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Sample records for nevoid basal-cell carcinoma

  1. Nevoid basal cell carcinoma syndrome

    MedlinePlus

    ... of this disorder is a type of skin cancer called basal cell carcinoma , that develops around the time of puberty. Other ... if: You or any family members have nevoid basal cell carcinoma syndrome, especially if you are planning to have ...

  2. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy. PMID:26971503

  3. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    PubMed Central

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic

  4. Two Cases of Nevoid Basal Cell CarcinomaSyndrome in One Family

    PubMed Central

    Ryu, Dong Jin; Kwon, Yeon Sook; Roh, Mi Ryung

    2008-01-01

    The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an autosomal dominant multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously. The diagnostic criteria for nevoid basal cell carcinoma syndrome include multiple basal cell carcinomas, palmoplantar pits, multiple odontogenic keratocysts, skeletal anomalies, positive family history, ectopic calcification and neurological anomalies. We report a brother and sister who were both diagnosed with nevoid basal cell carcinoma syndrome. PMID:27303197

  5. Multiple keratocystic odontogenic tumors in nevoid basal cell carcinoma syndrome

    PubMed Central

    Pereira, Treville; Tamgadge, Avinash; Sapdhare, Swati; Pujar, Ashwini

    2015-01-01

    Keratocystic odontogenic tumor (KCOT) is of particular interest because its recurrence rate is high and its behavior is aggressive. Nevoid basal cell carcinoma syndrome (NBCCS), which is also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and with a predisposition to neoplasms. These multiple KCOTs have warranted an aggressive treatment at the earliest because of the damage and possible complications. Recurrence of these lesions is a characteristic feature that has to be considered while explaining the prognosis to the patient. Here, we report a case of a 14-year-old boy with clinical features of basal cell nevus syndrome and multiple KCOTs. In addition to the other common features, congenitally missing third molars in all the four quadrants is a feature which has not been previously reported in association with NBCCS in Indian patients. PMID:26981489

  6. Gorlin's syndrome, or nevoid basal cell carcinoma syndrome.

    PubMed Central

    Fitzpatrick, P. J.; Thompson, G. A.

    1982-01-01

    Gorlin's syndrome is a condition inherited in an autosomal dominant fashion. It involves many organs, but principally affects the skin, skeleton, and endocrine and nervous systems. The most common features are multiple nervi and basal cell carcinomas of the skin, benign jaw cysts, dyskeratotic pits in the palms and soles, rib and vertebral abnormalities, brachymetacarpalism, and calcification of the falx cerebri. In 14 patients, 4 of whom belonged to one family, the age at the time of diagnosis ranged from 11 to 63 years. Ten patients are alive, but five are severely disfigured by carcinomas. Two patients died of complications resulting from uncontrolled tumours, and two died of other cancers. New skin tumours constantly develop; small ones can be excised, but large ones require extensive surgery with or without radiotherapy. Images FIG. 1 FIG. 2 FIG. 3 FIG. 4 FIG. 5 FIG. 6 FIG. 7 FIG. 9 FIG. 10 FIG. 11 PMID:7116263

  7. Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases

    PubMed Central

    Ali, Ibrahim K; Karjodkar, Freny R; Sansare, Kaustubh; Salve, Prashant; Goyal, Shikha

    2016-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder, characterized by skeletal anomalies and multiple keratocystic odontogenic tumors of the jaws. The skeletal anomalies of this syndrome are mandibular prognathism, bossing of frontal and parietal bones, high-arched palate, and bifid rib. We report three cases with NBCCS, emphasizing the clinical and radiographic findings, the importance of the early diagnosis of NBCCS, and a preventive multidisciplinary approach in the management of NBCCS.

  8. Nevoid basal cell carcinoma syndrome. Profile of genetic and environmental factors in oncogenesis

    SciTech Connect

    Howell, J.B.

    1984-07-01

    Nevoid basal cell carcinomas (NBCCs) are a prototype of a genetic form of basal cell carcinoma. These basal cell cancers, rather than being caused by genetic factors alone, are most likely the product of genetic and environmental factors. The NBCC syndrome provides a model for studying tumors induced by ionizing radiation and for viewing carcinogenesis as a multistage process explainable by a minimum of two steps. The interaction of genetic and environmental factors in producing tumors to which an individual is predisposed can be studied in patients with the NBCC syndrome and childhood medulloblastoma that was treated by radiation therapy. Individuals with the NBCC syndrome represent a special subgroup with a hereditary predisposition to basal cell carcinoma in whom ionizing radiation may supply the subsequent mutation necessary for tumor development. The genetically altered epidermis underlying the palm and sole pits found in patients with the syndrome represents basal cell carcinoma in situ from which basal cell carcinomas develop, albeit infrequently. The restrained biologic behavior of most of these tumors contrasts with the usual destructive behavior of the NBCCs of the head and neck in the same patient.

  9. Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of Korean Cases

    PubMed Central

    Jung, Eun-Joo; Shin, Hyokeun; Baek, Jin-A; Leem, Dae-Ho; Ko, Seung-O

    2014-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal genetic disease caused by a PTCH mutation. The disease is characterized by multiple basal cell carcinomas of the skin, multiple keratocystic odontogenic tumors (KCOTs) in the jaw, palmar and/or plantar pits, bifid ribs, ectopic calcification of the falx cerebri, and skeletal abnormalities. Early diagnosis is difficult in many cases because there may be a number of systemic symptoms. The purpose of this study is to report the case of a 12-year-old girl who was hospitalized with multiple KCOTs that occurred in the upper and lower jaws. Through characteristic clinical symptoms and radiologic findings, she was finally diagnosed as having NBCCS. This study also aims to organize the symptoms often observed in Korea using previously published case reports to provide useful information for the early diagnosis of NBCCS. PMID:27489849

  10. Review of Ocular Manifestations of Nevoid Basal Cell Carcinoma Syndrome: What an Ophthalmologist Needs to Know

    PubMed Central

    Chen, Judy J.; Sartori, Juliana; Aakalu, Vinay K.; Setabutr, Pete

    2015-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. Myriad ophthalmologic findings are associated with NBCCS, including periocular BCCs, hypertelorism, strabismus, myelinated nerve fibers, and disorders of the retina and retinal pigment epithelium. We performed a literature search in PubMed for articles on the ophthalmologic manifestations of Gorlin syndrome, published between 1984 and 2014. Of 33 papers, 31 were included. Although Gorlin syndrome is due to mutations in a single gene, it displays variable phenotypic expressivity. Therefore, familiarity with this disorder across clinical specialties is necessary to avoid misdiagnosis. The ophthalmologist should be included in the multidisciplinary team for the management of Gorlin syndrome in order to prevent visual loss and improve the quality of life of these patients. PMID:26692711

  11. Possible recurrence of keratocyst in nevoid basal cell carcinoma syndrome: A review of literature

    PubMed Central

    Tarakji, Bassel; Baroudi, Kusai; Hanouneh, Salah; Azzeghaiby, Saleh Naser; Nassani, Mohammad Zakaria

    2013-01-01

    This review will highlight some current areas of difficulty or controversy in diagnosis and treatment of nevoid basal cell carcinoma syndrome (NBCCS). The odontogenic keratocyst (OKC) has significant growth capacity and recurrence potential and is occasionally indicative of the NBCCS. The objective of this study is to clarify the causes of the recurrence of OKC in NBCCS. A literature search was conducted using Medline, accessed via the National Library of Medicine PubMed interface, searching for articles relating to the cause of recurrence of keratocyst in NBCCS written in English. This study has described the previous and the current outcomes of the treatment of OKC (recurrent cause). A protocol was then agreed to search for the possible causes of keratocyst recurrence in NBCCS. The general treatment of other manifestation of NBCCS has excluded from this study. Studies describing cohort, case series and miscellaneous clinical reports were retrieved and evaluated from 2010 to 2012. PMID:24966720

  12. Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome – case report

    PubMed Central

    Škodrić-Trifunović, Vesna; Stjepanović, Mihailo; Savić, Živorad; Ilić, Miroslav; Kavečan, Ivana; Jovanović Privrodski, Jadranka; Spasovski, Vesna; Stojiljković, Maja; Pavlović, Sonja

    2015-01-01

    Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical examination, radiological, and CT imaging, and mutation screening of PTCH1 gene were performed. Family members, as well as eleven healthy controls were included in the study. Both patients fulfilled the specific criteria for diagnosis of Gorlin syndrome. Molecular analysis of the first patient showed a novel frameshift mutation in exon 6 of PTCH1gene (c.903delT). Additionally, a somatic frameshift mutation in exon 21 (c.3524delT) along with germline mutation in exon 6 was detected in tumor-derived tissue sample of this patient. Analysis of the second patient, as well as two affected family members, revealed a novel nonsense germline mutation in exon 8 (c.1148 C>A). PMID:25727044

  13. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

    SciTech Connect

    Kimonis, V.E.; Yang, M.L.; Bale, S.J.

    1997-03-31

    Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to >1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include {open_quotes}coarse face{close_quotes} in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management. 48 refs., 3 figs., 5 tabs.

  14. PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study

    PubMed Central

    Soufir, N; Gerard, B; Portela, M; Brice, A; Liboutet, M; Saiag, P; Descamps, V; Kerob, D; Wolkenstein, P; Gorin, I; Lebbe, C; Dupin, N; Crickx, B; Basset-Seguin, N; Grandchamp, B

    2006-01-01

    The patched (PTCH) mutation rate in nevoid basal cell carcinoma syndrome (NBCCS) reported in various studies ranges from 40 to 80%. However, few studies have investigated the role of PTCH in clinical conditions suggesting an inherited predisposition to basal cell carcinoma (BCC), although it has been suggested that PTCH polymorphisms could predispose to multiple BCC (MBCC). In this study, we therefore performed an exhaustive analysis of PTCH (mutations detection and deletion analysis) in 17 patients with the full complement of criteria for NBCCS (14 sporadic and three familial cases), and in 48 patients suspected of having a genetic predisposition to BCC (MBCC and/or age at diagnosis ⩽40 years and/or familial BCC). Eleven new germline alterations of the PTCH gene were characterised in 12 out of 17 patients harbouring the full complement of criteria for the syndrome (70%). These were frameshift mutations in five patients, nonsense mutations in five patients, a small inframe deletion in one patient, and a large germline deletion in another patient. Only one missense mutation (G774R) was found, and this was in a patient affected with MBCC, but without any other NBCCS criterion. We therefore suggest that patients harbouring the full complement of NBCCS criteria should as a priority be screened for PTCH mutations by sequencing, followed by a deletion analysis if no mutation is detected. In other clinical situations that suggest genetic predisposition to BCC, germline mutations of PTCH are not common. PMID:16909134

  15. Cultured diploid fibroblasts from patients with the nevoid basal cell carcinoma syndrome are hypersensitive to killing by ionizing radiation

    SciTech Connect

    Chan, G.L.; Little, J.B.

    1983-04-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disease. About 20% of the gene carriers studied developed medulloblastoma before the age of 5 years. Clinical follow-up of these patients, treated with radiotherapy, revealed a predisposition to radiogenic basal cell carcinomas with an unusually short latent period of 6 months to 3 years. The authors have therefore cultured skin fibroblasts from 5 NBCCS patients and measured their radiosensitivity in terms of clonogenic survival. Our results showed that, compared with 6 normal controls, the NBCCS cells were hypersensitive to X-rays. The average D0 (the inverse of the slope of the survival curve) for the NBCCS cells was 98 rads, compared with 142 rads for the normal controls and 44 rads for an ataxia telangiectasia (AT) strain. The average D10 values (the dose required to reduce survival to 10%) were 258, 351, and 123 rads for the NBCCS, normal, and AT strains, respectively. Unscheduled DNA synthesis measurements showed that NBCCS cells were not defective in excision repair of X-ray-damaged DNA. Pulse labeling index measurements showed that NBCCS cells were abnormally inhibited in the initiation of DNA synthesis following X-irradiation. The mechanisms underlying the radiosensitivity of NBCCS differ in several respects from those of AT. NBCCS appears to be potentially a useful model for studying the cellular processes that are important in radiation carcinogenesis.

  16. Cultured diploid fibroblasts from patients with the nevoid basal cell carcinoma syndrome are hypersensitive to killing by ionizing radiation.

    PubMed Central

    Chan, G. L.; Little, J. B.

    1983-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disease. About 20% of the gene carriers studied developed medulloblastoma before the age of 5 years. Clinical follow-up of these patients, treated with radiotherapy, revealed a predisposition to radiogenic basal cell carcinomas with an unusually short latent period of 6 months to 3 years. The authors have therefore cultured skin fibroblasts from 5 NBCCS patients and measured their radiosensitivity in terms of clonogenic survival. Our results showed that, compared with 6 normal controls, the NBCCS cells were hypersensitive to X-rays. The average D0 (the inverse of the slope of the survival curve) for the NBCCS cells was 98 rads, compared with 142 rads for the normal controls and 44 rads for an ataxia telangiectasia (AT) strain. The average D10 values (the dose required to reduce survival to 10%) were 258, 351, and 123 rads for the NBCCS, normal, and AT strains, respectively. Unscheduled DNA synthesis measurements showed that NBCCS cells were not defective in excision repair of X-ray-damaged DNA. Pulse labeling index measurements showed that NBCCS cells were abnormally inhibited in the initiation of DNA synthesis following X-irradiation. The mechanisms underlying the radiosensitivity of NBCCS differ in several respects from those of AT. NBCCS appears to be potentially a useful model for studying the cellular processes that are important in radiation carcinogenesis. PMID:6837723

  17. Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome.

    PubMed

    Cobourne, Martyn T; Xavier, Guilherme M; Depew, Michael; Hagan, Louise; Sealby, Jane; Webster, Zoe; Sharpe, Paul T

    2009-07-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant or spontaneous disorder characterized by multiple cutaneous basal cell carcinomas, odontogenic keratocysts, skeletal anomalies and facial dysmorphology, including cleft lip and palate. Causative mutations for NBCCS occur in the PTCH1 gene on chromosome 9q22.3-q31, which encodes the principle receptor for the Hedgehog signalling pathway. We have investigated the molecular basis of craniofacial defects seen in NBCCS using a transgenic mouse model expressing Shh in basal epithelium under a Keratin-14 promoter. These mice have an absence of flat bones within the skull vault, hypertelorism, open-bite malocclusion, cleft palate and arrested tooth development. Significantly, increased Hedgehog signal transduction in these mice can influence cell fate within the craniofacial region. In medial edge epithelium of the palate, Shh activity prevents apoptosis and subsequent palatal shelf fusion. In contrast, high levels of Shh in odontogenic epithelium arrests tooth development at the bud stage, secondary to a lack of cell proliferation in this region. These findings illustrate the importance of appropriately regulated Hedgehog signalling during early craniofacial development and demonstrate that oro-facial clefting and hypodontia seen in NBCCS can occur as a direct consequence of increased Shh signal activity within embryonic epithelial tissues. PMID:19394325

  18. Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome.

    PubMed

    Ponti, Giovanni; Tomasi, Aldo; Pastorino, Lorenza; Ruini, Cristel; Guarneri, Carmelo; Mandel, Victor Desmond; Seidenari, Stefania; Pellacani, Giovanni

    2012-01-01

    Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS) with known PTCH1 germline mutation (C.1348-2A>G) who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age), while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences. PMID:23107377

  19. Microscopically controlled surgical excision combined with ultrapulse CO2 vaporization in the management of a patient with the nevoid basal cell carcinoma syndrome.

    PubMed

    Krunic, A L; Viehman, G E; Madani, S; Clark, R E

    1998-01-01

    Nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterized by multiple basal cell carcinomas, skeletal abnormalities and sometimes mental retardation. The large number of tumors, which are often disfiguring, presents extreme difficulties in the treatment of these patients. Microscopically controlled excision, compared to other modalities (radiation therapy, photodynamic therapy, intralesional interferon alpha-2b) offers the highest cure rate. However, because of the large size and involvement of wide areas of the skin, this approach is sometimes impractical. The ultrapulse CO2 laser with high energy and short pulses achieves char-free ablation of the tumors, bloodless surgical field, minimal nonspecific thermal damage, rapid healing and diminished postoperative pain. Also, a number of lesions can be removed in a single session. We present a 48-year-old man with a 6.5 x 4.5 cm large basal cell carcinoma involving the anterior abdomen and navel area. The central thick portion of the tumor was resected by microscopically controlled excision with 3 stages, and wide thinner peripheral crescentic plaque vaporized with ultrapulse CO2 laser. The laser settings were 300 mJ energy/pulse and 100 W average power, which corresponds to the fluence of 7.5 J/cm2. Computerized pattern generator (ultrascan handpiece) was adjusted to patterns of 3 (circle) and 1 (square) with sizes varying from 5 to 7, and density of 9 (60% overlapping). The tumor was vaporized with 6 passes, all the way to deep reticular dermis. A fifteen month-follow up disclosed no recurrent disease. Subsequent biopsies revealed only a scar with postinflammatory hyperpigmentation. Our experience indicates that combined treatment with microscopically controlled excision and ultrapulse CO2 laser ablation is a suitable modality for the large tumor plaques involving concave and convex areas of the skin respectively. Microscopically controlled excision of thicker, concave portions of basal

  20. Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report

    PubMed Central

    PONTI, GIOVANNI; POLLIO, ANNAMARIA; PASTORINO, LORENZA; PELLACANI, GIOVANNI; MAGNONI, CRISTINA; NASTI, SABINA; FORTUNA, GIULIO; TOMASI, ALDO; SCARRÀ, GIOVANNA BIANCHI; SEIDENARI, STEFANIA

    2012-01-01

    Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon 19 of the PTCH1 gene has only been reported in non-syndromic KCOTs. The present study reports for the first time a familial case (father and daughter) of NBCCS and KCOTs, carrying the same c.3277G>C (p.G1093R) germline mutation. This observation suggests that this missense mutation is involved in the pathogenesis of NBCCS as well as in a subset of non-syndromic KCOTs. The identification of a missense mutation may lead to an earlier diagnosis of NBCCS. PMID:22844361

  1. Basal Cell Carcinoma (BCC)

    MedlinePlus

    ... carcinomas: Infiltrating basal cell carcinomas can be more aggressive and locally destructive than other types of basal ... to treat them early and with slightly more aggressive techniques. Excision – The basal cell carcinoma is cut ...

  2. Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: A rare case illustrating gene-environment interaction

    SciTech Connect

    Korczak, J.F.; Goldstein, A.M.; Kase, R.G.

    1997-03-31

    We present an 8-year-old African-American boy with medulloblastoma and nevoid basal cell carcinoma syndrome (NBCCS) who exhibited the radiosensitive response of basal cell carcinoma (BCC) formation in the area irradiated for medulloblastoma. Such a response is well-documented in Caucasian NBCCS patients with medulloblastoma. The propositus was diagnosed with medulloblastoma at the age of 2 years and underwent surgery, chemotherapy, and craniospinal irradiation. At the age of 6 years, he was diagnosed with NBCCS following his presentation with a large odontogenic keratocyst of the mandible, pits of the palms and soles and numerous BCCs in the area of the back and neck that had been irradiated previously for medulloblastoma. Examination of other relatives showed that the propositus mother also had NBCCS but was more mildly affected; in particular, she had no BCCs. This case illustrates complex gene-environment interaction, in that increased skin pigmentation in African-Americans is presumably protective against ultraviolet, but not ionizing, radiation. This case and other similar cases in the literature show the importance of considering NBCCS in the differential diagnosis of any patient who presents with a medulloblastoma, especially before the age of 5 years, and of examining other close relatives for signs of NBCCS to determine the patient`s at-risk status. Finally, for individuals who are radiosensitive, protocols that utilize chemotherapy in lieu of radiotherapy should be considered. 27 refs., 4 figs.

  3. Heterozygous PTCH1 Mutations Impact the Bone Metabolism in Patients With Nevoid Basal Cell Carcinoma Syndrome Likely by Regulating SPARC Expression.

    PubMed

    Hong, Yingying; Zhang, Jianyun; Zhang, Heyu; Li, Xuefen; Qu, Jiafei; Zhai, Jiemei; Zhang, Lei; Chen, Feng; Li, Tiejun

    2016-07-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by bone and skin abnormalities and a predisposition to various tumors. Keratocystic odontogenic tumors (KCOTs), which are common tumors of the jaw that cause extensive damage to the jawbone, are usually accompanied with NBCCS. Germline PTCH1 mutations in NBCCS tumorigenesis have been frequently studied; however, little is known regarding the pathogenesis of bone abnormalities in this disease. This study sought to investigate the mechanism underlying heterozygous PTCH1 mutation-mediated abnormal bone metabolism in patients with NBCCS. Stromal cells were isolated from the fibrous capsules of patients with NBCCS-associated or non-syndromic keratocystic odontogenic tumors and non-syndromic tumor stromal cells without PTCH1 mutations served as controls. Germline PTCH1 heterozygous mutations were confirmed in all NBCCS samples and differential protein expression was identified using tandem mass tag-labeled proteomics analysis. Our findings revealed that osteonectin/SPARC expression was significantly downregulated in syndromic stromal cells compared with non-syndromic stromal cells. SPARC expression was even lower in stromal cells carrying PTCH1 protein truncation mutations. PTCH1 siRNA transfection demonstrated that SPARC downregulation correlates with decreased PTCH1 expression. Furthermore, exogenous SPARC promoted osteogenic differentiation of syndromic stromal cells with enhanced development of calcium nodules. In addition, bone mineral density tests showed that patients with NBCCS exhibit weak bone mass compared with sex- and age-matched controls. This study indicates that germline PTCH1 heterozygous mutations play a major role in bone metabolism in patients with NBCCS, in particular in those with PTCH1 protein truncation mutations. SPARC may represent an important downstream modulator of PTCH1 mediation of bone metabolism. Thus, bone mineral density monitoring is critical

  4. Basal Cell Carcinoma

    PubMed Central

    Lanoue, Julien

    2016-01-01

    Basal cell carcinoma is the most commonly occurring cancer in the world and overall incidence is still on the rise. While typically a slow-growing tumor for which metastases is rare, basal cell carcinoma can be locally destructive and disfiguring. Given the vast prevalence of this disease, there is a significant overall burden on patient well-being and quality of life. The current mainstay of basal cell carcinoma treatment involves surgical modalities, such as electrodessication and curettage, excision, cryosurgery, and Mohs micrographic surgery. Such methods are typically reserved for localized basal cell carcinoma and offer high five-year cure rates, but come with the risk of functional impairment, disfigurement, and scarring. Here, the authors review the evidence and indications for nonsurgical treatment modalities in cases where surgery is impractical, contraindicated, or simply not desired by the patient. PMID:27386043

  5. Nevoid Basal Cell Carcinoma Syndrome

    MedlinePlus

    ... ask your doctor or visit these websites: National Society of Genetic Counselors www.nsgc.org National Cancer ... timely, comprehensive, oncologist-approved information from the American Society of Clinical Oncology (ASCO), with support from the ...

  6. Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (gorlin) syndrome and fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3

    SciTech Connect

    Farndon, P.A.; Hardy, C.; Kilpatrick, M.W.

    1994-09-15

    Four disease genes (NBCCS, ESS1, XPAC, FACC) map to 9q22.3-q31. A fine map of this region was produced by linkage and haplotype analysis using 12 DNA markers. The gene for nevoid basal cell carcinoma syndrome (NBCCS, Gorlin) has an important role in congenital malformations and carcinogenesis. Phase-known recombinants in a study of 133 meioses place NBCCS between (D9S12/D9S151) and D9S176. Haplotype analysis in a two-generation family suggests that NBCCS lies in a smaller interval of 2.6 cM centromeric to D9S287. These flanking markers will be useful clinically for gene tracking. Recombinants also map FACC (Fanconi anemia, group C) to the same region, between (D9S12/D9S151) and D9S287. The recombination rate between (D9S12/D9S151) and D9S53 in males is 8.3% and 13.2% in females, giving a sex-specific male:female ratio of 1:1.6 and a sex-averaged map distance of 10.4 cM. No double recombinants were detected, in agreement with the apparently complete level of interference predicted from the male chiasmata map. 19 refs., 2 figs., 1 tab.

  7. Basal cell carcinoma – diagnosis

    PubMed Central

    Bowszyc-Dmochowska, Monika; Strzelecka-Węklar, Daria; Dańczak-Pazdrowska, Aleksandra; Adamski, Zygmunt

    2013-01-01

    Basal cell carcinoma is the most common skin cancer in the Caucasian population. The cancer arises in sun exposed areas of the skin. The incidence of morbidity is high and it is still growing. The metastatic rate is low, but the enlarging tumor may cause severe tissue disfigurement and a poor cosmetic outcome. The diagnosis is usually clinical but there are many subtypes of this carcinoma and correct diagnosis is the clue to appropriate treatment of the lesion. The main problem in basal cell carcinoma management is the high recurrence rate. PMID:24592119

  8. Multiple pigmented basal cell carcinomas.

    PubMed

    Shoji, T; Lee, J; Hong, S H; Oh, C H; Kim, W K; Bhawan, J

    1998-04-01

    Basal cell carcinoma is the most common of all skin cancers and the most prevalent one among Caucasians. Rarely, these tumors are seen in other races. We report a 77-year-old Korean woman who presented with multiple darkly pigmented enlarging nodules on her scalp, face, trunk, and extremities. The patient had first noted a 6-mm pigmented lesion on her left eyebrow 10 years previously. Since then, other lesions had appeared in many locations on her body. She had been otherwise healthy and without a history of exposure to arsenic or radiation. There was no family history of skin cancer, xeroderma pigmentosum, or basal cell nevus syndrome. On physical examination, multiple darkly pigmented dome-shaped papules and nodules were present on her scalp, face, right forearm, lower abdomen, and inguinal areas. They ranged in size from 0.5 mm to 2 cm. The larger ones showed central ulceration. Multiple biopsy specimens from different sites showed pigmented basal cell carcinomas. Clinically, there was no evidence of nevus sebaceus, xeroderma pigmentosum, basal cell nevus syndrome, or immunodeficiency. Clinical workup including chest radiography, abdominal ultrasound, bone scan, and brain computerized axial tomography scan did not demonstrate primary or secondary tumors. The results of serologic and hematologic tests were also within normal limits. This is an unusual case report of multiple pigmented basal cell carcinomas in an Asian woman without any predisposing risk factors. PMID:9557792

  9. "Basal Cell Blanche": A Diagnostic Maneuver to Increase Early Detection of Basal Cell Carcinomas.

    PubMed

    Quach, Olivia Leigh; Barry, Megan; Roberts Cruse, Allison; Wilson, Barbara B

    2016-01-01

    Basal cell carcinomas represent one of the most common skin cancers and often present initially in the primary care setting. Subtle basal cell carcinomas may be difficult to detect, and early detection of these carcinomas remains important in limiting patient morbidity. In this article, we present a simple diagnostic maneuver, "basal cell blanche," to increase early detection of basal cell carcinomas. PMID:27170799

  10. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

    PubMed Central

    Bilir, Yeliz; Gokce, Erkan; Ozturk, Banu; Deresoy, Faik Alev; Yuksekkaya, Ruken; Yaman, Emel

    2014-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome. PMID:25506011

  11. Basal Cell Carcinoma. Part 1: Basal Cell Carcinoma Has Come of Age.

    PubMed

    Deng, Min; Marsch, Amanda F; Petronic-Rosic, Vesna

    2015-01-01

    Almost 2 centuries after its recognition, basal cell carcinoma (BCC) remains the most common cancer worldwide, with a 30% overall lifetime risk in the United States and an incidence that continues to increase annually. The increasing incidence of BCC is multifactorial and likely correlates to multiple risk factors, including exposure to both ionizing and UV radiation. Despite its relatively indolent growth, what was once referred to as a rodent ulcer or basal cell epithelioma is now identified as a full-fledged malignancy. The authors describe the societal burden of this disease and characterize its malignant potential, emphasizing associated clinical and histopathologic prognostic features. PMID:26380507

  12. Radiation-induced basal cell carcinoma

    PubMed Central

    Zargari, Omid

    2015-01-01

    Background: The treatment of tinea capitis using radiotherapy was introduced at the beginning of the twentieth century. A variety of cancers including basal cell carcinoma (BCC) are seen years after this treatment. Objective: We sought to determine the clinical characteristics of BCCs among irradiated patients. Methods: The clinical records of all patients with BCC in a clinic in north of Iran were reviewed. Results: Of the 58 cases of BCC, 29 had positive history for radiotherapy in their childhood. Multiple BCCs were seen in 79.3% and 10.3% of patients with history and without history of radiotherapy, respectively. Conclusions: X-ray radiation is still a major etiologic factor in developing BCC in northern Iran. Patients with positive history for radiotherapy have higher rate of recurrence. PMID:26114066

  13. Giant basal cell carcinoma of the forehead: a case report.

    PubMed

    Rudić, Milan; Kranjcec, Zoran; Lisica-Sikić, Natasa; Kovacić, Marijan

    2012-03-01

    Giant basal cell carcinoma (GBCC) is defined as a tumor 5cm or greater in diameter. They present less than 1% of all basal cell carcinomas. We present a case of an 85-year-old male patient with a giant ulcerating tumor of the left forehead (measuring 7x6 cm). Under local anesthesia tumor was surgically excised. No involvement of the underlying periostal or bone structure was noted. Pathohystological exam revealed the giant basal cell carcinoma, with free surgical margins. Giant basal cell carcinomas are rare tumors and are usually result of a long duration and patient neglect. In comparison to the ordinary basal cell carcinoma these tumors have a higher metastatic potential. Surgical resection with negative surgical margin is the best possible treatment option. PMID:22816239

  14. New basal cell carcinoma susceptibility loci

    PubMed Central

    Stacey, Simon N.; Helgason, Hannes; Gudjonsson, Sigurjon A.; Thorleifsson, Gudmar; Zink, Florian; Sigurdsson, Asgeir; Kehr, Birte; Gudmundsson, Julius; Sulem, Patrick; Sigurgeirsson, Bardur; Benediktsdottir, Kristrun R.; Thorisdottir, Kristin; Ragnarsson, Rafn; Fuentelsaz, Victoria; Corredera, Cristina; Gilaberte, Yolanda; Grasa, Matilde; Planelles, Dolores; Sanmartin, Onofre; Rudnai, Peter; Gurzau, Eugene; Koppova, Kvetoslava; Nexø, Bjørn A.; Tjønneland, Anne; Overvad, Kim; Jonasson, Jon G.; Tryggvadottir, Laufey; Johannsdottir, Hrefna; Kristinsdottir, Anna M.; Stefansson, Hreinn; Masson, Gisli; Magnusson, Olafur T.; Halldorsson, Bjarni V.; Kong, Augustine; Rafnar, Thorunn; Thorsteinsdottir, Unnur; Vogel, Ulla; Kumar, Rajiv; Nagore, Eduardo; Mayordomo, José I.; Gudbjartsson, Daniel F.; Olafsson, Jon H.; Stefansson, Kari

    2015-01-01

    In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 × 10−12), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 × 10−9), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 × 10−12) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 × 10−16). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained. PMID:25855136

  15. The effective treatment of basal cell carcinoma.

    PubMed

    Skelton, Lucy Anne

    Basal cell carcinoma (BCC) accounts for 75% of all skin cancers and its incidence is rising by between 3-8% each year (Szeimies and Karrer, 2006). As a result, the development of new therapeutic strategies and treatment methods for the removal of BCC is crucial in combating what is a growing problem. Surgical techniques, such as Mohs micrographic surgery, cryotherapy/cryosurgery, curettage and carbon dioxide laser therapy, as well as non-surgical techniques, such as radiotherapy, are recognized as potential options. The aim of this article is to critically review some of the current literature in order to substantiate the efficacy of destructive and non-surgical techniques as reliable alternatives to surgery for the management/removal of BCCs. The success rate, cosmetic outcome, pain and discomfort, recurrence rates, and the cost associated with each method are explored and discussed. Results of the review indicate that no one treatment is completely superior. According to the research, simple excision and Mohs micrographic surgery provide the lowest recurrence rates. However, in relation to success rates, patients tolerance of the treatment and cosmetic outcomes, and depending on the type of BCC involved, other treatment methods do offer reliable alternatives. PMID:19329898

  16. Metastatic basal cell carcinoma caused by carcinoma misdiagnosed as acne - case report and literature review.

    PubMed

    Aydin, Dogu; Hölmich, Lisbet Rosenkrantz; Jakobsen, Linda P

    2016-06-01

    Basal cell carcinoma can be misdiagnosed as acne; thus, carcinoma should be considered in treatment-resistant acne. Although rare, neglected basal cell carcinoma increases the risk of metastasis. PMID:27398205

  17. The relation between dermoscopy and histopathology of basal cell carcinoma*

    PubMed Central

    Emiroglu, Nazan; Cengiz, Fatma Pelin; Kemeriz, Funda

    2015-01-01

    BACKGROUND: Basal cell carcinoma is the most frequent cancer in fair-skinned populations and dermoscopy is an important, non-invasive technique that aids in the diagnosis of Basal cell carcinoma. OBJECTIVES: The aim of this study was to evaluate the relationship between histopathological subtypes and dermoscopic features of Basal cell carcinoma. METHODS: This study included 98 patients with clinically and histopathologically confirmed Basal cell carcinomas. The dermoscopic features of the lesions from each patient were analyzed before the histopathological findings were evaluated. RESULTS: Dermoscopic structures were observed in all 98 patients and irregular vascularity was identified in 78 patients (79.6%). The most common vascular pattern was the presence of arborizing vessels (42 patients, 42.9%) followed by arborizing microvessels (21 patients, 21.4%) and short fine telangiectasias (SFTs; 15 patients, 15.3%). White streaks (38 patients, 38.8%), translucency (31 patients, 31.6%), a milky-pink to red background (42 patients, 42.9%), and erosion/ulceration (29 patients, 29.6%) were also observed. Pigmented islands were seen as blue-gray globules (7 patients, 7.1%) and blue-gray ovoid nests (42 patients, 42.9%). The pigment distribution pattern was maple leaf-like areas in 9 patients (9.2 %) and spoke wheel-like areas in 6 patients (6.1%). CONCLUSIONS: Basal cell carcinomas show a wide spectrum of dermoscopic features. Arborizing vessels were the most common dermoscopic findings in Basal cell carcinomas, while superficial Basal cell carcinomas displayed mainly milky-pink to red areas, and arborizing microvessels. The most common dermoscopic features of pigmented types were islands of pigment (blue-gray globules, blue-gray ovoid nests). In conclusion, dermoscopy can be used as a valuable tool for the diagnosis of Basal cell carcinomas and prediction of their histopathological subtypes. PMID:26131865

  18. Nuclear morphometry and chromatin textural characteristics of basal cell carcinoma*

    PubMed Central

    Mendaçolli, Paola Jung; Brianezi, Gabrielli; Schmitt, Juliano Vilaverde; Marques, Mariângela Esther Alencar; Miot, Hélio Amante

    2015-01-01

    Histological subtypes of basal cell carcinoma have biological, evolutionary and distinct prognostic behavior. The analysis of characteristics of the nucleus can provide data on their cellular physiology and behavior. The authors of this study evaluated nuclear morphological parameters and textural patterns of chromatin from different subtypes of basal cell carcinoma: nodular (n=37), superficial (n=28) and sclerodermiform (n=28). The parameters were compared between neoplasms' subtypes and with unaffected adjacent basal epithelium. Nuclear area and diameter of sclerodermiform neoplasms were superior to the other subtypes. Chromatin's color intensity and fractal dimension were less intense in superficial subtypes. Nuclear roundness and chromatin's entropy presented lower values in tumors than in normal epithelium. There was significant correlation between morphological and textural variables of normal skin and tumors. Morphometric elements and textural chromatin's homogeneity of basal cell carcinomas may be related to evolutionary, biological and behavior particularities related to each histotype. PMID:26734870

  19. New therapeutic options for actinic keratosis and basal cell carcinoma.

    PubMed

    Sligh, James E

    2014-06-01

    Actinic keratosis (AK) is a common premalignant skin lesion that is frequently treated by cryosurgery. Basal cell carcinoma is the most common malignancy of man, and early-stage lesions are usually cured via surgery. Advanced basal cell carcinoma may require more extensive surgery resulting in deformity, and many advanced lesions cannot be treated surgically. Several recent developments have improved therapeutic options for both conditions. Cryosurgery is still a mainstay of treatment for AK, but the introduction of effective topical agents, imiquimod cream and ingenol mebutate, has provided alternatives to cryosurgery. For advanced basal cell carcinoma, the small-molecule inhibitor vismodegib has proven to be an effective therapy for lesions that are not amenable to surgery and has demonstrated ability to achieve dramatic improvement in advanced, potentially disfiguring cancer. PMID:25268601

  20. Basal cell carcinomas in elderly patients treated by cryotherapy.

    PubMed

    Chiriac, Anca; Mihaila, Doina; Foia, Liliana; Solovan, Caius

    2013-01-01

    Basal cell carcinoma is a malignant skin tumor with high incidence in our country, especially in rural areas, on sun-exposed skin (particularly on the face) in elderly patients. We present three cases of basal cell carcinoma with good results with cryotherapy. This report aims to outline and to prove that in some difficult situations, a simple, inexpensive, easy-to-perform procedure with no contraindications and with minimal side effects (erythema, mild pain) can be applied and resolve such cases. PMID:23569366

  1. Basal cell carcinomas in elderly patients treated by cryotherapy

    PubMed Central

    Chiriac, Anca; Mihaila, Doina; Foia, Liliana; Solovan, Caius

    2013-01-01

    Basal cell carcinoma is a malignant skin tumor with high incidence in our country, especially in rural areas, on sun-exposed skin (particularly on the face) in elderly patients. We present three cases of basal cell carcinoma with good results with cryotherapy. This report aims to outline and to prove that in some difficult situations, a simple, inexpensive, easy-to-perform procedure with no contraindications and with minimal side effects (erythema, mild pain) can be applied and resolve such cases. PMID:23569366

  2. Basal Cell Carcinoma Developing from Trichoepithelioma: Review of Three Cases

    PubMed Central

    Satyanarayana, M. Ananta; Aryasomayajula, Sirish; Krishna, B.A. Rama

    2016-01-01

    Trichoepitheliomas (TE) are benign tumours but occasionally can undergo transformation to malignant neoplasms more commonly as Basal Cell Carcinoma (BCC). The correct diagnosis between these tumours is very important because basal cell carcinoma is locally aggressive neoplasm and requires total surgical excision with wide healthy margins while trichoepithelioma needs simple excision. We describe three patients who developed basal cell carcinoma with facial trichoepitheliomas. The only clinical feature that distinguished the carcinomas from the trichoepitheliomas was their larger size, in all three patients, one patient with recurrent, hyper pigmented swelling with surface ulceration and in another patient there are multiple trichoepitheliomas, and other family members are also affected. The history, clinical features and histopathological findings were suggestive of the evolution of basal cell carcinoma directly from trichoepithelioma in our first two cases, but in the third case TE and BCC were separate lesions on face and we are uncertain about whether the BCC developed independently or by transformation from a trichoepithelioma. Based on our clinicopathological observations in the three patients and reports in the recent literature, BCC with follicular differentiation and trichoepithelioma are considered to be highly related. PMID:27134936

  3. Basal cell carcinomas in a young woman with Steinert's disease.

    PubMed

    Miraglia, E; Cantisani, C; Giustini, S; Ambrifi, M; Soda, G; Calvieri, S

    2014-08-01

    Steinert's disease or Myotonic dystrophy type I (DM1) is an autosomal dominant disease characterized by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and electrocardiographic alterations.Several tumors have been associated with DM1 such as pilomatricoma, thymomas and insulinomas. Herein, we describe the unusual onset of multiple basal cell carcinomas in a young woman with DM1. PMID:25148278

  4. Basal Cell Carcinoma of the Penis: A Case Report and Review of the Literature

    PubMed Central

    Roewe, R. J.; Uhlman, Matthew A.; Bockholt, Nathan A.

    2014-01-01

    Basal cell carcinoma of the penis is an extremely rare entity, accounting for less than 0.03% of all basal cell carcinomas. Fortunately, wide local excision of such lesions is generally curative. Fewer than 25 cases have been reported in the literature describing penile basal cell carcinoma. Here we report a case of penile basal cell carcinoma cured with wide local excision. PMID:25298901

  5. Investigational agents in metastatic basal cell carcinoma: focus on vismodegib

    PubMed Central

    Batty, Nicolas; Kossoff, Ellen; Dy, Grace K

    2012-01-01

    Vismodegib (GDC-0449, 2-chloro-N-(4-chloro-3-(pyridin-2-yl)phenyl)-4-(methylsulfonyl)benzamide, Erivedge™) is a novel first-in-human, first-in class, orally bio-available Hedgehog pathway signaling inhibitor of the G-protein coupled receptor-like protein smoothened (SMO) which was approved in the United States on January 2012. This signaling pathway is involved in the carcinogenesis of several types of tumor, as exemplified by basal cell carcinoma. This review focuses on the role of the Hedgehog pathway in the pathogenesis of basal cell carcinoma, the pharmacology and the clinical activity of vismodegib, as well as a brief summary of investigational agents in development targeting this pathway.

  6. Autofluorescence imaging of basal cell carcinoma by smartphone RGB camera

    NASA Astrophysics Data System (ADS)

    Lihachev, Alexey; Derjabo, Alexander; Ferulova, Inesa; Lange, Marta; Lihacova, Ilze; Spigulis, Janis

    2015-12-01

    The feasibility of smartphones for in vivo skin autofluorescence imaging has been investigated. Filtered autofluorescence images from the same tissue area were periodically captured by a smartphone RGB camera with subsequent detection of fluorescence intensity decreasing at each image pixel for further imaging the planar distribution of those values. The proposed methodology was tested clinically with 13 basal cell carcinoma and 1 atypical nevus. Several clinical cases and potential future applications of the smartphone-based technique are discussed.

  7. Basal Cell Carcinoma in Gorlin’s Patients: a Matter of Fibroblasts-Led Protumoral Microenvironment?

    PubMed Central

    Gache, Yannick; Brellier, Florence; Rouanet, Sophie; Al-Qaraghuli, Sahar; Goncalves-Maia, Maria; Burty-Valin, Elodie; Barnay, Stéphanie; Scarzello, Sabine; Ruat, Martial; Sevenet, Nicolas; Avril, Marie-Françoise; Magnaldo, Thierry

    2015-01-01

    Basal cell carcinoma (BCC) is the commonest tumor in human. About 70% sporadic BCCs bear somatic mutations in the PATCHED1 tumor suppressor gene which encodes the receptor for the Sonic Hedgehog morphogen (SHH). PATCHED1 germinal mutations are associated with the dominant Nevoid Basal Cell Carcinoma Syndrome (NBCCS), a major hallmark of which is a high susceptibility to BCCs. Although the vast majority of sporadic BCCs arises exclusively in sun exposed skin areas, 40 to 50% BCCs from NBCCS patients develop in non photo-exposed skin. Since overwhelming evidences indicate that microenvironment may both be modified by- and influence the- epithelial tumor, we hypothesized that NBCCS fibroblasts could contribute to BCCs in NBCCS patients, notably those developing in non photo-exposed skin areas. The functional impact of NBCCS fibroblasts was then assessed in organotypic skin cultures with control keratinocytes. Onset of epidermal differentiation was delayed in the presence of primary NBCCS fibroblasts. Unexpectedly, keratinocyte proliferation was severely reduced and showed high levels of nuclear P53 in both organotypic skin cultures and in fibroblast-led conditioning experiments. However, in spite of increased levels of senescence associated β-galactosidase activity in keratinocytes cultured in the presence of medium conditioned by NBCCS fibroblasts, we failed to observe activation of P16 and P21 and then of bona fide features of senescence. Constitutive extinction of P53 in WT keratinocytes resulted in an invasive phenotype in the presence of NBCCS fibroblasts. Finally, we found that expression of SHH was limited to fibroblasts but was dependent on the presence of keratinocytes. Inhibition of SHH binding resulted in improved epidermal morphogenesis. Altogether, these data suggest that the repertoire of diffusible factors (including SHH) expressed by primary NBCCS fibroblasts generate a stress affecting keratinocytes behavior and epidermal homeostasis. Our findings

  8. Neglected basal cell carcinoma in a schizophrenic patient.

    PubMed

    Shah, Hassan A; Lee, Hui Bae Harold; Nunery, William R

    2008-01-01

    Obtaining informed consent from patients with mental disorders can be a complicated and involved process, potentially resulting in decisions contrary to the advice of physicians. We present a schizophrenic patient with an invasive basal cell carcinoma involving the periocular structures and the right orbit. Exenteration was recommended with en bloc resection of the tumor. The ethical and legal committees decided against surgical intervention. Rather, the patient was admitted for medical treatment of his mental illness. A multidisciplinary approach with consultation of a psychiatrist, social worker, and ethical and legal committees is often necessary in the care of patients with mental illness. PMID:19033856

  9. A Case of Axillary Adenoid Basal Cell Carcinoma

    PubMed Central

    Kim, Soo Ho; Ko, Woo Tae; Lee, Jong Im

    2008-01-01

    Basal cell carcinoma (BCC) is the most common skin cancer with a steadily increasing incidence. Ultraviolet radiation is considered the single most important risk factor for BCC, because the tumor occurs most frequently in sun-exposed areas of the body, with approximately four of five BCCs occurring on the face. BCC occurs infrequently in non-sun-exposed skin. The axilla is one of the most sun-protected areas of the body, and BCC arising at this site is very rare. We herein report a case of adenoid BCC which arose from the axilla in a 33-year-old woman. PMID:27303153

  10. Dermoscopic features of small size pigmented basal cell carcinomas.

    PubMed

    Takahashi, Asuka; Hara, Hiroyuki; Aikawa, Miwa; Ochiai, Toyoko

    2016-05-01

    Dermoscopic images of histologically proven pigmented basal cell carcinomas (BCC) were retrospectively assessed to compare the dermoscopic features of BCC of 3 mm or less in diameter (n = 6) with BCC of 4-6 mm in diameter (n = 11). All lesions lacked the presence of a pigment network. BCC with a diameter of 3 mm or less had fewer positive dermoscopic features compared with the 4-6 mm in diameter BCC. Multiple blue-gray globules and large blue-gray ovoid nests were frequently present. Dermoscopy is a useful tool for early diagnosis of pigmented BCC, even when they are small. PMID:26458728

  11. Photodynamic therapy in the treatment of basal cell carcinoma

    PubMed Central

    Matei, C; Tampa, M; Poteca, T; Panea-Paunica, G; Georgescu, SR; Ion, RM; Popescu, SM; Giurcaneanu, C

    2013-01-01

    Photodynamic therapy (PDT) is a medical procedure based on the activation of the molecules of various exogenous or endogenous chemical substances called photosensitizers by a light source emitting radiation of an adequate wavelength, usually situated in the visible spectrum; photosensitizers are chemical compounds bearing the capacity to selectively concentrate in the neoplastic cells. The energy captured by the molecules of these substances pervaded in the tumor cells is subsequently discharged in the surrounding tissue, triggering certain photodynamic reactions that result in the destruction of the tumor. The procedure is applicable in numerous medical fields. Skin basal cell carcinoma (BCC), the most frequent type of cancer of the human species, is a cutaneous tumor that responds very well to this innovative treatment method. By reviewing numerous recent studies in the field, this article aims to present the role and the indications of photodynamic therapy in the management of basal cell carcinoma, as well as the most important results achieved so far by this therapy in the field of dermato-oncology. PMID:23599819

  12. Basal cell carcinoma, squamous cell carcinoma and melanoma of the head and face.

    PubMed

    Feller, L; Khammissa, R A G; Kramer, B; Altini, M; Lemmer, J

    2016-01-01

    Ultraviolet light (UV) is an important risk factor for cutaneous basal cell carcinoma, cutaneous squamous cell carcinoma and cutaneous melanoma of the skin. These cancers most commonly affect persons with fair skin and blue eyes who sunburn rather than suntan. However, each of these cancers appears to be associated with a different pattern of UV exposure and to be mediated by different intracellular molecular pathways.Some melanocortin 1 receptor (MC1R) gene variants play a direct role in the pathogenesis of cutaneous basal cell carcinoma, cutaneous squamous cell carcinoma and cutaneous melanoma apart from their role in determining a cancer-prone pigmentory phenotype (fair skin, red hair, blue eyes) through their interactions with other genes regulating immuno-inflammatory responses, DNA repair or apoptosis.In this short review we focus on the aetiological role of UV in cutaneous basal cell carcinoma, cutaneous squamous cell carcinoma and cutaneous melanoma of the skin, and on some associated biopathological events. PMID:26850723

  13. Novel Hedgehog pathway targets against basal cell carcinoma

    SciTech Connect

    Tang, Jean Y. So, P.-L.; Epstein, Ervin H.

    2007-11-01

    The Hedgehog signaling pathway plays a key role in directing growth and patterning during embryonic development and is required in vertebrates for the normal development of many structures, including the neural tube, axial skeleton, skin, and hair. Aberrant activation of the Hedgehog (Hh) pathway in adult tissue is associated with the development of basal cell carcinoma (BCC), medulloblastoma, and a subset of pancreatic, gastrointestinal, and other cancers. This review will provide an overview of what is known about the mechanisms by which activation of Hedgehog signaling leads to the development of BCCs and will review two recent papers suggesting that agents that modulate sterol levels might influence the Hh pathway. Thus, sterols may be a new therapeutic target for the treatment of BCCs, and readily available agents such as statins (HMG-CoA reductase inhibitors) or vitamin D might be helpful in reducing BCC incidence.

  14. Treatment of Basal Cell Carcinoma with Curettage Followed by Imiquimod 3.75% Cream

    PubMed Central

    Patel, Rita V.; Birge, Miriam B.

    2011-01-01

    Basal cell carcinoma is the most common form of nonmelanoma skin cancer in the United States. Treatment modalities include both surgical, medical, or combination therapy. In the following case, the authors report the successful treatment of a basal cell carcinoma on the nose with curettage followed by topical imiquimod 3.75% cream. PMID:21607193

  15. New common variants affecting susceptibility to basal cell carcinoma.

    PubMed

    Stacey, Simon N; Sulem, Patrick; Masson, Gisli; Gudjonsson, Sigurjon A; Thorleifsson, Gudmar; Jakobsdottir, Margret; Sigurdsson, Asgeir; Gudbjartsson, Daniel F; Sigurgeirsson, Bardur; Benediktsdottir, Kristrun R; Thorisdottir, Kristin; Ragnarsson, Rafn; Scherer, Dominique; Hemminki, Kari; Rudnai, Peter; Gurzau, Eugene; Koppova, Kvetoslava; Botella-Estrada, Rafael; Soriano, Virtudes; Juberias, Pablo; Saez, Berta; Gilaberte, Yolanda; Fuentelsaz, Victoria; Corredera, Cristina; Grasa, Matilde; Höiom, Veronica; Lindblom, Annika; Bonenkamp, Johannes J; van Rossum, Michelle M; Aben, Katja K H; de Vries, Esther; Santinami, Mario; Di Mauro, Maria G; Maurichi, Andrea; Wendt, Judith; Hochleitner, Pia; Pehamberger, Hubert; Gudmundsson, Julius; Magnusdottir, Droplaug N; Gretarsdottir, Solveig; Holm, Hilma; Steinthorsdottir, Valgerdur; Frigge, Michael L; Blondal, Thorarinn; Saemundsdottir, Jona; Bjarnason, Hjördis; Kristjansson, Kristleifur; Bjornsdottir, Gyda; Okamoto, Ichiro; Rivoltini, Licia; Rodolfo, Monica; Kiemeney, Lambertus A; Hansson, Johan; Nagore, Eduardo; Mayordomo, José I; Kumar, Rajiv; Karagas, Margaret R; Nelson, Heather H; Gulcher, Jeffrey R; Rafnar, Thorunn; Thorsteinsdottir, Unnur; Olafsson, Jon H; Kong, Augustine; Stefansson, Kari

    2009-08-01

    In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma. PMID:19578363

  16. Clinical outcome of surgical treatment for periorbital basal cell carcinoma.

    PubMed

    Kakudo, Natsuko; Ogawa, Yutaka; Suzuki, Kenji; Kushida, Satoshi; Kusumoto, Kenji

    2009-11-01

    Basal cell carcinoma (BCC) has a predilection for the periorbital region, which is a special, prominent, cosmetic, functional area to protect the eyeball. For squamous cell carcinoma and melanoma, extensive resection with reconstruction is performed. In contrast, for BCC, resection is often confined to a small to medium-sized area, necessitating higher-quality reconstructive surgery. We analyze the surgical outcomes of treatment for periorbital BCC, and evaluate reconstruction method after resection. Forty-nine patients with periorbital BCC had surgery in our hospital over 20 years. Age, gender of the patients, and size, localization, and histology of the tumor, and surgical procedures, and their early and late complications were analyzed retrospectively. BCC was most frequently occurred in the lower lid (55%), followed by inner canthus (19%), upper lid (17%), and outer canthus (9%). The histologic classifications were solid (80%), morphea (7%), mix (7%), superficial (2%), keratotic (2%), and adenoid (2%). Recurrence of the tumor was observed in 2 advanced cases in patients treated with resection of the tumor including surrounding tissue 5 mm from the margin. A rotation advancement cheek flap procedure was most frequently applied. Horizontal shift of the skin was most effective to prevent postoperative lagophthalmos. BCC occurred most frequently in the lower lid within the periorbital area. Rotation advancement of cheek flap with horizontal shift of the skin is most effective procedure in both appearance and function of the eyelid. PMID:19801921

  17. Microscopic fluorescence spectral analysis of basal cell carcinomas

    NASA Astrophysics Data System (ADS)

    He, Qingli; Lui, Harvey; Zloty, David; Cowan, Bryce; Warshawski, Larry; McLean, David I.; Zeng, Haishan

    2007-05-01

    Background and Objectives. Laser-induced autofluorescence (LIAF) is a promising tool for cancer diagnosis. This method is based on the differences in autofluorescence spectra between normal and cancerous tissues, but the underlined mechanisms are not well understood. The objective of this research is to study the microscopic origins and intrinsic fluorescence properties of basal cell carcinoma (BCC) for better understanding of the mechanism of in vivo fluorescence detection and margin delineation of BCCs on skin patients. A home-made micro- spectrophotometer (MSP) system was used to image the fluorophore distribution and to measure the fluorescence spectra of various microscopic structures and regions on frozen tissue sections. Materials and Methods. BCC tissue samples were obtained from 14 patients undergoing surgical resections. After surgical removal, each tissue sample was immediately embedded in OCT medium and snap-frozen in liquid nitrogen. The frozen tissue block was then cut into 16-μm thickness sections using a cryostat microtome and placed on microscopic glass slides. The sections for fluorescence study were kept unstained and unfixed, and then analyzed by the MSP system. The adjacent tissue sections were H&E stained for histopathological examination and also served to help identify various microstructures on the adjacent unstained sections. The MSP system has all the functions of a conventional microscope, plus the ability of performing spectral analysis on selected micro-areas of a microscopic sample. For tissue fluorescence analysis, 442nm He-Cd laser light is used to illuminate and excite the unstained tissue sections. A 473-nm long pass filter was inserted behind the microscope objective to block the transmitted laser light while passing longer wavelength fluorescence signal. The fluorescence image of the sample can be viewed through the eyepieces and also recorded by a CCD camera. An optical fiber is mounted onto the image plane of the photograph

  18. Basal cell carcinoma develops in contact with the epidermal basal cell layer - a three-dimensional morphological study.

    PubMed

    Pirici, Ionica; Ciurea, Marius Eugen; Mîndrilă, Ion; Avrămoiu, Ioan; Pirici, Alexandru; Nicola, Monica Georgiana; Rogoveanu, Otilia Constantina

    2016-01-01

    Basal cell carcinoma is the most common malignant tumor of the skin, and it develops most frequently on the areas of the body that make its treatment and care extremely difficult, especially in cases of neglecting or aggressive growth and invasion. Both typical mild cases as well as locally aggressive tumor types do not tend to metastasize, and it has been postulated that they should share some common biological and morphological features that might explain this behavior. In this study, we have utilized a high-resolution three-dimensional reconstruction technique on pathological samples from 15 cases of common aggressive (fibrosing and adenoid types) and mild (superficial type) basal cell carcinomas, and showed that all these types shared contact points and bridges with the underlying basal cell layer of the epidermis or with the outmost layer of the hair follicle. The connections found had in fact the highest number for fibrosing type (100%), compared to the superficial (85.71%) and adenoid (55%) types. The morphology of the connection bridges was also different, adjacent moderate to abundant inflammatory infiltrate seeming to lead to a loss of basaloid features in these areas. For the adenoid type, tumor islands seemed to be connected also to each other more strongly, forming a common "tumor lace", and while it has been showed that superficial and fibrosing types have higher recurrence risks, all together these data might iterate a connection between the number of bridging points and the biological and clinical manifestation of this skin tumor. PMID:27151694

  19. Chemopreventive opportunities to control basal cell carcinoma: Current perspectives.

    PubMed

    Tilley, Cynthia; Deep, Gagan; Agarwal, Rajesh

    2015-09-01

    Basal cell carcinoma (BCC) is a major health problem with approximately 2.8 million new cases diagnosed each year in the United States. BCC incidences have continued to rise due to lack of effective chemopreventive options. One of the key molecular characteristics of BCC is the sustained activation of hedgehog signaling through inactivating mutations in the tumor suppressor gene patch (Ptch) or activating mutations in Smoothened. In the past, several studies have addressed targeting the activated hedgehog pathway for the treatment and prevention of BCC, although with toxic effects. Other studies have attempted BCC chemoprevention through targeting the promotional phase of the disease especially the inflammatory component. The compounds that have been utilized in pre-clinical and/or clinical studies include green and black tea, difluoromethylornithine, thymidine dinucleotide, retinoids, non-steroidal anti-inflammatory drugs, vitamin D3, and silibinin. In this review, we have discussed genetic and epigenetic modifications that occur during BCC development as well as the current state of BCC pre-clinical and clinical chemoprevention studies. PMID:26053157

  20. Clinicopathological analysis of recurrent basal cell carcinoma of the eyelid

    PubMed Central

    Zieliński, Tomasz; Antoszewski, Bogusław; Sporny, Stanisław

    2016-01-01

    Introduction Basal cell carcinoma (BCC) is the most common malignant neoplasm of the eyelids and surrounding structures, usually developing in the area of the lower lid and medial canthus. Invasive forms of BCC are connected with a high risk of recurrence, often due to incomplete excision of these lesions. Aim Clinical and pathological analysis of recurrent BCCs of the eyelids and surrounding structures. Material and methods We present clinical and pathological analysis including immunohistochemical reaction to Ki-67 antigen of 19 patients (11 women, 8 men) operated for recurrent BCCs of the eyelids in 2000–2012. Results In most cases, recurrences were present on the lower lid and in the medial canthus. In 15 patients the histopathological type did not change and in 4 cases it transformed into more invasive forms. The values of Ki-67 index for primary BCCs ranged between 1% and 20%, and for relapsing lesions between 11% and 48%. Conclusions Proper clinical and pathological evaluation to determine the risk of relapse in BCCs of the eyelids and surrounding structures should include the analysis of prognostic factors, in particular location and size, histopathological type and radicalness of surgical treatment of primary BCCs. Clinical and pathological analysis of patients with recurrent BCC of the eyelids and surrounding structures should be combined with the evaluation of proliferation index Ki-67, which is essential for prognosis and choice of the appropriate therapeutic method. PMID:26985178

  1. Time-resolved multiphoton imaging of basal cell carcinoma

    NASA Astrophysics Data System (ADS)

    Cicchi, R.; Sestini, S.; De Giorgi, V.; Stambouli, D.; Carli, P.; Massi, D.; Pavone, F. S.

    2007-02-01

    We investigated human cutaneous basal cell carcinoma ex-vivo samples by combined time resolved two photon intrinsic fluorescence and second harmonic generation microscopy. Morphological and spectroscopic differences were found between malignant skin and corresponding healthy skin tissues. In comparison with normal healthy skin, cancer tissue showed a different morphology and a mean fluorescence lifetime distribution slightly shifted towards higher values. Topical application of delta-aminolevulinic acid to the lesion four hours before excision resulted in an enhancement of the fluorescence signal arising from malignant tissue, due to the accumulation of protoporphyrines inside tumor cells. Contrast enhancement was prevalent at tumor borders by both two photon fluorescence microscopy and fluorescence lifetime imaging. Fluorescence-based images showed a good correlation with conventional histopathological analysis, thereby supporting the diagnostic accuracy of this novel method. Combined morphological and lifetime analysis in the study of ex-vivo skin samples discriminated benign from malignant tissues, thus offering a reliable, non-invasive tool for the in-vivo analysis of inflammatory and neoplastic skin lesions.

  2. Neglected Basal Cell Carcinomas in the 21st Century

    PubMed Central

    Varga, Erika; Korom, Irma; Raskó, Zoltán; Kis, Erika; Varga, János; Oláh, Judit; Kemény, Lajos

    2011-01-01

    Although tumors on the surface of the skin are considered to be easily recognizable, neglected advanced skin neoplasms are encountered even in the 21st century. There can be numerous causes of the delay in the diagnosis: fear of the diagnosis and the treatment, becoming accustomed to a slowly growing tumor, old age, a low social milieu, and an inadequate hygienic culture are among the factors leading some people not to seek medical advice. The treatment of such advanced neoplasms is usually challenging. The therapy of neglected cases demands an individual multidisciplinary approach and teamwork. Basal cell carcinoma (BCC), the most common cutaneous tumor, usually develops in the elderly, grows slowly, and has an extremely low metastatic potential; these factors are suggesting that BCCs might well be the “ideal candidates” for neglected tumors. Five neglected advanced cases of BCC were diagnosed in our dermatological institute between 2000 and 2009. The clinical characteristics and treatment modalities of these neoplasms are discussed, together with the possible causes of the neglect. PMID:21151693

  3. Morphological Spectrum of Basal Cell Carcinoma in Southern Karnataka

    PubMed Central

    Lobo, Flora Dorothy; Naik, Ramdas; Khadilkar, Urmila Niranjan; Kini, Hema; Kini, Ullal Anand

    2016-01-01

    Introduction Basal Cell Carcinoma (BCC) is the most common skin cancer worldwide, which appears over sun-exposed skin as slow-growing, locally invasive lesion that rarely metastasizes. Many phenotypic presentations are possible. BCCs are more common in males and tend to occur in older people. Majority is found on the head and neck. Many histopathological subtypes have been defined including nodular, micronodular, cystic, superficial, pigmented, adenoid, infiltrating, sclerosing, keratotic, infundibulocystic, metatypical, basosquamous and fibroepitheliomatous. Mixed patterns are common. Aim The aim was to study morphological spectrum of BCC in a tertiary care hospital in southern Karnataka. Materials and Methods This was a retrospective analysis of 100 cases of BCCs reported in the Department of Pathology over a 9-year period from 2006 to 2014. Results The mean age of presentation was 62 years. There was slight female preponderance (56%). The most common location was face (65%) and the most common presentation was ulceration (45%). Of the 100 BCCs, 50% were nodular, 13% infiltrating, 6% basosquamous, 4% superficial, 3% keratotic, 3% multinodular and 1% mixed. Conclusion BCC, besides being the commonest cutaneous cancer, is also known for its numerous histological patterns which are shown to have prognostic implications. This study reveals the frequency of the various histological patterns of BCC in southern Karnataka, where it has been rarely studied before. PMID:27504291

  4. Ionizing Radiation Exposure and Basal Cell Carcinoma Pathogenesis.

    PubMed

    Li, Changzhao; Athar, Mohammad

    2016-03-01

    This commentary summarizes studies showing risk of basal cell carcinoma (BCC) development in relationship to environmental, occupational and therapeutic exposure to ionizing radiation (IR). BCC, the most common type of human cancer, is driven by the aberrant activation of hedgehog (Hh) signaling. Ptch, a tumor suppressor gene of Hh signaling pathway, and Smoothened play a key role in the development of radiation-induced BCCs in animal models. Epidemiological studies provide evidence that humans exposed to radiation as observed among the long-term, large scale cohorts of atomic bomb survivors, bone marrow transplant recipients, patients with tinea capitis and radiologic workers enhances risk of BCCs. Overall, this risk is higher in Caucasians than other races. People who were exposed early in life develop more BCCs. The enhanced IR correlation with BCC and not other common cutaneous malignancies is intriguing. The mechanism underlying these observations remains undefined. Understanding interactions between radiation-induced signaling pathways and those which drive BCC development may be important in unraveling the mechanism associated with this enhanced risk. Recent studies showed that Vismodegib, a Smoothened inhibitor, is effective in treating radiation-induced BCCs in humans, suggesting that common strategies are required for the intervention of BCCs development irrespective of their etiology. PMID:26930381

  5. Sonidegib phosphate: new approval for basal cell carcinoma.

    PubMed

    Tibes, R

    2016-05-01

    Basal cell carcinoma (BCC), although mostly locally confined, is the most common cancer. Most BCCs harbor inactivating mutations in the membrane receptor/gene Ptch, thereby activating the Hedgehog signaling pathway (Hh) via the essential signaling molecule Smoothened (SMO). Novel small-molecule inhibitors or antagonists of SMO have shown excellent response rates in patients with locally advanced, unresectable and metastatic BCC in roughly 35-60% of patients, with disease control rates and clinical benefit being even higher. Sonidegib is the second-in-class SMO inhibitor approved for locally advanced, unresectable and metastatic BCC. Sonidegib is given once daily continuously, with specific side effects as listed in the label indication. Resistance develops over time and knowledge gleaned from other SMO inhibitors indicates that SMO mutations preventing drug binding as well as mechanisms activating the Hh pathway downstream of SMO are responsible, ultimately reactivating Hh pathway signaling. The next challenge will be to define novel salvage and SMO combination strategies for BCC and other tumors. PMID:27376162

  6. TERT Promoter Mutations Are Frequent in Cutaneous Basal Cell Carcinoma and Squamous Cell Carcinoma

    PubMed Central

    Griewank, Klaus G.; Murali, Rajmohan; Schilling, Bastian; Schimming, Tobias; Möller, Inga; Moll, Iris; Schwamborn, Marion; Sucker, Antje; Zimmer, Lisa; Schadendorf, Dirk; Hillen, Uwe

    2013-01-01

    Activating mutations in the TERT promoter were recently identified in up to 71% of cutaneous melanoma. Subsequent studies found TERT promoter mutations in a wide array of other major human cancers. TERT promoter mutations lead to increased expression of telomerase, which maintains telomere length and genomic stability, thereby allowing cancer cells to continuously divide, avoiding senescence or apoptosis. TERT promoter mutations in cutaneous melanoma often show UV-signatures. Non-melanoma skin cancer, including basal cell carcinoma and squamous cell carcinoma, are very frequent malignancies in individuals of European descent. We investigated the presence of TERT promoter mutations in 32 basal cell carcinomas and 34 cutaneous squamous cell carcinomas using conventional Sanger sequencing. TERT promoter mutations were identified in 18 (56%) basal cell carcinomas and in 17 (50%) cutaneous squamous cell carcinomas. The recurrent mutations identified in our cohort were identical to those previously described in cutaneous melanoma, and showed a UV-signature (C>T or CC>TT) in line with a causative role for UV exposure in these common cutaneous malignancies. Our study shows that TERT promoter mutations with UV-signatures are frequent in non-melanoma skin cancer, being present in around 50% of basal and squamous cell carcinomas and suggests that increased expression of telomerase plays an important role in the pathogenesis of these tumors. PMID:24260374

  7. Laser ablation of basal cell carcinomas guided by confocal microscopy

    NASA Astrophysics Data System (ADS)

    Sierra, Heidy; Cordova, Miguel; Nehal, Kishwer; Rossi, Anthony; Chen, Chih-Shan Jason; Rajadhyaksha, Milind

    2016-02-01

    Laser ablation offers precise and fast removal of superficial and early nodular types of basal cell carcinomas (BCCs). Nevertheless, the lack of histological confirmation has been a limitation. Reflectance confocal microscopy (RCM) imaging combined with a contrast agent can offer cellular-level histology-like feedback to detect the presence (or absence) of residual BCC directly on the patient. We conducted an ex vivo bench-top study to provide a set of effective ablation parameters (fluence, number of passes) to remove superficial BCCs while also controlling thermal coagulation post-ablation to allow uptake of contrast agent. The results for an Er:YAG laser (2.9 um and pulse duration 250us) show that with 6 passes of 25 J/cm2, thermal coagulation can be effectively controlled, to allow both the uptake of acetic acid (contrast agent) and detection of residual (or absence) BCCs. Confirmation was provided with histological examination. An initial in vivo study on 35 patients shows that the uptake of contrast agent aluminum chloride) and imaging quality is similar to that observed in the ex vivo study. The detection of the presence of residual tumor or complete clearance was confirmed in 10 wounds with (additional) histology and in 25 lesions with follow-up imaging. Our results indicate that resolution is sufficient but further development and use of appropriate contrast agent are necessary to improve sensitivity and specificity. Advances in RCM technology for imaging of lateral and deep margins directly on the patient may provide less invasive, faster and less expensive image-guided approaches for treatment of BCCs.

  8. Long-noncoding RNAs in basal cell carcinoma.

    PubMed

    Sand, Michael; Bechara, Falk G; Sand, Daniel; Gambichler, Thilo; Hahn, Stephan A; Bromba, Michael; Stockfleth, Eggert; Hessam, Schapoor

    2016-08-01

    Long noncoding RNAs (lncRNAs) are fundamental regulators of pre- and post-transcriptional gene regulation. Over 35,000 different lncRNAs have been described with some of them being involved in cancer formation. The present study was initiated to describe differentially expressed lncRNAs in basal cell carcinoma (BCC). Patients with BCC (n = 6) were included in this study. Punch biopsies were harvested from the tumor center and nonlesional epidermal skin (NLES, control, n = 6). Microarray-based lncRNA and mRNA expression profiles were identified through screening for 30,586 lncRNAs and 26,109 protein-coding transcripts (mRNAs). The microarray data were validated by RT-PCR in a second set of BCC versus control samples. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses of mRNAs were performed to assess biologically relevant pathways. A total of 1851 lncRNAs were identified as being significantly up-regulated, whereas 2165 lncRNAs were identified as being significantly down-regulated compared to nonlesional skin (p < 0.05). Oncogenic and/or epidermis-specific lncRNAs, such as CASC15 or ANRIL, were among the differentially expressed sequences. GO analysis showed that the highest enriched GO targeted by up-regulated transcripts was "extracellular matrix." KEGG pathway analysis showed the highest enrichment scores in "Focal adhesion." BCC showed a significantly altered lncRNA and mRNA expression profile. Dysregulation of previously described lncRNAs may play a role in the molecular pathogenesis of BCC and should be subject of further analysis. PMID:26861560

  9. Facial dermis grafts after removal of basal cell carcinomas.

    PubMed

    Han, Seung-Kyu; Yoon, Won-Young; Jeong, Seong-Ho; Kim, Woo-Kyung

    2012-11-01

    Selecting a proper reconstruction method is the key to success in skin cancer management, especially for lesions involving the face. Using a skin graft is usually straightforward when covering a skin defect; however, major concerns in skin grafting include a poor color match in the recipient-site and donor-site morbidity. To overcome these limitations, the authors have developed a dermis graft, which utilizes a de-epithelialized split-thickness skin graft method. The purpose of this retrospective study was to report reliability of dermis grafts after removal of basal cell carcinomas (BCCs) on the face by presenting our clinical experience with them. This study included 38 patients who were treated for facial defects created by resection of BCCs. The locations of the defects were as follows: nose (n = 17), orbital area (n = 14), cheek (n = 4), temple area (n = 2), and forehead (n = 1). The defects ranged in size from 3.3 to 6.5 cm. Functional and cosmetic outcomes, postoperative complications, and patient satisfaction were assessed. The patients were followed up for 12 to 36 months. The entire dermis graft re-epithelialized after grafting within 17 to 27 days. Most of the patients had satisfactory results in both functional and cosmetic matters with high-quality skin characteristics. There were no significant complications and no recurrences were observed during the follow-up period. Patient satisfaction with the dermis graft was also excellent. The dermis graft may be used reliably for covering defects after removal of BCCs on the face. PMID:23172436

  10. Imaging of basal cell carcinoma tissue using en-face OCT

    NASA Astrophysics Data System (ADS)

    Penmetsa, Bhanu Rakesh; Khandwala, Mona; Bradu, Adrian; Hughes, Michael; Jones, Carole A.; Schofield, John; Podoleanu, Adrian Gh.

    2008-09-01

    We have investigated the applicability of en-face OCT in imaging freshly excised biopsies of Basal Cell Carcinoma. Encouraging results have been obtained in identifying tumor features and abnormal skin architecture.

  11. Basal Cell Carcinoma: A Comprehensive Review of Existing and Emerging Nonsurgical Therapies.

    PubMed

    Lanoue, Julien; Goldenberg, Gary

    2016-05-01

    Basal cell carcinoma is the most commonly occurring cancer in the world and overall incidence is still on the rise. While typically a slow-growing tumor for which metastases is rare, basal cell carcinoma can be locally destructive and disfiguring. Given the vast prevalence of this disease, there is a significant overall burden on patient well-being and quality of life. The current mainstay of basal cell carcinoma treatment involves surgical modalities, such as electrodessication and curettage, excision, cryosurgery, and Mohs micrographic surgery. Such methods are typically reserved for localized basal cell carcinoma and offer high five-year cure rates, but come with the risk of functional impairment, disfigurement, and scarring. Here, the authors review the evidence and indications for nonsurgical treatment modalities in cases where surgery is impractical, contraindicated, or simply not desired by the patient. PMID:27386043

  12. Successful imiquimod treatment of multiple basal cell carcinomas after radiation therapy for Hodgkin's disease.

    PubMed

    Beyeler, Mirjam; Urosevic, Mirjana; Pestalozzi, Bernhard; Dummer, Reinhard

    2005-01-01

    We present a case of a 55-year-old male patient who developed five basal cell carcinomas 23 years after radiation therapy of Hodgkin's disease. In 1980 he received radiation therapy twice. Due to relapses, he was treated with aggressive polychemotherapy and underwent autologous stem cell transplantation, which then led to complete remission. Until now he is in complete remission. However, multiple superficial basal cell carcinomas have developed on irradiation fields that have been successfully treated by imiquimod. PMID:15701596

  13. [Basal cell carcinoma of prostate: a report of three cases].

    PubMed

    Liu, Z; Ma, L L; Zhang, S D; Lu, M; Tian, Y; He, Q; Jin, J

    2016-02-18

    To explore the clinical pathological characteristics and improve the recognition in the diagnosis and treatment of basal cell carcinoma (BCC) of prostate. Three cases of BCC of prostate were reported and the relevant literature was reviewed to investigate the diagnosis and treatment of this disease. We analyzed three cases of prostatic BCC. Their ages were within a range of 57 to 83 years. One of them complained of hematuria and two complained of dysuria. All of them presented with prostatic hyperplasia. Two of them presented with high prostate specific antigen (PSA) and one with normal PSA. Case 1 had prostate cancer invasion of bladder, rectal fascia, with lymph node metastasis, bone metastasis and lung metastases. The patient received bladder resection+bilateral ureteral cutaneous ureterostomy+lymph node dissection on November 2, 2014 . Postoperative pathological diagnosis showed BCC. Reexamination of pelvic enhanced MRI in January 8, 2015 suggested pelvic recurrence. Abdominal enhanced CT showed multiple liver metastases and pancreatic metastasis on July 11, 2015. Prostate cancer specific death occurred in October 2015. Case 2 was diagnosed as BCC in prostate biopsy on March 27, 2015. Positron emission tomography and computed tomography (PET-CT) showed pulmonary metastasis and bone metastasis. Then the patient received chemotherapy, endocrine therapy and local radiation therapy. Reexamination of PET-CT on January 11, 2016 showed that the lung metastase tumors and bone metastase tumors were larger than before. Up to January 10, 2016, the patient was still alive. Postoperative pathological changes of transurethral resection of prostate (TURP) in case 3 showed BCC might be considered. The PET-CT suggested residual prostate cancer, which might be associated with bilateral pelvic lymph node metastasis. In April 20, 2016, the review of PET-CT showed pelvic huge irregular hybrid density shadow, about 14.5 cm×10.0 cm×12.9 cm in size, and tumor recurrence was

  14. Photodynamic therapy with 5-aminoolevulinic acid-induced porphyrins and DMSO/EDTA for basal cell carcinoma

    NASA Astrophysics Data System (ADS)

    Warloe, Trond; Peng, Qian; Heyerdahl, Helen; Moan, Johan; Steen, Harald B.; Giercksky, Karl-Erik

    1995-03-01

    Seven hundred sixty three basal cell carcinomas (BCCs) in 122 patients were treated by photodynamic therapy by 5-aminolevulinic acid (ALA) in cream topically applied, either alone, in combination with dimethyl sulphoxide (DMSO) and ethylenediaminetetraacetic acid disodium salt (EDTA), or with DMSO as a pretreatment. After 3 hours cream exposure 40 - 200 Joules/cm2 of 630 nm laser light was given. Fluorescence imaging of biopsies showed highly improved ALA penetration depth and doubled ALA-induced porphyrin production using DMSO/EDTA. Treatment response was recorded after 3 months. After a single treatment 90% of 393 superficial lesions responded completely, independent of using DMSO/EDTA. In 363 nodulo-ulcerative lesions the complete response rate increased from 67% to above 90% with DMSO/EDTA for lesions less than 2 mm thickness and from 34% to about 50% for lesions thicker than 2 mm. Recurrence rate observed during a follow-up period longer than 12 months was 2 - 5%. PDT of superficial thin BCCs with ALA-induced porphyrins and DMSO/EDTA equals surgery and radiotherapy with respect to cure rate and recurrence. Cosmetic results of ALA-based PDT seemed to be better than those after other therapies. In patients with the nevoid BCC syndrome the complete response rate after PDT was far lower.

  15. Clinical, Histopathological and Therapeutical Analysis of Inferior Eyelid Basal Cell Carcinomas

    PubMed Central

    Totir, M; Alexandrescu, C; Pirvulescu, R; Gradinaru, S; Costache, M

    2014-01-01

    Rationale: Eyelids are very susceptible area for non-melanoma skin cancers; among that, basal cell carcinoma has the highest incidence (almost 90% of malignant eyelid tumors) and 50-60% of eyelid basal cell carcinomas appear on inferior eyelid. Objective: To analyze clinical features of inferior eyelid basal cell carcinoma and to determine the efficacy of surgical treatment with frozen sectioncontrolled margins and methods of primary reconstruction of defects. Methods: A review of medical records of cases with primary inferior eyelid basal cell carcinoma treated by surgical excision with urgent histopathology controlled margins by FS technique, doubled by paraffin examination from October 2011 to October 2014. After histopathology confirmation of tumor free margins, proper inferior eyelid reconstruction was performed. Results: The review resulted in 36 patients with 36 lesions analyzed by clinical, histopatological and therapeuticalaspectswith a mean follow-up of 20 months. All lesions were primary BCC affecting inferior eyelid. There were no recurrence in the follow-up period. Inferior eyelid reconstruction techniques were direct closure for small defects and complex techniques for defects more than one third of eyelid length. Discussion: Appropriate eyelid examination is mandatory in any routine ophthalmic check-up. Clinical signs suggestive of BCC should be familiar to ophthalmologist in order to have an early diagnosis and treatment for these tumors. Surgical treatment with FS controlled excision followed by eyelid reconstruction is an efficient treatment for inferior eyelid BCC. Abbreviations: basal cell carcinoma (BCC); frozen section (FS);Mohs micrographic surgery (MMS). PMID:27057245

  16. Basal cell carcinoma in a blue-fronted amazon parrot (Amazona aestiva).

    PubMed

    Tell, L A; Woods, L; Mathews, K G

    1997-01-01

    Tumors of the integumentary system are relatively common in companion birds. Dermal tumors in pet birds can be epithelial, mesenchymal, or vascular in origin. Basal cell carcinomas appear to be extremely rare in birds. An adult female blue-fronted Amazon parrot was examined because it exhibited bilateral cervical masses that extended from the base of the skull to the ingluvial region. The tumors were removed by surgical excision. Microscopic examination of the masses revealed neoplastic epithelial cells that extended to all borders of the sections; scattered vessels with neoplastic cells within their lumens were also found. The histopathologic diagnosis was basal cell carcinoma. Six weeks postoperatively, the masses recurred and the bird was euthanatized. This report suggests that basal cell carcinomas should be considered as a differential for avian dermal tumors. This neoplastic condition can be aggressive and has the potential to metastasize. PMID:9356728

  17. A Case of Basal Cell Carcinoma with Outer Hair Follicle Sheath Differentiation.

    PubMed

    Onishi, Masazumi; Takahashi, Kazuhiro; Maeda, Fumihiko; Akasaka, Toshihide

    2015-01-01

    A 70-year-old Japanese man presented at our hospital with an asymptomatic, blackish, irregularly shaped plaque with a gray nodule in the periphery on his left lower leg. The lesion had been present for 10 years and had recently enlarged, associated with bleeding. Histopathologically, the tumor consisted of three distinct parts: The first part showed massive aggregation of basophilic basaloid cells with peripheral palisading and abundant melanin granules, and was diagnosed as solid-type basal cell carcinoma. The second part showed aggregation of clear cells with squamous eddies, and was diagnosed as proliferating trichilemmal tumor. The third part showed reticular aggregation of basaloid cells with infundibular cysts in the papillary dermis, and was diagnosed as infundibulocystic basal cell carcinoma. We diagnosed this tumor as basal cell carcinoma with various forms of hair follicle differentiation, including differentiation into the outer root sheath. PMID:26955331

  18. A Case of Basal Cell Carcinoma with Outer Hair Follicle Sheath Differentiation

    PubMed Central

    Onishi, Masazumi; Takahashi, Kazuhiro; Maeda, Fumihiko; Akasaka, Toshihide

    2015-01-01

    A 70-year-old Japanese man presented at our hospital with an asymptomatic, blackish, irregularly shaped plaque with a gray nodule in the periphery on his left lower leg. The lesion had been present for 10 years and had recently enlarged, associated with bleeding. Histopathologically, the tumor consisted of three distinct parts: The first part showed massive aggregation of basophilic basaloid cells with peripheral palisading and abundant melanin granules, and was diagnosed as solid-type basal cell carcinoma. The second part showed aggregation of clear cells with squamous eddies, and was diagnosed as proliferating trichilemmal tumor. The third part showed reticular aggregation of basaloid cells with infundibular cysts in the papillary dermis, and was diagnosed as infundibulocystic basal cell carcinoma. We diagnosed this tumor as basal cell carcinoma with various forms of hair follicle differentiation, including differentiation into the outer root sheath. PMID:26955331

  19. Hedgehog pathway inhibition in advanced basal cell carcinoma: latest evidence and clinical usefulness.

    PubMed

    Silapunt, Sirunya; Chen, Leon; Migden, Michael R

    2016-09-01

    Treatment of locally advanced basal cell carcinomas (laBCCs) with large, aggressive, destructive, and disfiguring tumors, or metastatic disease is challenging. Dysregulation of the Hedgehog (Hh) signaling pathway has been identified in the vast majority of basal cell carcinomas (BCCs). There are two United States Food and Drug Administration (US FDA)-approved Hh pathway inhibitors (HPIs) that exhibit antitumor activity in advanced BCC with an acceptable safety profile. Common adverse effects include muscle spasms, dysgeusia, alopecia, fatigue, nausea and weight loss. PMID:27583029

  20. Coexistence of Solid (Nodular) and Differentiated (Adenoid) Basal Cell Carcinoma at the Same Anatomical Site

    PubMed Central

    Rao, Angoori Gnaneshwar

    2015-01-01

    Coexistence of two different histopathological types of basal cell carcinomas (BCCs) in the same anatomical site is rare and interesting. Herein, we report a case of coexistence of nodular and adenoid BCC in a 78-year-old peasant who presented with a plaque and a globular swelling on left paranasal region of few years duration. Histopathology of skin biopsy with immunohistochemistry study using antibodies to S100, epithelial membrane antigen (EMA) and cytokeratin 7 (CK 7) from the margin of the ulcer and globular swelling confirmed the diagnosis that revealed features of nodular and adenoid basal cell carcinoma, respectively. Investigative work up did not reveal evidence of metastasis. PMID:26538745

  1. Hedgehog pathway inhibition in advanced basal cell carcinoma: latest evidence and clinical usefulness

    PubMed Central

    Silapunt, Sirunya; Chen, Leon; Migden, Michael R.

    2016-01-01

    Treatment of locally advanced basal cell carcinomas (laBCCs) with large, aggressive, destructive, and disfiguring tumors, or metastatic disease is challenging. Dysregulation of the Hedgehog (Hh) signaling pathway has been identified in the vast majority of basal cell carcinomas (BCCs). There are two United States Food and Drug Administration (US FDA)-approved Hh pathway inhibitors (HPIs) that exhibit antitumor activity in advanced BCC with an acceptable safety profile. Common adverse effects include muscle spasms, dysgeusia, alopecia, fatigue, nausea and weight loss. PMID:27583029

  2. Treatment of Basal Cell Carcinoma in the Elderly: What Nondermatologists Need to Know.

    PubMed

    Wiznia, Lauren E; Federman, Daniel G

    2016-07-01

    As the population ages and incidence of basal cell carcinoma continues to increase, we will be faced more frequently with difficult treatment decisions for basal cell carcinoma in the elderly. Different treatment options, including surgical excision, electrodessication and curettage, cryosurgery, imiquimod, photodynamic therapy, 5-fluorouracil, radiation therapy, vismodegib, combination therapy, and observation, may be considered on the basis of tumor characteristics. Given the wide range of therapeutic options, treatments can be tailored to achieve patients' goals of care within their anticipated life expectancy. PMID:27046242

  3. Fibroepithelioma of Pinkus in continuity with nodular basal cell carcinoma: A rare presentation.

    PubMed

    Dongre, Atul M; Khopkar, Uday S; Kalyanpad, Yogesh N; Gole, Prachi V

    2016-01-01

    Fibroepithelioma of Pinkus and nodular basal cell carcinoma (BCC) are different morphological variants of BCC. It is very rare to see both the variants together in a single lesion. Here we report a case of a 56-year-old female who presented with a nodule on the trunk, which on biopsy showed features of both nodular BCC and fibroepithelioma of Pinkus. PMID:27559504

  4. Fibroepithelioma of Pinkus in continuity with nodular basal cell carcinoma: A rare presentation

    PubMed Central

    Dongre, Atul M.; Khopkar, Uday S.; Kalyanpad, Yogesh N.; Gole, Prachi V.

    2016-01-01

    Fibroepithelioma of Pinkus and nodular basal cell carcinoma (BCC) are different morphological variants of BCC. It is very rare to see both the variants together in a single lesion. Here we report a case of a 56-year-old female who presented with a nodule on the trunk, which on biopsy showed features of both nodular BCC and fibroepithelioma of Pinkus. PMID:27559504

  5. Acitretin systemic and retinoic acid 0.1% cream supression of basal cell carcinoma

    PubMed Central

    Zhang, Xi-Bao; Zhang, San-Quan; Li, Chang-Xing; Huang, Zhen-Ming; Luo, Yu-Wu

    2010-01-01

    Retinoids have been used for years as monotherapy and/or in combination for treatment and suppression of cutaneous malignancies in patients with basal cell nevus syndrome, xeroderma pigmentosum, or cutaneous T-cell lymphoma (CTCL) basal cell carcinoma (BCC). We report 4 cases with BCC confirmed by histopathology who were treated by short-term systemic acitretin combined with retinoic acid 0.1% cream. The 4 cases with BCC showed good response to the treatment without severe adverse effects during treatment and follow-up. The finding suggests that acitretin may be an appropriate treatment option for elderly patients who require less invasive treatment for BCC. PMID:25386240

  6. Basal cell carcinoma and the carcinogenic role of aberrant Hedgehog signaling.

    PubMed

    Saran, Anna

    2010-06-01

    Basal cell carcinoma (BCC) is the most frequent cancer in the white population and its incidence appears to be increasing worldwide. While the majority of BCCs arise sporadically, many cases are attributable to basal cell nevus syndrome, or Gorlin syndrome, an autosomal dominantly inherited disorder characterized by the occurrence of multiple BCCs and by extracutaneous tumors. Genetic studies on patients with basal cell nevus syndrome indicate deregulation of the Hedgehog (Hh) pathway in epidermal keratinocytes as the primary event in the pathogenesis of BCC. This article summarizes the recent progress in understanding Hh-dependent BCC tumorigenesis, as well as evidence for deregulation of other molecular pathways, primarily the Wnt developmental pathway. Understanding the molecular genetics of BCC development has provided new opportunities for molecular therapy of this cancer by targeting Hh and other signaling pathways. PMID:20528237

  7. A subset of prostatic basal cell carcinomas harbor the MYB rearrangement of adenoid cystic carcinoma.

    PubMed

    Bishop, Justin A; Yonescu, Raluca; Epstein, Jonathan I; Westra, William H

    2015-08-01

    Adenoid cystic carcinoma (ACC) is a basaloid tumor consisting of myoepithelial and ductal cells typically arranged in a cribriform pattern. Adenoid cystic carcinoma is generally regarded as a form of salivary gland carcinoma, but it can arise from sites unassociated with salivary tissue. A rare form of prostate carcinoma exhibits ACC-like features; it is no longer regarded as a true ACC but rather as prostatic basal cell carcinoma (PBCC) and within the spectrum of basaloid prostatic proliferations. True ACCs often harbor MYB translocations resulting in the MYB-NFIB fusion protein. MYB analysis could clarify the true nature of prostatic carcinomas that exhibit ACC features and thus help refine the classification of prostatic basaloid proliferations. Twelve PBCCs were identified from the pathology consultation files of Johns Hopkins Hospital. The histopathologic features were reviewed, and break-apart fluorescence in situ hybridization for MYB was performed. All 12 cases exhibited prominent basaloid histology. Four were purely solid, 7 exhibited a cribriform pattern reminiscent of salivary ACC, and 1 had a mixed pattern. The MYB rearrangement was detected in 2 (29%) of 7 ACC-like carcinomas but in none (0%) of the 5 PBCCs with a prominent solid pattern. True ACCs can arise in the prostate as is evidenced by the presence of the characteristic MYB rearrangement. When dealing with malignant basaloid proliferations in the prostate, recommendations to consolidate ACCs with other tumor types may need to be reassessed, particularly in light of the rapidly advancing field of biologic therapy where the identification of tumor-specific genetic alterations presents novel therapeutic targets. PMID:26089205

  8. Perineural Infiltration of Cutaneous Squamous Cell Carcinoma and Basal Cell Carcinoma Without Clinical Features

    SciTech Connect

    Lin, Charles; Tripcony, Lee; Keller, Jacqui; Poulsen, Michael; Martin, Jarad; Jackson, James; Dickie, Graeme

    2012-01-01

    Purpose: To review the factors that influence outcome and patterns of relapse in patients with cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) with perineural infiltration (PNI) without clinical or radiologic features, treated with surgery and radiotherapy. Methods and Materials: Between 1991 and 2004, 222 patients with SCC or BCC with PNI on pathologic examination but without clinical or radiologic PNI features were identified. Charts were reviewed retrospectively and relevant data collected. All patients were treated with curative intent; all had radiotherapy, and most had surgery. The primary endpoint was 5-year relapse-free survival from the time of diagnosis. Results: Patients with SCC did significantly worse than those with BCC (5-year relapse-free survival, 78% vs. 91%; p < 0.01). Squamous cell carcinoma with PNI at recurrence did significantly worse than de novo in terms of 5-year local failure (40% vs. 19%; p < 0.01) and regional relapse (29% vs. 5%; p < 0.01). Depth of invasion was also a significant factor. Of the PNI-specific factors for SCC, focal PNI did significantly better than more-extensive PNI, but involved nerve diameter or presence of PNI at the periphery of the tumor were not significant factors. Conclusions: Radiotherapy in conjunction with surgery offers an acceptable outcome for cutaneous SCC and BCC with PNI. This study suggests that focal PNI is not an adverse feature.

  9. Differential senescence capacities in meibomian gland carcinoma and basal cell carcinoma.

    PubMed

    Zhang, Leilei; Huang, Xiaolin; Zhu, Xiaowei; Ge, Shengfang; Gilson, Eric; Jia, Renbing; Ye, Jing; Fan, Xianqun

    2016-03-15

    Meibomian gland carcinoma (MGC) and basal cell carcinoma (BCC) are common eyelid carcinomas that exhibit highly dissimilar degrees of proliferation and prognoses. We address here the question of the differential mechanisms between these two eyelid cancers that explain their different outcome. A total of 102 confirmed MGC and 175 diagnosed BCC cases were analyzed. Twenty confirmed MGC and twenty diagnosed BCC cases were collected to determine the telomere length, the presence of senescent cells, and the expression levels of the telomere capping shelterin complex, P53, and the E3 ubiquitin ligase Siah1. Decreased protein levels of the shelterin subunits, shortened telomere length, over-expressed Ki-67, and Bcl2 as well as mutations in P53 were detected both in MGC and BCC. It suggests that the decreased protein levels of the shelterin complex and the shortened telomere length contribute to the tumorigenesis of MGC and BCC. However, several parameters distinguish MGC from BCC samples: (i) the mRNA level of the shelterin subunits decreased in MGC but it increased in BCC; (ii) P53 was more highly mutated in MGC; (iii) Siah1 mRNA was over-expressed in BCC; (iv) BCC samples contain a higher level of senescent cells; (v) Ki-67 and Bcl2 expression were lower in BCC. These results support a model where a preserved P53 checkpoint in BCC leads to cellular senescence and reduced tumor proliferation as compared to MGC. PMID:26437300

  10. Review of photodynamic therapy in actinic keratosis and basal cell carcinoma

    PubMed Central

    Ericson, Marica B; Wennberg, Ann-Marie; Larkö, Olle

    2008-01-01

    The number of non-melanoma skin cancers is increasing worldwide, and so also the demand for effective treatment modalities. Topical photodynamic therapy (PDT) using aminolaevulinic acid or its methyl ester has recently become good treatment options for actinic keratosis and basal cell carcinoma; especielly when treating large areas and areas with field cancerization. The cure rates are usually good, and the cosmetic outcomes excellent. The only major side effect reported is the pain experienced by the patients during treatment. This review covers the fundamental aspects of topical PDT and its application for treatment of actinic keratosis and basal cell carcinoma. Both potentials and limitations will be reviewed, as well as some recent development within the field. PMID:18728698

  11. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.

    PubMed

    Evans, D G; Ladusans, E J; Rimmer, S; Burnell, L D; Thakker, N; Farndon, P A

    1993-06-01

    There are many potential complications which have been reported in association with the naevoid basal cell carcinoma syndrome. We have been able to show the relative frequencies of these problems in a population based study of 84 cases in the north west of England. The major complications of basal cell carcinomas and jaw cysts occur in over 90% of patients by 40 years of age, but may both occur before 10 years of age. Less well described complications are ovarian calcification or fibroma (24%), medulloblastoma (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as squint or cataract (26%). This study more clearly defines the possible complications of the syndrome and gives clearer guidelines for counselling and screening affected and at risk persons. PMID:8326488

  12. Superficial Basal Cell Carcinoma on the Face is a Diagnostic Challenge

    PubMed Central

    Singha, Joydeep; Patel, Naval

    2016-01-01

    Basal cell carcinoma (BCC) is the most common non-melanoma skin cancer. The incidence of BCC is rising. The nodular, superficial spreading, and infiltrating variants are the three most commonly encountered types of BCC in descending order of prevalence. Superficial spreading basal cell carcinoma (SSBCC) accounts for 15-26% of all cases of BCC. It usually occurs on the trunk and upper extremities, but may be seen on the face. Surgical excision is the most commonly used treatment for BCC. Topical chemotherapy agents such as imiquimod or 5-fluorouracil (5-FU) may be various alternatives or adjuvants in the treatment of SSBCC. characteristically shows areas of uninvolved skin between tumor nests.[7] PMID:27057051

  13. Dynamic focus optical coherence tomography: feasibility for improved basal cell carcinoma investigation

    NASA Astrophysics Data System (ADS)

    Nasiri-Avanaki, M. R.; Aber, Ahmed; Hojjatoleslami, S. A.; Sira, Mano; Schofield, John B.; Jones, Carole; Podoleanu, A. Gh.

    2012-03-01

    Basal cell carcinoma (BCC) is the most common form of skin cancer. To improve the diagnostic accuracy, additional non-invasive methods of making a preliminary diagnosis have been sought. We have implemented an En-Face optical coherence tomography (OCT) for this study in which the dynamic focus was integrated into it. With the dynamic focus scheme, the coherence gate moves synchronously with the peak of confocal gate determined by the confocal interface optics. The transversal resolution is then conserved throughout the depth range and an enhanced signal is returned from all depths. The Basal Cell Carcinoma specimens were obtained from the eyelid a patient. The specimens under went analysis by DF-OCT imaging. We searched for remarkable features that were visualized by OCT and compared these findings with features presented in the histology slices.

  14. Giant Basal Cell Carcinoma: A 12-Year Follow-up Case Report.

    PubMed

    Jiménez-Hernández, Fabiola; Caballero-Centeno, Ana M; Barrera-Pérez, María; Ramos-Garibay, José A

    2016-01-01

    Giant basal cell carcinomas (GBCCs) are a strange and aggressive variety of basal cell carcinomas (BCCs); they are characterized by deep tissue invasion, rapid growth, high risk of metastasis, and a poor prognosis. GBCCs represent 0.4%-1% of all BCCs. The pathogenesis of GBCC is sometimes linked to a spontaneous mutation in the PTCH gene, mapped to the q22.33 locus of chromosome 9. The key factor in the development of GBCC, in at least 30% of the cases, is the delay in seeking medical attention (7.5 ± 3.1 years). This is associated to a poor socioeconomic level, deficient hygiene, mental illness, advanced age, and the fact that BCCs are painless lesions. The authors present a Mexican female with a 2-year ulcer diagnosed as a GBCC in the year 2000, its initial therapeutic approach, and her follow-up during the next 12 years. PMID:26332533

  15. Superficial Basal Cell Carcinoma on the Face is a Diagnostic Challenge.

    PubMed

    Singha, Joydeep; Patel, Naval

    2016-01-01

    Basal cell carcinoma (BCC) is the most common non-melanoma skin cancer. The incidence of BCC is rising. The nodular, superficial spreading, and infiltrating variants are the three most commonly encountered types of BCC in descending order of prevalence. Superficial spreading basal cell carcinoma (SSBCC) accounts for 15-26% of all cases of BCC. It usually occurs on the trunk and upper extremities, but may be seen on the face. Surgical excision is the most commonly used treatment for BCC. Topical chemotherapy agents such as imiquimod or 5-fluorouracil (5-FU) may be various alternatives or adjuvants in the treatment of SSBCC. characteristically shows areas of uninvolved skin between tumor nests.[7]. PMID:27057051

  16. Basal Cell Carcinoma: Pathogenesis, Epidemiology, Clinical Features, Diagnosis, Histopathology, and Management

    PubMed Central

    Marzuka, Alexander G.; Book, Samuel E.

    2015-01-01

    Basal cell carcinoma (BCC) is the most common malignancy. Exposure to sunlight is the most important risk factor. Most, if not all, cases of BCC demonstrate overactive Hedgehog signaling. A variety of treatment modalities exist and are selected based on recurrence risk, importance of tissue preservation, patient preference, and extent of disease. The pathogenesis, epidemiology, clinical features, diagnosis, histopathology, and management of BCC will be discussed in this review. PMID:26029015

  17. Self-treatment of a basal cell carcinoma with "black and yellow salve".

    PubMed

    Osswald, Sandra S; Elston, Dirk M; Farley, Mary F; Alberti, John G; Cordero, Steven C; Kalasinsky, Victor F

    2005-09-01

    Patients may seek "alternative" or "non-traditional" therapies for dermatologic problems, frequently in search of a miraculous cure. However, many of these medicaments contain unknown compounds with questionable benefit and a potential for significant harm. We describe a patient who developed a large ulceration on her nose after applying "black and yellow salves" obtained from Mexico in an attempt to self-treat a basal cell carcinoma. PMID:16112364

  18. 980nm laser for difficult-to-treat basal cell carcinoma

    NASA Astrophysics Data System (ADS)

    Derjabo, A. D.; Cema, I.; Lihacova, I.; Derjabo, L.

    2013-06-01

    Begin basal cell carcinoma (BCC) is most common skin cancer over the world. There are around 20 modalities for BCC treatment. Laser surgery is uncommon option. We demonstrate our long term follow up results. Aim: To evaluate long term efficacy of a 980nm diode laser for the difficult-to-treat basal cell carcinoma. Materials and Methods: 167 patients with 173 basal cell carcinoma on the nose were treated with a 980 nm diode laser from May 1999 till May 2005 at Latvian Oncology center. All tumors were morphologically confirmed. 156 patients were followed for more than 5 years. Results: The lowest recurrence rate was observed in cases of superficial BCC, diameter<6mm bet the highest recurrence rate was in cases of infiltrative BCC and nodular recurrent BCC. Conclusions: 980 nm diode laser is useful tool in dermatology with high long term efficacy, good acceptance by the patients and good cosmetics results.

  19. PERIUNGUAL BASAL CELL CARCINOMA: A CASE REPORT WITH REVIEW OF LITERATURE

    PubMed Central

    Bandyopadhyay, Debabrata; Sen, Sumit

    2011-01-01

    Basal cell carcinomas (BCCs) are considered to be uncommon around the nail plate. An indolent lesion of this region should arouse suspicion of potential malignancy and a skin biopsy should be undertaken without delay. Early diagnosis can enable the physician to render simpler nondestructive modalities of treatment. In this article, we describe such a case of longstanding BCC of this region mimicking a traumatic ulcer. The nature of the ailment was finally discovered on biopsy and the carcinoma was initially treated with topical Imiquimod. PMID:21716555

  20. Citrus consumption and risk of basal cell carcinoma and squamous cell carcinoma of the skin.

    PubMed

    Wu, Shaowei; Cho, Eunyoung; Feskanich, Diane; Li, Wen-Qing; Sun, Qi; Han, Jiali; Qureshi, Abrar A

    2015-10-01

    Animal experiments have demonstrated the photocarcinogenic properties of furocoumarins, a group of naturally occurring chemicals that are rich in citrus products. We conducted a prospective study for citrus consumption and risk of basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) of the skin based on data from 41530 men in the Health Professionals Follow-up Study (1986-2010) and 63759 women in the Nurses' Health Study (1984-2010) who were free of cancers at baseline. Over 24-26 years of follow-up, we documented 20840 incident BCCs and 3544 incident SCCs. Compared to those who consumed citrus products less than twice per week, the pooled multivariable-adjusted hazard ratios were 1.03 [95% confidence interval (95% CI): 0.99-1.08] for BCC and 1.14 (95% CI: 1.00-1.30) for SCC for those who consumed two to four times per week, 1.06 (95% CI: 1.01-1.11) for BCC and 1.15 (95% CI: 1.02-1.28) for SCC for five to six times per week, 1.11 (95% CI: 1.06-1.16) for BCC and 1.22 (95% CI: 1.08-1.37) for SCC for once to 1.4 times per day and 1.16 (95% CI: 1.09-1.23) for BCC and 1.21 (95% Cl: 1.06-1.38) for SCC for 1.5 times per day or more (P trend = 0.001 for BCC and 0.04 for SCC). In contrast, consumption of non-citrus fruit and juice appeared to be inversely associated with risk of BCC and SCC. Our findings support positive associations between citrus consumption and risk of cutaneous BCC and SCC in two cohorts of men and women, and call for further investigations to better understand the potential photocarcinogenesis associated with dietary intakes. PMID:26224304

  1. Facial Basal Cell Carcinoma Treated with Topical 5% Imiquimod Cream with Dermoscopic Evaluation.

    PubMed

    Singal, Archana; Daulatabad, Deepashree; Pandhi, Deepika; Arora, V K

    2016-01-01

    Basal cell carcinoma (BCC) is the most common skin cancer worldwide. Surgical excision is considered to be the primary therapeutic modality wherever possible. For inoperable cases, 5% imiquimod seems to be a good alternative. We present two cases of nodular pigmented BCCs on the face in elderly women successfully treated with 5% imiquimod cream application resulting in complete clinical clearance of lesion as well as on histology and dermatoscopy. There was no recurrence of the lesion on 2 years follow-up for the first and 1.5 years for the second patient. PMID:27398014

  2. Facial Basal Cell Carcinoma Treated with Topical 5% Imiquimod Cream with Dermoscopic Evaluation

    PubMed Central

    Singal, Archana; Daulatabad, Deepashree; Pandhi, Deepika; Arora, VK

    2016-01-01

    Basal cell carcinoma (BCC) is the most common skin cancer worldwide. Surgical excision is considered to be the primary therapeutic modality wherever possible. For inoperable cases, 5% imiquimod seems to be a good alternative. We present two cases of nodular pigmented BCCs on the face in elderly women successfully treated with 5% imiquimod cream application resulting in complete clinical clearance of lesion as well as on histology and dermatoscopy. There was no recurrence of the lesion on 2 years follow-up for the first and 1.5 years for the second patient. PMID:27398014

  3. Analysis and diagnosis of basal cell carcinoma (BCC) via infrared imaging

    NASA Astrophysics Data System (ADS)

    Flores-Sahagun, J. H.; Vargas, J. V. C.; Mulinari-Brenner, F. A.

    2011-09-01

    In this work, a structured methodology is proposed and tested through infrared imaging temperature measurements of a healthy control group to establish expected normality ranges and of basal cell carcinoma patients (a type of skin cancer) previously diagnosed through biopsies of the affected regions. A method of conjugated gradients is proposed to compare measured dimensionless temperature difference values (Δ θ) between two symmetric regions of the patient's body, that takes into account the skin, the surrounding ambient and the individual core temperatures and doing so, the limitation of the results interpretation for different individuals become simple and nonsubjective. The range of normal temperatures in different regions of the body for seven healthy individuals was determined, and admitting that the human skin exhibits a unimodal normal distribution, the normal range for each region was considered to be the mean dimensionless temperature difference plus/minus twice the standard deviation of the measurements (Δθ±2σ) in order to represent 95% of the population. Eleven patients with previously diagnosed basal cell carcinoma through biopsies were examined with the method, which was capable of detecting skin abnormalities in all cases. Therefore, the conjugated gradients method was considered effective in the identification of the basal cell carcinoma through infrared imaging even with the use of a low optical resolution camera (160 × 120 pixels) and a thermal resolution of 0.1 °C. The method could also be used to scan a larger area around the lesion in order to detect the presence of other lesions still not perceptible in the clinical exam. However, it is necessary that a temperature differences mesh-like mapping of the healthy human body skin is produced, so that the comparison of the patient Δ θ could be made with the exact region of such mapping in order to possibly make a more effective diagnosis. Finally, the infrared image analyzed through the

  4. Profile of vismodegib and its potential in the treatment of advanced basal cell carcinoma.

    PubMed

    Macha, Muzafar A; Batra, Surinder K; Ganti, Apar Kishor

    2013-01-01

    Basal cell carcinoma (BCC) is the most common human malignancy. Recent advances in our understanding of the critical biologic pathways implicated in the development and progression of BCC have led to the development of the first molecular targeted therapy for this disease. The hedgehog pathway is mutated in virtually all patients with BCC and recent trials with vismodegib, an inhibitor of this pathway, have shown significant responses. This review will discuss the importance of the hedgehog pathway in the pathogenesis of BCC and describe in detail the pharmacology of vismodegib in relation to its activity in advanced BCC. PMID:23940421

  5. A colonization of basal cell carcinoma by malignant melanoma in situ resembling a malignant basomelanocytic tumor.

    PubMed

    Goeser, Megan; DiMaio, Dominick J

    2014-11-01

    We report a case of colonization of basal cell carcinoma (BCC) by malignant melanoma in situ (MIS) simulating a malignant basomelanocytic tumor. A biopsy of a pigmented lesion present on an 83-year-old man's scalp displayed intimate admixing of basaloid and melanocytic cells. This seemingly inseparable combination of BCC and neoplastic melanocytes has been referred to as a malignant basomelanocytic tumor. However, our case also displays an adjacent component of MIS, thus favoring colonization of BCC by MIS as the etiology. To our knowledge, this is the third case report of colonization of BCC by MIS resembling a malignant basomelanocytic tumor. PMID:24752214

  6. A Case of Orbital Myiasis in Recurrent Eyelid Basal Cell Carcinoma Invasive into the Orbit.

    PubMed

    Pandey, Triptesh Raj; Shrestha, Gulshan Bahadur; Sitaula, Ranju Kharel; Shah, Dev Narayan

    2016-01-01

    Introduction. Orbital myiasis is the infestation of the orbital tissues by fly larvae or maggots. Compromise of periorbital tissues by malignant disease, surgery, ischemia, or infection may predispose the patient to orbital myiasis. Case Report. A 73-year-old male patient with neglected recurrent basal cell carcinoma of the eyelid invasive into the orbit presented with complaints of intense itching and crawling sensation with maggots wriggling and falling from the wound of left orbit. The patient improved following manual removal of the maggots along with oral Ivermectin treatment. Recurrence of the basal cell carcinoma was confirmed by punch biopsy from the wound and extended exenteration of the orbit followed by reconstructive surgery was done. Conclusion. Orbital myiasis is a rare and preventable ocular morbidity that can complicate the malignancies resulting in widespread tissue destruction. The broad spectrum antiparasitic agent, Ivermectin, can be used as noninvasive means to treat orbital myiasis. In massive orbital myiasis and those associated with malignancies, exenteration of the orbit must be seriously considered. PMID:27595028

  7. Reconstructive rhinoplasty in cases with basal cell carcinoma of the nose.

    PubMed

    Anghel, I; Anghel, A G

    2012-01-01

    Basal cell Carcinoma (BCC) is the most common type of skin cancer, 85% of BCC are located in the head and neck area, of which 30% on the nose. The author present a retrospective study, own experience in surgical treatment in 31 cases with basal cell carcinoma of the nose operated in the period 2005-2011. The age of patients was between 50 to 90 years old. The anatomical site of the nose the most frecvently involved was ala 58%, and followed of the nasal tip 18%, lateral nose wall 12%, dorsum 9% and 3% basalioma terebrans. In all of the cases in this study it was performed the repair of the skin tumour defects of the nose, using varied local skin flaps, septal graft and auricle cartilage free grafts a ndcomposite (skin + cartilage) of conchal and helical rim. Treatment methods were depend on the tumor localization and extension. The best treatment option in BCC of the nose was radical surgical excision whith safety margin of the tumour, followed of reconstructive rhinoplasty. PMID:22844837

  8. Basal cell carcinoma of the eyelids and solar ultraviolet radiation exposure

    PubMed Central

    Lindgren, G.; Diffey, B.; Larko, O.

    1998-01-01

    AIMS—To compare the distribution of eyelid basal cell carcinoma (BCC) with the relative ultraviolet radiation (UVR) exposure to different sites on the eyelids.
METHODS—The location of BCC on the eyelids was allocated to one of seven regions. The UVR exposure was recorded with a polymer film attached to the eyelids at seven sites in a manikin and in human subjects.
RESULTS—Localisation of the 329 tumours was mainly on the lower eyelids (225 tumours), and the medial canthal regions (87 tumours). There was no association between UVR doses at the seven sites of the eyelids and the location of BCCs. The UVR exposure was similar on the upper and lower eyelids, while the number of tumours on the lower eyelids outnumbered the upper lids by a factor of 13 (17 upper, 225 lower)
CONCLUSION—UVR exposure only partially explains the aetiology of periorbital BCC.

 Keywords: polysulphone film; basal cell carcinoma; ultraviolet radiation; eyelid PMID:9930273

  9. A Case of Orbital Myiasis in Recurrent Eyelid Basal Cell Carcinoma Invasive into the Orbit

    PubMed Central

    Shrestha, Gulshan Bahadur; (Sitaula), Ranju Kharel; Shah, Dev Narayan

    2016-01-01

    Introduction. Orbital myiasis is the infestation of the orbital tissues by fly larvae or maggots. Compromise of periorbital tissues by malignant disease, surgery, ischemia, or infection may predispose the patient to orbital myiasis. Case Report. A 73-year-old male patient with neglected recurrent basal cell carcinoma of the eyelid invasive into the orbit presented with complaints of intense itching and crawling sensation with maggots wriggling and falling from the wound of left orbit. The patient improved following manual removal of the maggots along with oral Ivermectin treatment. Recurrence of the basal cell carcinoma was confirmed by punch biopsy from the wound and extended exenteration of the orbit followed by reconstructive surgery was done. Conclusion. Orbital myiasis is a rare and preventable ocular morbidity that can complicate the malignancies resulting in widespread tissue destruction. The broad spectrum antiparasitic agent, Ivermectin, can be used as noninvasive means to treat orbital myiasis. In massive orbital myiasis and those associated with malignancies, exenteration of the orbit must be seriously considered. PMID:27595028

  10. Detection of Basal Cell Carcinoma Using Color and Histogram Measures of Semitranslucent Areas

    PubMed Central

    Stoecker, William V.; Gupta, Kapil; Shrestha, Bijaya; Wronkiewiecz, Mark; Chowdhury, Raeed; Stanley, R. Joe; Xu, Jin; Moss, Randy H.; Celebi, M. Emre; Rabinovitz, Harold S.; Oliviero, Margaret; Malters, Joseph M.; Kolm, Isabel

    2009-01-01

    Background Semitranslucency, defined as a smooth, jelly-like area with varied, near-skin-tone color, can indicate a diagnosis of basal cell carcinoma (BCC) with high specificity. This study sought to analyze potential areas of semitranslucency with histogram-derived texture and color measures to discriminate BCC from non-semitranslucent areas in non-BCC skin lesions. Methods For 210 dermoscopy images, the areas of semitranslucency in 42 BCCs and comparable areas of smoothness and color in 168 non-BCCs were selected manually. Six color measures and six texture measures were applied to the semitranslucent areas of the BCC and the comparable areas in the non-BCC images. Results Receiver operating characteristic (ROC) curve analysis showed that the texture measures alone provided greater separation of BCC from non-BCC than the color measures alone. Statistical analysis showed that the four most important measures of semitranslucency are three histogram measures: contrast, smoothness, and entropy, and one color measure: blue chromaticity. Smoothness is the single most important measure. The combined 12 measures achieved a diagnostic accuracy of 95.05% based on area under the ROC curve. Conclusion Texture and color analysis measures, especially smoothness, may afford automatic detection of basal cell carcinoma images with semitranslucency. PMID:19624424

  11. Hybrid image representation learning model with invariant features for basal cell carcinoma detection

    NASA Astrophysics Data System (ADS)

    Arevalo, John; Cruz-Roa, Angel; González, Fabio A.

    2013-11-01

    This paper presents a novel method for basal-cell carcinoma detection, which combines state-of-the-art methods for unsupervised feature learning (UFL) and bag of features (BOF) representation. BOF, which is a form of representation learning, has shown a good performance in automatic histopathology image classi cation. In BOF, patches are usually represented using descriptors such as SIFT and DCT. We propose to use UFL to learn the patch representation itself. This is accomplished by applying a topographic UFL method (T-RICA), which automatically learns visual invariance properties of color, scale and rotation from an image collection. These learned features also reveals these visual properties associated to cancerous and healthy tissues and improves carcinoma detection results by 7% with respect to traditional autoencoders, and 6% with respect to standard DCT representations obtaining in average 92% in terms of F-score and 93% of balanced accuracy.

  12. Comparison between mALA- and ALA-PDT in the treatment of basal cell carcinomas

    NASA Astrophysics Data System (ADS)

    Schleier, Peter; Zenk, Witold; Hyckel, Peter; Berndt, Alexander

    2006-02-01

    Introduction: The external application of aminoleavulinic acid (ALA), which is a substrate of physiologic cell metabolism, represents a possible treatment option in superficial basal cell carcinomas (BCC). The development of new ALA-esters (mALA) with potential for higher penetration depths promises higher therapeutic success. This research aimed to prove the following hypothesis: The cytotoxic effect of the mALA- photodynamic therapy (mALA-PDT), when compared to the ALA-PDT, leads to a higher clinical success rate. Material and Methods: 24 patients with multiple facial tumors, after having received several local surgical excisions with known histology, were treated with either ALA- or mALA-PDT, during the past two years. In total, 89 basal cell carcinoma, 45 actinic keratoses, 6 keratoacanthoma, and 2 squamous cell carcinomas were treated. ALA-PDT: A thermo gel with 40 % mALA or ALA was applied from a cooled syringe. Three to five hours after gel application the skin was cleaned from any gel residues. Irradiation was done with a diode laser and was performed in two sessions, each 10 min long. After intervals of 2, 4 and 12 weeks, the patients were recalled to assess therapeutic efficacy. This was followed by photographic documentation. Results: More than 80% of the tumors treated primarily were resolved successfully. A recurrence rate of approximately 15% was observed. Three per cent of the tumors showed no reaction to therapy. There were no statistically significant differences between the two therapeutic groups. Discussion: The advantage of the use of ALA lies foremost in the fast metabolic use of the body's own photosensitizer PpIX. There are no known side effects of this therapy. Moreover, external application is superior to systemic application with regard to patient management. The method can be combined with other therapies. Although the mALA should have a better penetration in tumor tissue, the therapeutic outcome is similar to the use of ALA.

  13. Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice.

    PubMed

    Davari, Parastoo; Hebert, Jennifer L; Albertson, Donna G; Huey, Bing; Roy, Ritu; Mancianti, Maria L; Horvai, Andrew E; McDaniel, Lisa D; Schultz, Roger A; Epstein, Ervin H

    2010-06-01

    Basal cell carcinomas (BCCs) have relative genomic stability and relatively benign clinical behavior but whether these two are related causally is unknown. To investigate the effects of introducing genomic instability into murine BCCs, we have compared ionizing radiation-induced tumorigenesis in Ptch1(+/-) mice versus that in Ptch1(+/-) mice carrying mutant Blm alleles. We found that BCCs in Ptch1(+/-) Blm(tm3Brd/tm3Brd) mice had a trend toward greater genomic instability as measured by array comprehensive genomic hybridization and that these mice developed significantly more microscopic BCCs than did Ptch1(+/-) Blm(+/tm3Brd) or Ptch1(+/-) Blm(+/+) mice. The mutant Blm alleles also markedly enhanced the formation of rhabdomyosarcomas (RMSs), another cancer to which Ptch1(+/)(-) mice and PTCH1(+/)(-) (basal cell nevus syndrome) patients are susceptible. Highly recurrent but different copy number changes were associated with the two tumor types and included losses of chromosomes 4 and 10 in all BCCs and gain of chromosome 10 in 80% of RMSs. Loss of chromosome 11 and 13, including the Trp53 and Ptch1 loci, respectively, occurred frequently in BCCs, suggesting tissue-specific selection for genes or pathways that collaborate with Ptch deficiency in tumorigenesis. Despite the quantitative differences, there was no dramatic qualititative difference in the BCC or RMS tumors associated with the mutant Blm genotype. PMID:19995795

  14. Multiple metastatic basal cell carcinoma with concurrent metastatic pleomorphic sarcoma in chronic lymphedema area--case report.

    PubMed

    Oliveira, Giuliano da Paz; Girão, Régio José Santiago; Soares, Cléverson Teixeira; Mello Junior, Edgard Jose Franco

    2012-01-01

    Chronic lymphedema presents as interstitial fluid retention due to a failure in the lymphatic system drainage. The affected region becomes more vulnerable immunologically and predisposed to the onset of neoplasms. Basal Cell Carcinoma is the most common sort of neoplasm, nevertheless it rarely metastisizes. Sarcomas are malignant mesenchymal neoplasms, locally aggressive, which can spread. Here is reported an infrequent case of multiple basal cell carcinoma, synchronous to a poorly differentiated pleomorphic sarcoma, both spreading to lymph nodes and arising from tissue compromised by chronic lymphedema. PMID:23197211

  15. Nodulocystic Basal Cell Carcinoma Arising Directly from a Seborrheic Keratosis: A Rare Case Report

    PubMed Central

    Shibao, Kana; Okiyama, Naoko; Tanaka, Ryota; Maruyama, Hitoshi; Fujisawa, Yasuhiro; Fujimoto, Manabu

    2016-01-01

    Seborrheic keratoses (SKs) are common epidermal tumors composed of benign keratinocytes. Malignant skin tumors including basal cell carcinoma (BCC) rarely arise within SKs. We report a rare case of an 82-year-old man with nodulocystic BCC that appeared at the center of a scaly hyperpigmented SK that had been presented for more than 10 years. It was histologically confirmed that CK19-positive BCC arose directly from the wall of the pseudohorn cyst, a part of the SK. Nodular and/or cystic BCC also rarely arise within SKs while the most common histologic type of BCC within SKs is the superficial type. Careful observation of SKs is important even though it is rarely a background condition for malignant transformation. PMID:27512194

  16. Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

    PubMed Central

    Stacey, Simon N.; Sulem, Patrick; Gudbjartsson, Daniel F.; Jonasdottir, Aslaug; Thorleifsson, Gudmar; Gudjonsson, Sigurjon A.; Masson, Gisli; Gudmundsson, Julius; Sigurgeirsson, Bardur; Benediktsdottir, Kristrun R.; Thorisdottir, Kristin; Ragnarsson, Rafn; Fuentelsaz, Victoria; Corredera, Cristina; Grasa, Matilde; Planelles, Dolores; Sanmartin, Onofre; Rudnai, Peter; Gurzau, Eugene; Koppova, Kvetoslava; Hemminki, Kari; Nexø, Bjørn A; Tjønneland, Anne; Overvad, Kim; Johannsdottir, Hrefna; Helgadottir, Hafdis T.; Thorsteinsdottir, Unnur; Kong, Augustine; Vogel, Ulla; Kumar, Rajiv; Nagore, Eduardo; Mayordomo, José I.; Rafnar, Thorunn; Olafsson, Jon H.; Stefansson, Kari

    2014-01-01

    To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide association study of 38.5 million single nucleotide polymorphisms (SNPs) and small indels identified through whole-genome sequencing of 2230 Icelanders. We imputed genotypes for 4208 BCC patients and 109 408 controls using Illumina SNP chip typing data, carried out association tests and replicated the findings in independent population samples. We found new BCC susceptibility loci at TGM3 (rs214782[G], P = 5.5 × 10−17, OR = 1.29) and RGS22 (rs7006527[C], P = 8.7 × 10−13, OR = 0.77). TGM3 encodes transglutaminase type 3, which plays a key role in production of the cornified envelope during epidermal differentiation. PMID:24403052

  17. Multiple facial basal cell carcinomas in xeroderma pigmentosum treated with topical imiquimod 5% cream.

    PubMed

    Yang, Jian-Qiang; Chen, Xian-Yu; Engle, Michelle Yixiao; Wang, Jian-You

    2015-01-01

    Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by solar sensitivity, photophobia, early onset of freckling, and solar-induced cutaneous neoplastic changes. Management of patients with XP is a therapeutic challenge as they usually develop multiple cutaneous malignancies, making surgical therapy difficult, and continue to form skin malignancies at a high rate. We describe a 30-year-old Chinese man with XP who had been previously treated with excision and dermatoplasty. Upon recurrence of multiple superficial, ulcerative, and pigmented lesions, imiquimod 5% cream was recommended for 4 months. His multiple facial lesions demonstrated an excellent response to topical imiquimod 5% cream with minor side effects. This favorable response indicates that topical application of imiquimod 5% cream is an effective means of treating multiple basal cell carcinomas in XP. PMID:25754701

  18. Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma

    PubMed Central

    Chahal, Harvind S.; Wu, Wenting; Ransohoff, Katherine J.; Yang, Lingyao; Hedlin, Haley; Desai, Manisha; Lin, Yuan; Dai, Hong-Ji; Qureshi, Abrar A.; Li, Wen-Qing; Kraft, Peter; Hinds, David A.; Tang, Jean Y.; Han, Jiali; Sarin, Kavita Y.

    2016-01-01

    Basal cell carcinoma (BCC) is the most common cancer worldwide with an annual incidence of 2.8 million cases in the United States alone. Previous studies have demonstrated an association between 21 distinct genetic loci and BCC risk. Here, we report the results of a two-stage genome-wide association study of BCC, totalling 17,187 cases and 287,054 controls. We confirm 17 previously reported loci and identify 14 new susceptibility loci reaching genome-wide significance (P<5 × 10−8, logistic regression). These newly associated SNPs lie within predicted keratinocyte regulatory elements and in expression quantitative trait loci; furthermore, we identify candidate genes and non-coding RNAs involved in telomere maintenance, immune regulation and tumour progression, providing deeper insight into the pathogenesis of BCC. PMID:27539887

  19. The first experience in estimation of basal cell carcinoma cryoresistence using noninvasive spectrophotometry

    NASA Astrophysics Data System (ADS)

    Andrukhina, V. V.; Litvinova, K. S.; Nikitin, A. A.; Spiridonova, N. Z.; Rogatkin, D. A.

    2010-02-01

    The urgency of BCC study affecting maxillofacial area and neck is not only caused by high prevalence of this disease, but also insufficient efficiency of existing treatment methods which lead to full or partial recovery only in 60-80% of cases. We analyzed the results of 198 BCC cases cryosurgical treatment. 33 (16,6%) patients showed continued tumor growth. It has been hypothesized that the behavior and character of microcirculation changes during patient's testing have to correlate with damaging rate of tumors that will allow to develop indications for surgical treatment with local destruction - cryosurgery or cryolaser treatment. We have tested the new group of 33 patients with primary and recurrence types of basal cell carcinoma (BCC) by means of Laser Doppler Flowmetry, Tissues Reflectance Oximetry, Laser Fluorescence Diagnostics before operation. It was shown that the microcirculatory data indicates the presence of cryoresistance.

  20. The first experience in estimation of basal cell carcinoma cryoresistence using noninvasive spectrophotometry

    NASA Astrophysics Data System (ADS)

    Andrukhina, V. V.; Litvinova, K. S.; Nikitin, A. A.; Spiridonova, N. Z.; Rogatkin, D. A.

    2009-10-01

    The urgency of BCC study affecting maxillofacial area and neck is not only caused by high prevalence of this disease, but also insufficient efficiency of existing treatment methods which lead to full or partial recovery only in 60-80% of cases. We analyzed the results of 198 BCC cases cryosurgical treatment. 33 (16,6%) patients showed continued tumor growth. It has been hypothesized that the behavior and character of microcirculation changes during patient's testing have to correlate with damaging rate of tumors that will allow to develop indications for surgical treatment with local destruction - cryosurgery or cryolaser treatment. We have tested the new group of 33 patients with primary and recurrence types of basal cell carcinoma (BCC) by means of Laser Doppler Flowmetry, Tissues Reflectance Oximetry, Laser Fluorescence Diagnostics before operation. It was shown that the microcirculatory data indicates the presence of cryoresistance.

  1. Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

    PubMed

    Chahal, Harvind S; Wu, Wenting; Ransohoff, Katherine J; Yang, Lingyao; Hedlin, Haley; Desai, Manisha; Lin, Yuan; Dai, Hong-Ji; Qureshi, Abrar A; Li, Wen-Qing; Kraft, Peter; Hinds, David A; Tang, Jean Y; Han, Jiali; Sarin, Kavita Y

    2016-01-01

    Basal cell carcinoma (BCC) is the most common cancer worldwide with an annual incidence of 2.8 million cases in the United States alone. Previous studies have demonstrated an association between 21 distinct genetic loci and BCC risk. Here, we report the results of a two-stage genome-wide association study of BCC, totalling 17,187 cases and 287,054 controls. We confirm 17 previously reported loci and identify 14 new susceptibility loci reaching genome-wide significance (P<5 × 10(-8), logistic regression). These newly associated SNPs lie within predicted keratinocyte regulatory elements and in expression quantitative trait loci; furthermore, we identify candidate genes and non-coding RNAs involved in telomere maintenance, immune regulation and tumour progression, providing deeper insight into the pathogenesis of BCC. PMID:27539887

  2. Cutaneous basal cell carcinoma arising within a keloid scar: a case report.

    PubMed

    Goder, Maya; Kornhaber, Rachel; Bordoni, Daniele; Winkler, Eyal; Haik, Josef; Tessone, Ariel

    2016-01-01

    Basal cell carcinomas (BCCs) are one of the most frequent cutaneous malignancies. The majority of BCCs are reported to occur on the auricular helix and periauricular region due to ultraviolet light exposure. Despite the frequency of BCCs, those that develop within scar tissue are rare, and the phenomenon of keloid BCCs has rarely been reported in the literature. Keloid collagen within BCCs is associated with morphoeiform characteristics, ulceration, or necrosis. Extensive keloid collagen is often seen in BCCs of the ear region, a site prone to keloid scarring. This article presents a rare case of a secondary tumor (BCC) which arose on top of a primary tumor (keloid scar) on the right auricle region in a healthy 23-year-old female after an ear piercing 2 years prior. To our knowledge, the tumor described in this case, in contrast to keloidal BCCs, has never been reported in the literature. PMID:27536142

  3. Cutaneous basal cell carcinoma arising within a keloid scar: a case report

    PubMed Central

    Goder, Maya; Kornhaber, Rachel; Bordoni, Daniele; Winkler, Eyal; Haik, Josef; Tessone, Ariel

    2016-01-01

    Basal cell carcinomas (BCCs) are one of the most frequent cutaneous malignancies. The majority of BCCs are reported to occur on the auricular helix and periauricular region due to ultraviolet light exposure. Despite the frequency of BCCs, those that develop within scar tissue are rare, and the phenomenon of keloid BCCs has rarely been reported in the literature. Keloid collagen within BCCs is associated with morphoeiform characteristics, ulceration, or necrosis. Extensive keloid collagen is often seen in BCCs of the ear region, a site prone to keloid scarring. This article presents a rare case of a secondary tumor (BCC) which arose on top of a primary tumor (keloid scar) on the right auricle region in a healthy 23-year-old female after an ear piercing 2 years prior. To our knowledge, the tumor described in this case, in contrast to keloidal BCCs, has never been reported in the literature. PMID:27536142

  4. Advanced Basal cell carcinoma in a patient with schizoaffective disorder: constraints and management.

    PubMed

    Taylor, Elise J; Golas, Liliya; Martel, Joseph R; Martel, James B

    2013-01-01

    The approach used by the authors for managing a patient with a schizoaffective disorder and advanced basal cell carcinoma involving the eyelids, orbit, and face is presented. Complexities included the advanced nature of the disease, neglect of the patient's condition due to schizoaffective disorder, the difficulty of obtaining informed consent, the required aggressive surgical intervention, reconstruction, and the necessary management during the postsurgical period. A multidisciplinary team approach with psychiatry, ophthalmology, ear, nose, and throat, plastic surgery, radiation oncology, oncology, legal, and bioethics specialties is required in patients with cognitive disabilities. Curative treatment requires complete excision, reconstruction, and proper postoperative care, which can be prohibitive in a schizophrenic patient from a surgical and ethical perspective. Staging of this condition after proper informed consent with biopsy, computed tomography, and magnetic resonance imaging is presented. The options for management are discussed, including surgical intervention and palliative care. PMID:23235512

  5. Basal cell carcinoma: clues to its presence in histologic sections when the initial slide is nondiagnostic.

    PubMed

    Haupt, H M; Stern, J B; Dilaimy, M S

    2000-09-01

    Initial sections of skin biopsies may not be diagnostic of basal cell carcinoma (BCC). Are there histologic predictors of BCC that should prompt deeper sections? Ninety-four cases in which the clinical diagnosis was BCC or "rule-out BCC," and the initial histologic slides were nondiagnostic, were submitted for deeper sections on three additional slides. Of the 94 cases, 50 (53%) demonstrated BCC on deeper sections. This relatively high incidence suggests that deeper sections should be taken in all cases of clinically suspected BCCs unless alternate histologic findings adequately account for the clinical lesion. The results of this study suggest that additional sections are more likely to yield BCC when the initial nondiagnostic slide demonstrates focal epidermal atypia, equivocal adnexae, stromal fibrosis, empty dermal space, and microcalcifications, criteria which may be useful in determining the need to do deeper sections in cases in which BCC is not clinically suspected. PMID:10976705

  6. Basal cell nevus syndrome: clinical and molecular review and case report.

    PubMed

    Pino, Livia Cristina de Melo; Balassiano, Laila Klotz de Almeida; Sessim, Marlene; de Almeida, Ana Paula Moura; Empinotti, Vinicius Dequech; Semenovitch, Ivan; Treu, Curt; Lupi, Omar

    2016-04-01

    Basal cell nevus syndrome (BCNS), also referred to as nevoid basal cell carcinoma syndrome or Gorlin-Goltz syndrome, was first described by Gorlin and Goltz in 1960 as an autosomal dominant disorder characterized by the early appearance of multiple basal cell carcinomas (BCCs), keratocysts of the jaw, ectopic calcifications, palmar and plantar pits, and anomalies of the ocular, skeletal, and reproductive systems. The genesis of this cancer's etiology in relation to BCNS was unclear until a few years ago when molecular analysis studies suggested a relationship between BCC and the loss-of-function mutations of the patched gene (PTCH) found on chromosome arm 9q. PTCH inhibits signaling by the membrane protein Smoothened (Smo), and this inhibition is relieved by binding sonic hedgehog (SHH) to PTCH. We describe a patient with multiple BCCs associated with x-ray anomalies of BCNS and review the basis of the SHH signaling pathway and clinical aspects of BCNS. PMID:26356331

  7. Usefulness of (18)F-FDG PET/CT in recurrent basal cell carcinoma: Report of a case.

    PubMed

    Ayala, S; Perlaza, P; Puig, S; Prats, E; Vidal-Sicart, S

    2016-01-01

    We analyze the case of a patient with left periorbital infiltrating basal cell carcinoma treated with surgical excision in October 2010. Surgery included orbital exenteration and reconstruction using skin graft and radiotherapy. In May 2013 a MR imaging showed a mass in the left orbital fossa, suggesting a recurrence in the graft. A basal cell carcinoma recurrence with perineural invasion was confirmed in the biopsy. On (18)F-FDG PET/CT performed, a hypermetabolic activity was observed in the left periorbital area with extension to surrounding sinus and bones. The use of (18)F-FDG PET/CT in patients with advanced basal cell carcinoma has not been fully explored due to the rarity of this entity. This case demonstrates the usefulness of this technique to determine the extent of non-melanocytic recurrent skin tumors, and its value in the staging and treatment control, supporting the incorporation of (18)F-FDG PET/CT in the management of advanced basal cell carcinoma. PMID:26522004

  8. Molecular classification of basal cell carcinoma of skin by gene expression profiling.

    PubMed

    Jee, Byul A; Lim, Hyoseob; Kwon, So Mee; Jo, Yuna; Park, Myong Chul; Lee, Il Jae; Woo, Hyun Goo

    2015-12-01

    Non-melanoma skin cancers (NMSC) including basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are more common kinds of skin cancer. Although these tumors share common pathological and clinical features, their similarity and heterogeneity at molecular levels are not fully elaborated yet. Here, by performing comparative analysis of gene expression profiling of BCC, SCC, and normal skin tissues, we could classify the BCC into three subtypes of classical, SCC-like, and normal-like BCCs. Functional enrichment and pathway analyses revealed the molecular characteristics of each subtype. The classical BCC showed the enriched expression and transcription signature with the activation of Wnt and Hedgehog signaling pathways, which were well known key features of BCC. By contrast, the SCC-like BCC was enriched with immune-response genes and oxidative stress-related genes. Network analysis revealed the PLAU/PLAUR as a key regulator of SCC-like BCC. The normal-like BCC showed prominent activation of metabolic processes particularly the fatty acid metabolism. The existence of these molecular subtypes could be validated in an independent dataset, which demonstrated the three subgroups of BCC with distinct functional enrichment. In conclusion, we suggest a novel molecular classification of BCC providing insights on the heterogeneous progression of BCC. PMID:25328065

  9. Excision of periocular basal cell carcinoma guided by en face frozen section.

    PubMed

    Tullett, Mark; Sagili, Suresh; Barrett, Andrew; Malhotra, Raman

    2013-09-01

    We describe a technique for monitoring excision margins in periocular basal cell carcinoma (BCC) using en face frozen sections and report outcomes. We excised periocular BCC with 3mm margins. An outer 1mm sliver of the perimeter of the specimen was mapped and sent for evaluation by en face frozen section. The central tumour mass was processed using routine paraffin sections. A further 3mm level was excised at the site of any affected margin and the outer 1mm sliver was again evaluated by frozen section. We identified 78 patients from November 2003 to July 2009; 67 had primary tumours and 11 (14%) had recurrent BCC of which 52 (66%) were located on the lower eyelid. Growth patterns were nodular (n=34, 43%), infiltrative (n=25, 32%), micronodular (n=12, 16%), and superficial (n=7, 9%). A third of BCC with a clinically nodular appearance showed additional histological patterns including infiltrative and micronodular growth patterns. Of 30 clinically nodular carcinomas, 29 were excised completely with one level, and one required 2 levels of excision for clearance after evaluation by frozen section. Mean follow-up was 23 months (range 2-60). There was one recurrence (1%). Excision of margins guided by en face frozen section is justified by the low rates of recurrence, and it can easily be taught or imported into hospital practice. Clinically nodular BCC have subclinical extensions that can be missed on bread loaf sectioning, which makes the sampling of margins a standard for periocular BCC. PMID:23219018

  10. Basal cell cancer (image)

    MedlinePlus

    ... is needed to prove the diagnosis of basal cell carcinoma. Treatment varies depending on the size, depth, and location of the cancer. Early treatment by a dermatologist may result in a cure rate of more than 95%, but regular examination ...

  11. Germline BAP1 mutations predispose also to multiple basal cell carcinomas.

    PubMed

    de la Fouchardière, A; Cabaret, O; Savin, L; Combemale, P; Schvartz, H; Penet, C; Bonadona, V; Soufir, N; Bressac-de Paillerets, B

    2015-09-01

    The BRCA1-associated protein 1 (BAP1) gene encodes a nuclear deubiquitin enzyme which acts as a tumour suppressor. Loss of function germline mutations of BAP1 have been associated with an enhanced risk of uveal and cutaneous melanomas, mesothelioma, clear cell renal cancer and atypical cutaneous melanocytic proliferations. In two independent BAP1 families, we noticed an unusual frequency of basal cell carcinomas (BCCs). Indeed, 19 BCCs were diagnosed in four patients, either of superficial (13/19) or nodular (6/19) subtype; they were all located in chronic sun-exposed areas (limbs, head or neck). Immunohistochemistry (IHC) identified in the 19 tumours, complete or partial loss of BAP1 protein nuclear expression, restricted to the BCC nests. A control study was conducted in 22 sporadic BCCs in 22 subjects under 65 without known associated BAP1 tumours: no loss of BAP1 expression was found. Overall, our observations suggest that BCCs are part of the BAP1 cancer syndrome, perhaps in relation with chronic sun exposure and melanocortin 1 receptor (MC1R) variants. In conclusion, cutaneous follow-up of BAP1 carriers should not only aim to detect melanocytic neoplasms but also BCCs. PMID:25080371

  12. Different Anatomical Distribution of Basal Cell Carcinoma Subtypes in Iranian Population: Association between Site and Subtype

    PubMed Central

    Ghanadan, Alireza; Abdollahi, Pejman; Rabet, Mehrshad; Naraghi, Zahra; Abbasi, Mohammad Amin; Moslehi, Homayun

    2014-01-01

    Background Basal cell carcinoma (BCC) is the most common type of human cancer. Despite the high prevalence of these tumors, there is a lack of reliable epidemiological data in some regions including Iran. Objective To assess the relationship between BCC subtypes and anatomical distribution in the Iranian population. Methods There were 876 patients with a single BCC enrolled in this study (March 2007 to March 2010; Razi Dermatology Center, Tehran, Iran). Results Among 876 patients, 544 were males and 332 females. Of the lesions, 43% were nodular, 32.4% mixed type, 3% superficial and rest of other subtypes. In the lesion location, 58.2% were on the face, 29.2% on scalp, 6.2% on ears, 2.3% on neck, 1.7% on trunk and 1.3% on the extremities. There was no significant difference between male and female in the BCC subtypes, but anatomical distribution of the tumor was different (p=0.002). Most of the trunk-arising BCCs were superficial, and most of the facial BCCs were nodular subtype. Also, most of the BCC subtypes occurred in patients between 40 to 80 years old and mostly on the face and scalp (p=0.04). However, superficial BCCs mostly occurred in younger patients over others (p=0.001). Conclusion Subtype is associated with a site, independent of gender or age. Also BCCs occurring on the trunk are mostly of the superficial subtype. PMID:25324646

  13. Automatic detection of basal cell carcinoma using telangiectasia analysis in dermoscopy skin lesion images

    PubMed Central

    Cheng, Beibei; Erdos, David; Stanley, Ronald J.; Stoecker, William V.; Calcara, David A.; Gómez, David D.

    2011-01-01

    Background Telangiectasia, dilated blood vessels near the surface of the skin of small, varying diameter, are critical dermoscopy structures used in the detection of basal cell carcinoma (BCC). Distinguishing these vessels from other telangiectasia, that are commonly found in sun-damaged skin, is challenging. Methods Image analysis techniques are investigated to find vessels structures found in BCC automatically. The primary screen for vessels uses an optimized local color drop technique. A noise filter is developed to eliminate false-positive structures, primarily bubbles, hair, and blotch and ulcer edges. From the telangiectasia mask containing candidate vessel-like structures, shape, size and normalized count features are computed to facilitate the discrimination of benign skin lesions from BCCs with telangiectasia. Results Experimental results yielded a diagnostic accuracy as high as 96.7% using a neural network classifier for a data set of 59 BCCs and 152 benign lesions for skin lesion discrimination based on features computed from the telangiectasia masks. Conclusion In current clinical practice, it is possible to find smaller BCCs by dermoscopy than by clinical inspection. Although almost all of these small BCCs have telangiectasia, they can be short and thin. Normalization of lengths and areas helps to detect these smaller BCCs. PMID:23815446

  14. Patient Preferences for Treatment of Basal Cell Carcinoma: Importance of Cure and Cosmetic Outcome.

    PubMed

    Martin, Isabelle; Schaarschmidt, Marthe-Lisa; Glocker, Anne; Herr, Raphael; Schmieder, Astrid; Goerdt, Sergij; Peitsch, Wiebke K

    2016-03-01

    Treatment options for localized resectable basal cell carcinoma (BCC) include micrographically controlled surgery, simple excision, curettage, laser ablation, cryosurgery, imiquimod, 5-fluorouracil, photodynamic therapy and radiotherapy. The aim of this study was to assess the preferences of patients with BCC for outcome (cure and recurrence rate, cosmetic outcome, risk of temporary and permanent complications) and process attributes (type of therapy, treatment location, anaesthesia, method of wound closure, duration of wound healing, out-of-pocket costs) of these treatments with conjoint analysis. Participants (n = 124) attached greatest importance to recurrence rate (relative importance score (RIS) = 17.28), followed by cosmetic outcome (RIS = 16.90) and cure rate (RIS = 15.02). Participants with BCC on the head or neck were particularly interested in cosmetic outcome. Those with a recurrence were willing to trade risk of recurrence, treatment location and duration of wound healing for a better cosmetic result. In summary, participants particularly valued cure and cosmetic outcome, although preferences varied with individual and tumour-associated characteristics. PMID:26537095

  15. The Importance of Cytokeratin 19 Expression in the Differentiation of Basal Cell Carcinoma and Trichoepithelioma

    PubMed Central

    Sehitoglu, Ibrahim; Yurdakul, Cüneyt; Saygin, Ismail; Üstüner, Pelin; Dilek, Nursel

    2015-01-01

    Introduction: Basal cell carcinoma (BCC) is the most common skin neoplasm reported in human. On the other hand, trichoepithelioma (TE) is a rare, benign tumour of skin adnexa. The differentiation of BCC and TE may be difficult since their morphological findings are similar. In a few studies, it has been determined that undifferentiated basaloid cells are highly positively stained with cytokeratin 19. Aim: The aim of this study was the comparison of cytokeratin 19 expression in cases of BCC and TE. Materials and Methods: Sections of skin tissues of 17 TE, 25 BCC and 12 non-neoplastic cases were used for cytokeratin 19 (CK19) immunohistochemical staining. Results: Staining with CK19 of the BCC cases gave 15(60%) diffuse, 7 (28%) focal and 3 (12%) negative staining. On the other hand, among TE cases, 2 (12%) gave diffuse, 5 (29%) focal and 10 (59%) negative staining with CK19. In the non-neoplastic skin tissue samples, while positive staining with cytokeratin 19 in the outer root sheath of hair follicles and sweat glands were observed, there was no staining in basal layers. Conclusion: CK19 expression may be helpful in the differential diagnosis of BCC and TE especially in small skin biopsy samples in which morphologic differentiation is difficult. PMID:25737992

  16. Secondary Involvement of the Mandible due to Basal Cell Carcinoma: A Case Report

    PubMed Central

    Mosannen Mozaffary, Pegah; Delavarian, Zahra; Amirchaghmaghi, Maryam; Dalirsani, Zohreh; Vazifeh Mostaan, Leila; Saghafi Khadem, Shadi; Ghalavani, Hanieh

    2015-01-01

    Basal cell carcinoma (BCC) is the most common cutaneous malignancy among Caucasians. Rare examples of aggressive and neglected BCC have been reported. Here we report a unique case of a neglected BCC with significant jaw involvement. A 50-year-old female, referred by an otorhinologist, presented with a large ulcer on her chin, which was extended to her mandibular vestibule. The ulcer was 9×5.5 cm in size, and tissue destruction, necrosis was observed in the central portion, and the mandibular bone was exposed. On intraoral examination, tooth mobility and severe bone loss were evident. Due to the primary cutaneous origin of the lesion, BCC was considered as preliminary diagnosis. Biopsy was performed and diagnosis of BCC was confirmed. The diseased mandibular bone was resected and reconstructed with a surgical plate. The soft tissue defect was reconstructed with deltopectoral flap. The patient refused secondary stage plastic surgery. Although BCC is not a lethal malignancy, if left untreated and neglected, it can result in severe destruction, disfigurement, and even mortality. PMID:25999630

  17. Nanostructured lipid carrier in photodynamic therapy for the treatment of basal-cell carcinoma.

    PubMed

    Qidwai, Afreen; Khan, Saba; Md, Shadab; Fazil, Mohammad; Baboota, Sanjula; Narang, Jasjeet K; Ali, Javed

    2016-05-01

    Topical photodynamic therapy (PDT) is a promising alternative for malignant skin diseases such as basal-cell carcinoma (BCC), due to its simplicity, enhanced patient compliance, and localization of the residual photosensitivity to the site of application. However, insufficient photosensitizer penetration into the skin is the major issue of concern with topical PDT. Therefore, the aim of the present study was to enable penetration of photosensitizer to the different strata of the skin using a lipid nanocarrier system. We have attempted to develop a nanostructured lipid carrier (NLC) for the topical delivery of second-generation photosensitizer, 5-amino levulinic acid (5-ALA), whose hydrophilicity and charge characteristic limit its percutaneous absorption. The microemulsion technique was used for preparing 5-ALA-loaded NLC. The mean particle size, polydispersity index, and entrapment efficiency of the optimized NLC of 5-ALA were found to be 185.2 ± 1.20, 0.156 ± 0.02, and 76.8 ± 2.58%, respectively. The results of in vitro release and in vitro skin permeation studies showed controlled drug release and enhanced penetration into the skin, respectively. Confocal laser scanning microscopy and cell line studies respectively demonstrated that encapsulation of 5-ALA in NLC enhanced its ability to reach deeper skin layers and consequently, increased cytotoxicity. PMID:26978275

  18. Significance of androgen receptor and CD10 expression in cutaneous basal cell carcinoma and trichoepithelioma

    PubMed Central

    ASTARCI, HESNA M.; GURBUZ, GULFEM A.; SENGUL, DEMET; HUCUMENOGLU, SEMA; KOCER, UGUR; USTUN, HUSEYIN

    2015-01-01

    Differential diagnosis of trichoepithelioma (TE) and basal cell carcinoma (BCC) on the basis of clinical symptoms and laboratory investigations may be difficult in certain patients. The aim of the present study was to compare cluster of differentiation 10 (CD10) and androgen receptor (AR) expression patterns in BCC and TE, to investigate the predictive power of these proteins as markers of the two conditions. A total of 39 cases of BCC and 15 cases of TE were retrieved from the pathology department archives. AR and CD10 immunohistochemistry was performed on all of the specimens; 23 BCC cases displayed focal nuclear AR staining, however, none of the cases demonstrated diffuse nuclear staining and 16 BCC cases were negative for AR staining. Stromal CD10 staining was more common in TE cases than in BCC cases, and peripheral CD10 staining was more common in BCC cases than in TE cases. AR immunostaining of the BCC samples typically appeared as scattered clusters and individual cells. In addition, AR and CD10 staining exhibited varying staining intensities within each samples. Incisional punch biopsy specimens have the potential to present false-negative results. Therefore, AR and CD10 staining of total excision biopsies provides a more accurate differential diagnosis of BCC and TE for cases with difficulties in the histopathological analysis. PMID:26788151

  19. Gene Expression and Proteome Analysis as Sources of Biomarkers in Basal Cell Carcinoma

    PubMed Central

    Ghita, Mihaela Adriana; Voiculescu, Suzana; Rosca, Adrian E.; Moraru, Liliana; Greabu, Maria

    2016-01-01

    Basal cell carcinoma (BCC) is the world's leading skin cancer in terms of frequency at the moment and its incidence continues to rise each year, leading to profound negative psychosocial and economic consequences. UV exposure is the most important environmental factor in the development of BCC in genetically predisposed individuals, this being reflected by the anatomical distribution of lesions mainly on sun-exposed skin areas. Early diagnosis and prompt management are of crucial importance in order to prevent local tissue destruction and subsequent disfigurement. Although various noninvasive or minimal invasive techniques have demonstrated their utility in increasing diagnostic accuracy of BCC and progress has been made in its treatment options, recurrent, aggressive, and metastatic variants of BCC still pose significant challenge for the healthcare system. Analysis of gene expression and proteomic profiling of tumor cells and of tumoral microenvironment in various tissues strongly suggests that certain molecules involved in skin cancer pathogenic pathways might represent novel predictive and prognostic biomarkers in BCC. PMID:27578920

  20. A reliable frozen section technique for basal cell carcinomas of the head and neck

    PubMed Central

    Menesi, Wisam; Buchel, Edward W; Hayakawa, Thomas JE

    2014-01-01

    Basal cell carcinomas (BCCs) of the head and neck treated by conventional techniques of surgical excision, curettage, cryotherapy and radiation therapy have recurrence rates of up to 42%. Mohs micrographic surgery (MMS) decreases the recurrence rate but can be expensive, delay definitive reconstruction and is limited in its availability. The authors report a series of 50 patients with head and neck BCCs treated by a surgeon-directed ‘en face’ frozen section technique that immediately evaluates the entire peripheral and deep margins during BCC resection, and potentially offers a more efficient and equally effective alternative to MMS. Patient demographics, pathology results, operative time, technique and outcomes are all reported. With a mean follow-up of three years, there was only one recurrence (1.7%). Mean total operative time was 1 h 47 min. The authors conclude that this surgeon-directed ‘en face’ frozen section technique does not require any specialized training, enables more rapid and reliable results than standard frozen section techniques that are currently used, and provides outcomes equivalent to MMS in the surgical treatment of head and neck BCCs. PMID:25332646

  1. Risk factors for basal cell carcinoma in the UK: case-control study in 806 patients.

    PubMed Central

    Lear, J T; Tan, B B; Smith, A G; Bowers, W; Jones, P W; Heagerty, A H; Strange, R C; Fryer, A A

    1997-01-01

    Basal cell carcinoma (BCC) is the commonest malignant neoplasm in white people. We present a large UK case-control study in which conditional logistic regression analysis of age-matched and gender-matched data sets was used to compare, first, cases with controls (n = 403) and second, patients having multiple BCC with those having a single BCC (n = 278). Eye/hair colour, occupation, skin type, social class, tumour site at presentation and smoking history were assessed. Social class 1/2, skin type 1, red/blonde hair and blue/green eyes were all related to BCC risk, social class most strongly (odds ratio 2.36, P = 0.007). Truncal site at presentation was a risk factor for the development of multiple BCC (odds ratio 4.03, P = 0.002). These data support the view that genetically mediated differences in ultraviolet responsiveness are important in BCC, though the scale of their effect is small. They may be exploitable in primary and secondary prevention as well as giving insights into pathogenesis. In particular, the fact that patients presenting with a truncal tumour are at increased risk of further BCC suggests that intermittent exposure in genetically predisposed individuals may contribute to a cancer susceptibility syndrome. PMID:9290417

  2. Development of Raman microspectroscopy for automated detection and imaging of basal cell carcinoma

    NASA Astrophysics Data System (ADS)

    Larraona-Puy, Marta; Ghita, Adrian; Zoladek, Alina; Perkins, William; Varma, Sandeep; Leach, Iain H.; Koloydenko, Alexey A.; Williams, Hywel; Notingher, Ioan

    2009-09-01

    We investigate the potential of Raman microspectroscopy (RMS) for automated evaluation of excised skin tissue during Mohs micrographic surgery (MMS). The main aim is to develop an automated method for imaging and diagnosis of basal cell carcinoma (BCC) regions. Selected Raman bands responsible for the largest spectral differences between BCC and normal skin regions and linear discriminant analysis (LDA) are used to build a multivariate supervised classification model. The model is based on 329 Raman spectra measured on skin tissue obtained from 20 patients. BCC is discriminated from healthy tissue with 90+/-9% sensitivity and 85+/-9% specificity in a 70% to 30% split cross-validation algorithm. This multivariate model is then applied on tissue sections from new patients to image tumor regions. The RMS images show excellent correlation with the gold standard of histopathology sections, BCC being detected in all positive sections. We demonstrate the potential of RMS as an automated objective method for tumor evaluation during MMS. The replacement of current histopathology during MMS by a ``generalization'' of the proposed technique may improve the feasibility and efficacy of MMS, leading to a wider use according to clinical need.

  3. Diagnosis of basal cell carcinoma by two photon excited fluorescence combined with lifetime imaging

    NASA Astrophysics Data System (ADS)

    Fan, Shunping; Peng, Xiao; Liu, Lixin; Liu, Shaoxiong; Lu, Yuan; Qu, Junle

    2014-02-01

    Basal cell carcinoma (BCC) is the most common type of human skin cancer. The traditional diagnostic procedure of BCC is histological examination with haematoxylin and eosin staining of the tissue biopsy. In order to reduce complexity of the diagnosis procedure, a number of noninvasive optical methods have been applied in skin examination, for example, multiphoton tomography (MPT) and fluorescence lifetime imaging microscopy (FLIM). In this study, we explored two-photon optical tomography of human skin specimens using two-photon excited autofluorescence imaging and FLIM. There are a number of naturally endogenous fluorophores in skin sample, such as keratin, melanin, collagen, elastin, flavin and porphyrin. Confocal microscopy was used to obtain structures of the sample. Properties of epidermic and cancer cells were characterized by fluorescence emission spectra, as well as fluorescence lifetime imaging. Our results show that two-photon autofluorescence lifetime imaging can provide accurate optical biopsies with subcellular resolution and is potentially a quantitative optical diagnostic method in skin cancer diagnosis.

  4. Gene Expression and Proteome Analysis as Sources of Biomarkers in Basal Cell Carcinoma.

    PubMed

    Lupu, Mihai; Caruntu, Constantin; Ghita, Mihaela Adriana; Voiculescu, Vlad; Voiculescu, Suzana; Rosca, Adrian E; Caruntu, Ana; Moraru, Liliana; Popa, Iris Maria; Calenic, Bogdan; Greabu, Maria; Costea, Daniela Elena

    2016-01-01

    Basal cell carcinoma (BCC) is the world's leading skin cancer in terms of frequency at the moment and its incidence continues to rise each year, leading to profound negative psychosocial and economic consequences. UV exposure is the most important environmental factor in the development of BCC in genetically predisposed individuals, this being reflected by the anatomical distribution of lesions mainly on sun-exposed skin areas. Early diagnosis and prompt management are of crucial importance in order to prevent local tissue destruction and subsequent disfigurement. Although various noninvasive or minimal invasive techniques have demonstrated their utility in increasing diagnostic accuracy of BCC and progress has been made in its treatment options, recurrent, aggressive, and metastatic variants of BCC still pose significant challenge for the healthcare system. Analysis of gene expression and proteomic profiling of tumor cells and of tumoral microenvironment in various tissues strongly suggests that certain molecules involved in skin cancer pathogenic pathways might represent novel predictive and prognostic biomarkers in BCC. PMID:27578920

  5. Marking sutures to orientate specimens of basal cell carcinoma: do they really make a difference?

    PubMed

    Tullett, M; Whittaker, M; Walsh, S

    2016-07-01

    Traditionally, marking sutures have been used to orientate specimens of non-melanomatous skin cancers, and they provide an identifiable point as a reference for monitoring and further treatment. For histopathological purposes, the orientated specimen is marked with different inks, which enables measurement to the nearest lateral and deep margins, and if invaded, guides further excision. We retrospectively analysed 688 specimens of basal cell carcinoma (BCC) from the head and neck from two separate years: 2010 and 2012. Marking sutures were used in 663 (96%) cases. There were 21 invaded margins (3%), 17 (81%) at the lateral margin and 4 (19%) at the deep margin. Of the 17 with invaded lateral margins, 10 were from the nose, and the remaining 7 from other sites including the ear (n=2), and neck, forehead, temple, eyelid, and cheek (n=1 each). Of the 663 marked specimens, the marking stitch was useful in only one patient who needed another operation (0.2%). We suggest that routine orientation of BCC, even from high risk areas, is not necessary. If the operating surgeon questions the size of the margin when a lesion is ill-defined or of a high-risk histological subtype, then excision with monitored en-face margins should be considered with traditional Mohs surgery or a reliable modified version. PMID:27126978

  6. Combination Trimodality Therapy Using Vismodegib for Basal Cell Carcinoma of the Face.

    PubMed

    Block, Alec M; Alite, Fiori; Diaz, Aidnag Z; Borrowdale, Richard W; Clark, Joseph I; Choi, Mehee

    2015-01-01

    Background. For large basal cell carcinomas (BCCs) of the head and neck, definitive surgery often requires extensive resection and reconstruction that may result in prolonged recovery and limited cosmesis. Vismodegib, a small-molecule inhibitor of the hedgehog pathway, is approved for advanced and metastatic BCCs. We present a case of advanced BCC treated with combination of vismodegib, radiotherapy, and local excision resulting in excellent response and cosmesis. Case Presentation. A 64-year-old gentleman presented with a 5-year history of a 7 cm enlarging right cheek mass, with extensive vascularization, central ulceration, and skin, soft tissue, and buccal mucosa involvement. Biopsy revealed BCC, nodular type. Up-front surgical option involved a large resection and reconstruction. After multidisciplinary discussion, we recommended and he opted for combined modality of vismodegib, radiotherapy, and local excision. The patient tolerated vismodegib well and his right cheek lesion decreased significantly in size. He was then treated with radiotherapy followed by local excision that revealed only focal residual BCC. Currently, he is without evidence of disease and has excellent cosmesis. Conclusions. We report a case of locally advanced BCC treated with trimodality therapy with vismodegib, radiotherapy, and local excision, resulting in excellent outcome and facial cosmesis, without requiring extensive resection or reconstructive surgery. PMID:26504605

  7. Usefulness of Photodynamic Therapy as a Possible Therapeutic Alternative in the Treatment of Basal Cell Carcinoma

    PubMed Central

    Savoia, Paola; Deboli, Tommaso; Previgliano, Alberto; Broganelli, Paolo

    2015-01-01

    Basal cell carcinoma (BCC) is the most common cancer in individuals with fair skin type (I–II) and steadily increasing in incidence (70% of skin malignancy). It is locally invasive but metastasis is usually very rare, with an estimated incidence of 0.0028%–0.55%. Conventional therapy is surgery, especially for the H region of the face and infiltrative lesions; in case of inoperable tumors, radiotherapy is a valid option. Recently, topical photodynamic therapy (PDT) has become an effective treatment in the management of superficial and small nodular BCC. PDT is a minimally invasive procedure that involves the administration of a photo-sensibilizing agent followed by irradiation at a pre-defined wavelength; this determines the creation of reactive oxygen species that specifically destroy target cells. The only major side effect is pain, reported by some patients during the irradiation. The high cure rate and excellent cosmetic outcome requires considering this possibility for the management of patients with both sporadic and hereditary BCC. In this article, an extensive review of the recent literature was made, in order to clarify the role of PDT as a possible alternative therapeutic option in the treatment of BCC. PMID:26426005

  8. Early-Onset Basal Cell Carcinoma and Indoor Tanning: A Population-Based Study

    PubMed Central

    Zens, M. Scot; Li, Zhigang; Stukel, Therese A.; Perry, Ann E.; Gilbert-Diamond, Diane; Sayarath, Vicki; Stephenson, Rita S.; Barton, Dorothea; Nelson, Heather H.; Spencer, Steven K.

    2014-01-01

    OBJECTIVE: Indoor tanning with UV radiation–emitting lamps is common among adolescents and young adults. Rising incidence rates of basal cell carcinoma (BCC) have been reported for the United States and elsewhere, particularly among those diagnosed at younger ages. Recent epidemiologic studies have raised concerns that indoor tanning may be contributing to early occurrence of BCC, and younger people may be especially vulnerable to cancer risk associated with this exposure. Therefore, we sought to address these issues in a population-based case–control study from New Hampshire. METHODS: Data on indoor tanning were obtained on 657 cases of BCC and 452 controls ≤50 years of age. RESULTS: Early-onset BCC was related to indoor tanning, with an adjusted odds ratio (OR) of 1.6 (95% confidence interval, 1.3–2.1). The strongest association was observed for first exposure as an adolescent or young adult, with a 10% increase in the OR with each age younger at first exposure (OR per year of age ≤23 = 1.1; 95% confidence interval, 1.0–1.2). Associations were present for each type of device examined (ie, sunlamps, tanning beds, and tanning booths). CONCLUSIONS: Our findings suggest early exposure to indoor tanning increases the risk of early development of BCC. They also underscore the importance of counseling adolescents and young adults about the risks of indoor tanning and for discouraging parents from consenting minors to this practice. PMID:24958589

  9. Sensitivity and Specificity for Detecting Basal Cell Carcinomas in Mohs Excisions with Confocal Fluorescence Mosaicing Microscopy

    PubMed Central

    Gareau, Daniel S.; Karen, Julie K.; Dusza, Stephen W.; Tudisco, Marie; Nehal, Kishwer S.; Rajadhyaksha, Milind

    2009-01-01

    Recent studies have demonstrated the ability of confocal fluorescence mosaicing microscopy to rapidly detect basal cell carcinomas (BCCs) directly in thick and fresh Mohs surgical excisions. Mosaics of confocal images display large areas of tissue with high resolution and magnification equivalent to 2X, which is the standard magnification when examining pathology. Comparison of mosaics to Mohs frozen histopathology was shown to be excellent for all types of BCCs. However, the comparisons in the previous studies were visual and qualitative. In this paper, we report the results of a semi-quantitative preclinical study in which forty-five confocal mosaics were blindly evaluated for the presence (or absence) of BCC tumor. The evaluations were by two clinicians: a senior Mohs surgeon, with prior expertise in interpreting confocal images, and a novice Mohs fellow, with limited experience. The blinded evaluation was compared to the gold standard of frozen histopathology. BCCs were detected with an overall sensitivity of 96.6%, specificity of 89.2%, positive predictive value of 93.0% and negative predictive value of 94.7%. The results demonstrate the potential clinical utility of confocal mosaicing microscopy toward rapid surgical pathology-at-the-bedside to expedite and guide surgery. PMID:19566305

  10. Advanced basal cell carcinoma, the hedgehog pathway, and treatment options – role of smoothened inhibitors

    PubMed Central

    Fecher, Leslie A; Sharfman, William H

    2015-01-01

    Cutaneous basal cell carcinoma (BCC) is the most common human cancer and its incidence is rising worldwide. Ultraviolet radiation exposure, including tanning bed use, as well as host factors play a role in its development. The majority of cases are treated and cured with local therapies including surgery. Yet, the health care costs of diagnosis and treatment of BCCs in the US is substantial. In the United States, the cost of nonmelanoma skin cancer care in the Medicare population is estimated to be US$426 million per year. While rare, locally advanced BCCs that can no longer be controlled with surgery and/or radiation, and metastatic BCCs do occur and can be associated with significant morbidity and mortality. Vismodegib (GDC-0449), a smoothened inhibitor targeted at the hedgehog pathway, is the first US Food and Drug Association (FDA)-approved agent in the treatment of locally advanced, unresectable, and metastatic BCCs. This class of agents appears to be changing the survival rates in advanced BCC patients, but appropriate patient selection and monitoring are important. Multidisciplinary assessments are essential for the optimal care and management of these patients. For some patients with locally advanced BCC, treatment with a hedgehog inhibitor may eliminate the need for an excessively disfiguring or morbid surgery. PMID:26604681

  11. Distribution of protoporphyrin IX in Bowen's disease and basal cell carcinomas treated with topical 5-aminolaevulinic acid

    NASA Astrophysics Data System (ADS)

    Roberts, David J.; Stables, G. I.; Ash, D. V.; Brown, Stanley B.

    1995-03-01

    We have used ultra-low light level fluorescence microscopy to examine the suggestion that the relatively poor response of human basal cell carcinomas (BCC) to topical 5-aminolaevulinic acid (ALA)-based photodynamic therapy (PDT) arises from limited drug penetration into the lesion. The distribution of ALA-induced protoporphyrin IX (PpIX) in human BCC and Bowen's disease was examined and, in almost all cases, was found to be most intense in those regions of tumor immediately adjacent to the dermis. This distribution was independent of tumor type, and did not appear to be affected by tumor depth in the skin. It is suggested that ALA penetration may not limit the efficacy of ALA-PDT in the treatment of BCC. Failure of superficial ALA-based PDT in basal cell carcinoma may, instead, be related to the histological structure of this type of lesion.

  12. Usefulness of confocal microscopy in distinguishing between basal cell carcinoma and intradermal melanocytic nevus on the face.

    PubMed

    Gamo, R; Floristan, U; Pampín, A; Caro, D; Pinedo, F; López-Estebaranz, J L

    2015-10-01

    The clinical distinction between basal cell carcinoma (BCC) and intradermal melanocytic nevus lesions on the face can be difficult, particularly in young patients or patients with multiple nevi. Dermoscopy is a useful tool for analyzing characteristic dermoscopic features of BCC, such as cartwheel structures, maple leaf-like areas, blue-gray nests and dots, and ulceration. It also reveals arborizing telangiectatic vessels and prominent curved vessels, which are typical of BCC, and comma vessels, which are typical of intradermal melanocytic nevi. It is, however, not always easy to distinguish between these 2 conditions, even when dermoscopy is used. We describe 2 facial lesions that posed a clinical and dermoscopic challenge in two 38-year-old patients; confocal microscopy showed separation between tumor nests and stroma and polarized nuclei, which are confocal microscopy features of basal cell carcinoma. PMID:26093995

  13. Dramatic Resolution of an Unresectable Giant Basal Cell Carcinoma Treated with Intensity-Modulated Radiation Therapy (IMRT) - A Case Report

    PubMed Central

    Wandrey, Narine; Chen, Tiffany

    2015-01-01

    A 59-year-old man presented with an unresectable bulky giant basal cell carcinoma on his upper back. A trial of chemotherapy did not help relieve his symptoms or reduce the tumor. He was referred for and received definitive radiation therapy via IMRT with dramatic regression. The patient had been unable to lie on his back for many years but currently can sleep comfortably on his back without pain, which has dramatically improved his quality of life. PMID:26848409

  14. Evaluation of the ‘Hedgehog’ signaling pathways in squamous and basal cell carcinomas of the eyelids and conjunctiva

    PubMed Central

    CELEBI, ALI RIZA CENK; KIRATLI, HAYYAM; SOYLEMEZOGLU, FIGEN

    2016-01-01

    The purpose of the present study was to assess the role of hedgehog signaling pathway in the carcinogenesis of eyelid skin and conjunctival epithelial malignant tumors. The study was conducted on specimens from 41 patients with cutaneous eyelid basal cell carcinoma, 22 with bulbar conjunctival squamous cell carcinoma, 12 with bulbar conjunctival intraepithelial neoplasia. Major molecules of Hedgehog signaling pathway (Sonic Hedgehog [Shh] and Patched-1 [Ptch-1] and Glioma-associated oncogene [Gli-1]) were evaluated in paraffin-embedded tissue specimens using immunohistochemical staining. For each specimen, the percentage (<10%, 10–50%, >50%) and the intensity of the immunohistochemical staining (graded from 0 to 3) were calculated and the scores obtained by multiplication of two values were analyzed using the Kruskall-Wallis test. Shh and Ptch-1 expression levels were statistically significantly lower in the basal cell carcinoma group compared with the squamous cell carcinoma group (P=0.043 for Shh; P=0.030 for Ptch-1). In the conjunctival squamous cell carcinoma group, the Ptch-1 score was 0 in ~25% of specimens and the Gli-1 score was ≤2 in ~45% of cases. In the conjunctival intraepithelial neoplasia group, the Ptch-1 score was ≥2 in 66% of specimens, the Gli-1 score was ≤2 in ~92% of cases. Ptch-1 mutations contribute to the development of cutaneous eyelid basal cell carcinoma. The present study provides evidence that alterations in hedgehog signaling pathways may lead to transformation of the conjunctival intraepithelial neoplasia into invasive squamous cell carcinoma. PMID:27347166

  15. Hedgehog signaling pathway: A novel target for cancer therapy: Vismodegib, a promising therapeutic option in treatment of basal cell carcinomas

    PubMed Central

    Abidi, Afroz

    2014-01-01

    The Hedgehog signaling pathway is one of the major regulators of cell growth and differentiation during embryogenesis and early development. It is mostly quiescent in adults but inappropriate mutation or deregulation of the pathway is involved in the development of cancers. Therefore; recently it has been recognized as a novel therapeutic target in cancers. Basal cell carcinomas (BCC) and medulloblastomas are the two most common cancers identified with mutations in components of the hedgehog pathway. The discovery of targeted Hedgehog pathway inhibitors has shown promising results in clinical trials, several of which are still undergoing clinical evaluation. Vismodegib (GDC-0449), an oral hedgehog signaling pathway inhibitor has reached the farthest in clinical development. Initial clinical trials in basal cell carcinoma and medulloblastoma have shown good efficacy and safety and hence were approved by U.S. FDA for use in advanced basal cell carcinomas. This review highlights the molecular basis and the current knowledge of hedgehog pathway activation in different types of human cancers as well as the present and future prospects of the novel drug vismodegib. PMID:24550577

  16. Smoothened (SMO) receptor mutations dictate resistance to vismodegib in basal cell carcinoma.

    PubMed

    Pricl, Sabrina; Cortelazzi, Barbara; Dal Col, Valentina; Marson, Domenico; Laurini, Erik; Fermeglia, Maurizio; Licitra, Lisa; Pilotti, Silvana; Bossi, Paolo; Perrone, Federica

    2015-02-01

    Basal cell carcinomas (BCCs) and a subset of medulloblastomas are characterized by loss-of-function mutations in the tumor suppressor gene, PTCH1. PTCH1 normally functions by repressing the activity of the Smoothened (SMO) receptor. Inactivating PTCH1 mutations result in constitutive Hedgehog pathway activity through uncontrolled SMO signaling. Targeting this pathway with vismodegib, a novel SMO inhibitor, results in impressive tumor regression in patients harboring genetic defects in this pathway. However, a secondary mutation in SMO has been reported in medulloblastoma patients following relapse on vismodegib to date. This mutation preserves pathway activity, but appears to confer resistance by interfering with drug binding. Here we report for the first time on the molecular mechanisms of resistance to vismodegib in two BCC cases. The first case, showing progression after 2 months of continuous vismodegib (primary resistance), exhibited the new SMO G497W mutation. The second case, showing a complete clinical response after 5 months of treatment and a subsequent progression after 11 months on vismodegib (secondary resistance), exhibited a PTCH1 nonsense mutation in both the pre- and the post-treatment specimens, and the SMO D473Y mutation in the post-treatment specimens only. In silico analysis demonstrated that SMO(G497W) undergoes a conformational rearrangement resulting in a partial obstruction of the protein drug entry site, whereas the SMO D473Y mutation induces a direct effect on the binding site geometry leading to a total disruption of a stabilizing hydrogen bond network. Thus, the G497W and D473Y SMO mutations may represent two different mechanisms leading to primary and secondary resistance to vismodegib, respectively. PMID:25306392

  17. Efficacy and safety of electronic brachytherapy for superficial and nodular basal cell carcinoma

    PubMed Central

    Pons-Llanas, Olga; Candela-Juan, Cristian; Celada-Alvarez, Francisco Javier; de Unamuno-Bustos, Blanca; Llavador-Ros, Margarita; Ballesta-Cuñat, Antonio; Barker, Christopher A.; Tormo-Mico, Alejandro; Botella-Estrada, Rafael; Perez-Calatayud, Jose

    2015-01-01

    Purpose Surface electronic brachytherapy (EBT) is an alternative radiotherapy solution to external beam electron radiotherapy and high-dose-rate radionuclide-based brachytherapy. In fact, it is also an alternative solution to surgery for a subgroup of patients. The objective of this work is to confirm the clinical efficacy, toxicity and cosmesis of a new EBT system, namely Esteya® in the treatment of nodular and superficial basal cell carcinoma (BCC). Material and methods This is a prospective single-center, non-randomized pilot study to assess the efficacy and safety of EBT in nodular and superficial BCC using the Esteya® system. The study was conducted from June 2014 to February 2015. The follow up time was 6 months for all cases. Results Twenty patients with 23 lesions were included. A complete response was documented in all lesions (100%). A low level of toxicity was observed after the 4th fraction in all cases. Erythema was the most frequent adverse event. Cosmesis was excellent, with more than 60% of cases without skin alteration and with subtle changes in the rest. Conclusions Electronic brachytherapy with Esteya® appears to be an effective, simple, safe, and comfortable treatment for nodular and superficial BCC associated with excellent cosmesis. It could be a good choice for elderly patients, patients with contraindications for surgery (due to comorbidities or anticoagulant drugs) or patients where surgery would result in a more disfiguring outcome. A longer follow-up and more studies are needed to confirm these preliminary results. PMID:26207112

  18. Association of Prediagnostic Serum Vitamin D levels with the Development of Basal Cell Carcinoma

    PubMed Central

    Asgari, Maryam M.; Tang, Jean; Margaret Warton, E.; Chren, Mary-Margaret; Quesenberry, Charles P.; Bikle, Dan; Horst, Ronald L.; Orentreich, Norman; Vogelman, Joseph H.; Friedman, Gary D.

    2009-01-01

    We investigated the association between serum 25-hydroxyvitamin D (25(OH)D) levels and basal cell carcinoma (BCC) risk in a nested case-control study at Kaiser Permanente Northern California (KPNC). 220 case patients with BCC diagnosed after serum collection were matched to 220 control subjects. We estimated odds ratios (ORs) and 95% confidence intervals (CIs) using conditional logistic regression. Fully adjusted models included body mass index (BMI), smoking, education, sun-exposure variables, x-ray exposure, and personal history of cancer. For each measure of serum 25(OH)D (continuous, clinically relevant tertiles, quintiles), we found an increased risk of BCC in unadjusted models (OR=1.03, 95% CI 1.00–1.05, p<0.05; OR= 3.98, 95% CI: 1.31–12.31, deficient vs. sufficient, test for trend p value <0.01; OR=2.32, 95% CI: 1.20–4.50, 1st vs. 5th quintile, test for trend p value 0.03). In fully adjusted models, the values attenuated slightly (OR=1.02, 95% CI 1.00–1.05, p<0.05; OR= 3.61, 95% CI: 1.00–13.10, deficient vs. sufficient, t-trend p=0.03; OR=2.09 1st vs. 5th quintile, 95% CI: 0.95–4.58, t-trend p=0.11). Our findings suggest that higher pre-diagnostic serum 25(OH)D levels may be associated with increased risk of subsequent BCC. Further studies to evaluate the effect of sun exposure on BCC and serum 25(OH)D levels may be warranted. PMID:20043012

  19. Female Estrogen-Related Factors and Incidence of Basal Cell Carcinoma in a Nationwide US Cohort

    PubMed Central

    Cahoon, Elizabeth K.; Kitahara, Cari M.; Ntowe, Estelle; Bowen, Emily M.; Doody, Michele M.; Alexander, Bruce H.; Lee, Terrence; Little, Mark P.; Linet, Martha S.; Freedman, D. Michal

    2015-01-01

    Purpose UV radiation exposure is the primary risk factor for basal cell carcinoma (BCC), the most common human malignancy. Although the photosensitizing properties of estrogens have been recognized for decades, few studies have examined the relationship between reproductive factors or exogenous estrogen use and BCC. Methods Using data from the US Radiologic Technologists Study, a large, nationwide, prospective cohort, we assessed the relationship between reproductive factors, exogenous estrogen use, and first primary BCC while accounting for sun exposure, personal sun sensitivity, and lifestyle factors for geographically dispersed women exposed to a wide range of ambient UV radiation. Results Elevated risk of BCC was associated with late age at natural menopause (hazard ratio [HR] for ≥ 55 years v 50 to 54 years, 1.50; 95% CI, 1.04 to 2.17) and any use of menopausal hormone therapy (MHT; HR, 1.16; 95% CI, 1.03 to 1.30; P for trend for duration = .001). BCC risk was most increased among women reporting natural menopause who used MHT for 10 or more years versus women who never used MHT (HR, 1.97; 95% CI, 1.35 to 2.87). Risk of BCC was not associated with age at menarche, parity, age at first birth, infertility, use of diethylstilbestrol by participant's mother, age at hysterectomy, or use of oral contraceptives. Conclusion These analyses confirm a previous finding of increased risk of BCC associated with MHT. Novel findings of increased BCC risk associated with MHT in women experiencing natural menopause and for late age at natural menopause warrant further investigation. Users of MHT may constitute an additional high-risk group in need of more frequent skin cancer screening. PMID:26527779

  20. Efficacy of low-dose mTHPC-PDT for the treatment of basal cell carcinomas

    NASA Astrophysics Data System (ADS)

    Betz, Christian S.; Rauschning, Winrich; Stranadko, Evgueni P.; Riabov, Mikhail V.; Albrecht, Volker; Nifantiev, Nikolay E.; Hopper, Colin

    2009-06-01

    Objectives: Basal cell carcinomas (BCCs) are the most common skin cancers, and incidence rates are still rising. Photodynamic Therapy (PDT) with mTHPC (Foscan®) has shown to be a promising alternative to other treatments with good cosmetic results. This study was performed to determine optimal treatment parameters for this indication. Methods: 117 patients with a total of 460 BCCs received mTHPC-PDT. The treatment parameters were varied as follows: Foscan® dose 0.03 - 0.15 mg/kg, drug-light interval (DLI) 1 - 96 hours, total energy density 20 - 120 J/cm2. The clinical outcomes were assessed 8 weeks after PDT following WHO guidelines. Results: The rate of complete remissions (CR) was 96.7% and the general cosmetic outcome rated very good. In the largest subgroup (n=80) with low-dose mTHPC (0.05 mg/kg mTHPC; 48 hours DLI; 50 J/cm2 total energy density), a CR rate of 100% was accomplished. Minor changes of the parameters (0.04 mg/kg mTHPC or 24 hours DLI) yielded similar results. Side effects were encountered in 52 out of 133 PDT sessions. They were more common in patients who had received high drug doses (0.06 - 0.15 mg/kg) and comprised pain and phototoxic reactions. 3 patients developed severe sunburns with subsequent scarring at the injection site following sunlight exposure 2-3 weeks after mTHPC administration. Conclusions: The data suggests that low-dose mTHPC-PDT is an effective treatment option for BCCs. If sensibly applied, it is well tolerated and provides mostly excellent cosmetic results. The evaluation of long term results is still to be undertaken.

  1. Basal Cell Carcinoma of the Outer Nose: Overview on Surgical Techniques and Analysis of 312 Patients

    PubMed Central

    Wollina, Uwe; Bennewitz, Annett; Langner, Dana

    2014-01-01

    Background: Basal cell carcinoma of the nose is common, with a potential of local recurrence and high-risk features. Materials and Methods: We provide a review on anatomy of the nose, tumour surgery and defect closure on the nose. We analysed our own patients with nasal BCC of a 24 months period. Results: We identified 321 patients with nasal BCC. There was a predominance of female patients of 1.2 to 1. The mean age was 74.8 years. Slow Mohs technique was employed for all tumours until 3D tumour-free margins were achieved. That resulted on average in 1.8 ± 0.7 Mohs stages. The most common histologic types were solitary (n = 182), morpheic (79), and micronodular (20), Perineural infiltration was evident in 56 tumours. Primary closure after mobilisation of soft tissue was possible in 105 BCCs. Advancement flaps were used in 91 tumours, rotation flaps in 47, transposition flaps in 34 tumours, and combined procedures in 6 cases. In 36 patients full-thickness skin grafting was performed. In two patients healing by second intention was preferred. Partial flap loss was seen in four patients (1.4%). All of them had significant underlying pathologies. None of the tumours treated showed a relapse during the observation time. However, this is a limitation of the present study since follow-up was on average only 10 months. Conclusions: BCCs of the nose are common. Only 3D-controlled micrographic surgery (Mohs or slow Mohs) guarantee a high rate of complete tumour removal and a very low risk of recurrence. PMID:25538434

  2. 5 Years review of periocular basal cell carcinoma and proposed follow-up protocol

    PubMed Central

    Ho, S F; Brown, L; Bamford, M; Sampath, R; Burns, J

    2013-01-01

    Aim (1) To investigate the recurrence of periocular basal cell carcinoma (BCC) reported as completely excised on histology. (2) To identify risks associated with recurrence. (3) To recommend a rational follow-up protocol. Methods This is a cohort study by case note review of consecutive patients undergoing excision of periocular BCC between 2000 and 2006 at University Hospitals of Leicester. All lesions were excised with 3 mm clinical margin and the defect reconstructed only after the excision margin was declared clear. Results A total of 413 episodes of surgical excision were recorded for 270 patients over the 7-year period of 2000–2006. All of them have 5 years follow-up. Mean age 73.7 (±12.5). In all, 67% were nodular BCC and 45.4% located in the lower eyelid. The main outcome measure was the recurrence rate. None of the patients with primary nodular BCC suffered recurrence. The recurrence rate for primary morphoeaform BCC following complete excision is 3.8%. In total, 8.1% of patients had several lesions simultaneously whereas 7.8% patients had BCC in multiple locations subsequently (metachronous). Three patients who had previously recurrent BCC (rBCC) treated elsewhere or not using this method had orbital/lacrimal drainage system involvement requiring exenteration. Conclusion We recommend that patients with a single, completely excised primary solid or nodular BCC can be discharged after one 6-monthly review, although they should be instructed to monitor for the development of further lesions. The incidence of recurrence for primary morphoeaform BCC is 3.8% and for rBCC is 3.6% over 5 years and these patients should stay under review for this period. PMID:23154501

  3. Soluble interleukin-2 receptor α and interleukin-2 serum levels in patients with basal cell carcinoma

    PubMed Central

    Bien, Ewa; Zablotna, Monika; Sokolowska-Wojdylo, Malgorzata; Sikorska, Monika; Lange, Magdalena; Nowicki, Roman

    2016-01-01

    Introduction Basal cell carcinoma (BCC) is an immunogenic neoplasm and the imbalance in Th1/Th2 cytokines expression seems to play the major role in pathogenesis and clinical behaviour of the tumour. Aim To investigate the association of soluble interleukin 2α receptor (sIL-2Rα) and interleukin-2 (IL-2) serum concentrations with BCC. Material and methods The study involved 110 individuals with BCC and 60 healthy age- and sex-matched volunteers. Serum levels of sIL-2Rα and IL-2 were measured using ELISA test. Results We found significantly (p = 0.027) increased sIL-2Rα serum levels in BCC patients, in comparison to healthy controls. Statistically (p = 0.04) higher sIL-2Rα levels were observed in patients with more advanced tumours. Serum levels of sIL-2Rα showed a significant linear (r = 0.24, p = 0.018) correlation with tumour size. The average IL-2 serum levels in BCC patients were statistically (p = 0.039) decreased compared to controls. Significantly (p = 0.0454) lower median IL-2 levels were observed in patients with more advanced tumours. A negative correlation between sIL-2Rα and IL-2 serum concentrations was revealed (r = –0.22; p = 0.027). Conclusions Our results testify to the importance of the IL-2/sIL-2Rα signalling pathway in pathogenesis of BCC, suggesting that IL-2 and sIL-2Rα might be considered as potential markers of disease and targets for immunotherapy in BCC patients. PMID:27605896

  4. Infiltrating basal cell carcinoma: a stellate peri-tumor dermatoscopy pattern as a clue to diagnosis

    PubMed Central

    Pyne, John H.; Fishburn, Paul; Dicker, Anthony; David, Michael

    2015-01-01

    Background: Infiltrating basal cell carcinoma (BCC) has associated features that may be readily identified using dermatoscopy. Objective: Investigate a stellate dermatoscopy pattern extending from the peripheral margin of infiltrating BCC. Methods: A total of 741 consecutive cases of BCC were assessed retrospectively using non-polarized dermatoscopy. Following histopathologic examination, cases were categorized into six different BCC subtypes. Infiltrating cases numbered 107. This stellate feature was defined as a geometric star shaped pattern extending outwards from the circumferential peripheral edge of the tumor, and identified by white lines, vessels or uneven skin surface morphology. The percentages of infiltrating subtype within the tumor mass and tumor depth were compared, with and without the stellate pattern. Results: Infiltrating BCC displayed the stellate pattern more than other BCC subtypes. Concordance between the two observers was almost perfect for white lines: Kappa coefficient of 0.87 (95% CI: 0.0.79–0.95) P<0.01 and substantial for vessels: Kappa coefficient of 0.71 95% CI: 0.59–0.84) P<0.01. Folds were only recorded in infiltrating cases (n=3). Compared to other BCC subtypes the stellate pattern had a sensitivity of 31.7% and specificity of 94.1%. A higher mean fraction of the tumor mass containing infiltrating subtype was found when comparing stellate pattern observed to stellate pattern not observed (P<0.01). No statistically significant association was found between the tumor depth with and without the stellate pattern. Conclusion: This study found a higher incidence of the stellate pattern within infiltrating BCC compared to the other BCC subtypes. As the percentage of the infiltrating subtype within the tumors increased the incidence of the stellate pattern also increased. PMID:26114047

  5. Radiation-Related Risk of Basal Cell Carcinoma: A Report From the Childhood Cancer Survivor Study

    PubMed Central

    2012-01-01

    Background Basal cell carcinoma (BCC) is the most common malignancy in the United States. Ionizing radiation is an established risk factor in certain populations, including cancer survivors. We quantified the association between ionizing radiation dose and the risk of BCC in childhood cancer survivors. Methods Participants in the Childhood Cancer Survivor Study who reported a BCC (case subjects, n = 199) were matched on age and length of follow-up to three study participants who had not developed a BCC (control subjects, n = 597). The radiation-absorbed dose (in Gy) to the BCC location was calculated based on individual radiotherapy records using a custom-designed dosimetry program. Conditional logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs) for associations between demographic and treatment factors, therapeutic radiation dose, and surrogate markers of sun sensitivity (skin and hair color) and the risk of BCC. A linear dose–response model was fitted to evaluate the excess odds ratio per Gy of radiation dose. Results Among case subjects, 83% developed BCC between the ages of 20 and 39 years. Radiation therapy, either alone or in combination with chemotherapy, was associated with an increased risk of BCC compared with no chemotherapy or radiation. The odds ratio for subjects who received 35 Gy or more to the skin site vs no radiation therapy was 39.8 (95% CI = 8.6 to 185). Results were consistent with a linear dose–response relationship, with an excess odds ratio per Gy of 1.09 (95% CI = 0.49 to 2.64). No other treatment variables were statistically significantly associated with an increased risk of BCC. Conclusions Radiation doses to the skin of more than 1 Gy are associated with an increased risk of BCC. PMID:22835387

  6. Hedgehog signaling pathway and its targets for treatment in basal cell carcinoma

    PubMed Central

    Cucchi, Danilo; Occhione, Maria Anna; Gulino, Alberto; De Smaele, Enrico

    2012-01-01

    Basal cell carcinoma (BCC) of the skin is the most common type of cancer and accounts for up to 40% of all cancers in the US, with a growing incidence rate over recent decades in all developed countries. Surgery is curative for most patients, although it leaves unaesthetic scars, but those that develop locally advanced or metastatic BCC require different therapeutic approaches. Furthermore, patients with BCC present a high risk of developing additional tumors. The increasing economic burden and the morbidity of BCC render primary interest in the development of targeted treatments for this disease. Among the molecular signals involved in the development of BCC, the critical role of the morphogenetic Hedgehog (Hh) pathway has become evident. This pathway is found altered and activated in almost all BCCs, both sporadic and inherited. Given the centrality of the Hh pathway in the pathophysiology of BCC, the primary efforts to identify molecular targets for the topical or systemic treatment of this cancer have focused on the Hh components. Several Hh inhibitors have been so far identified – from the first identified natural cyclopamine to the recently Food and Drug Administration-approved synthetic vismodegib – most of which target the Hh receptor Smoothened (either its function or its translocation to the primary cilium). Other molecules await further characterization (bisamide compounds), while drugs currently approved for other diseases such as itraconazole (an antimicotic agent) and vitamin D3 have been tested on BCC with encouraging results. The outcomes of the numerous ongoing clinical trials are expected to expand the field in the very near future. Further research is needed to obtain drugs targeting downstream components of the Hh pathway (eg, Gli) or to exploit combinatorial therapies (eg, with phosphatidylinositol 3-kinase inhibitors or retinoids) in order to overcome potential drug resistance.

  7. Usefulness of Dermatoscopy for the Preoperative Assessment of the Histopathologic Aggressiveness of Basal Cell Carcinoma

    PubMed Central

    Kim, Hoon-Soo; Park, Jung-Min; Mun, Je-Ho; Song, Margaret; Ko, Hyun-Chang; Kim, Byung-Soo

    2015-01-01

    Background Limited information is available regarding dermatoscopic differences between non-aggressive and aggressive types of basal cell carcinoma (BCC). Objective To investigate dermatoscopic differences between non-aggressive and aggressive types. Methods We evaluated 145 histopathologically confirmed BCCs from 141 patients. Histopathologic types and aggressiveness from 4 mm punch biopsy and their dermatoscopic findings were evaluated. We assessed the statistical significance of dermatoscopic differences between non-aggressive and aggressive types. To objectively predict aggressiveness, we created a "dermatoscopic index of BCC aggressiveness" in which 1 point was added and subtracted for each dermatoscopic finding significantly higher in aggressive and non-aggressive types, respectively. Results Large blue-gray ovoid nests were found more frequently in non-aggressive type than aggressive one (85/105 [80.9%] vs. 21/40 [52.5%], p=0.001). Compared to non-aggressive type, aggressive type had more multiple blue-gray globules (29/40 [72.5%] vs. 57/105 [54.3%], p=0.046), arborizing telangiectasia (29/40 [72.5%] vs. 48/105 [45.7%], p=0.004), and concentric structure (11/40 [27.5%] vs. 12/105 [11.4%], p=0.018). Regarding dermatoscopic index, cases of aggressive type with a score of 1 were most common (n=18, 45.0%), followed by a score of 2 (n=14, 35.0%). Limited number of aggressive type of BCCs and the effect of width on the determination of histopathologic aggressiveness. Conclusion Aggressive type BCCs more often exhibited multiple blue-gray globules, arborizing telangiectasia, and concentric structure, while the non-aggressive type exhibited large blue-gray ovoid nests more frequently. Score exceeding 2 on the dermoscopic index can be screening criteria for aggressiveness. These dermatoscopic features and dermoscopic index could be useful for assessing aggressiveness of BCCs before surgery. PMID:26719636

  8. Human Papillomaviruses, p16INK4a and Akt expression in basal cell carcinoma

    PubMed Central

    2011-01-01

    Background The pathogenic role of beta-HPVs in non melanoma skin cancer (NMSC), is not still completely understood, and literature data indicate that they might be at least cofactors in the development of certain cutaneous squamous cell carcinomas. However, only few reports contain data on basal cell carcinoma (BCC). The HPVs interact with many cellular proteins altering their function or the expression levels, like the p16INK4a and Akt. Our study aimed to determine the presence of different beta -HPV types and the expression of p16INK4a and Akt in BCC, the commonest NMSC, in the normal appearing perilesional skin and in forehead swab of 37 immunocompetent patients. Methods The expression of p16INK4a and Akt, by immunohistochemistry, and the HPV DNA, by nested PCR, were investigated in each sample. Results No correspondence of HPV types between BCC and swab samples was found, whereas a correspondence between perilesional skin and BCC was ascertained in the 16,7% of the patients. In BCC, 16 different types of beta HPV were found and the most frequent types were HPV107 (15,4%), HPV100 (11,5%) and HPV15 (11,5%) all belonging to the beta HPV species 2. Immunohistochemistry detected significant p16INK4a expression in almost all tumor samples (94,3%) with the highest percentages (> 30%) of positive cells detected in 8 cases. A statistically significant (p = 0,012) increase of beta HPV presence was detected in p16INK4a strongly positive samples, in particular of species 2. pAkt expression was detected in all tumor samples with only 2 cases showing rare positive cells, whereas Akt2 expression was found in 14 out of 35 BCC (40%); in particular in HPV positive samples over-expressing p16INK4a. Conclusions Our data show that p16INK4a and pAkt are over-expressed in BCC and that the high expression of p16INK4a and of Akt2 isoform is often associated with the presence of beta-HPV species 2 (i.e. HPV 15). The association of these viruses with the up-regulation of p16INK4a and Akt

  9. Benign hair-follicle derived tumours in the differential diagnosis of basal-cell carcinoma of the eyelids: a clinicopathological comparison.

    PubMed Central

    Simpson, W; Garner, A; Collin, J R

    1989-01-01

    Benign eyelid tumours derived from hair follicles are rare and frequently misdiagnosed as basal-cell carcinoma when evaluation is based on clinical evidence alone. They include trichoepithelioma, trichofolliculoma, trichilemmoma, and pilomatrixoma. We reviewed 117 such tumours received in the Department of Pathology, Institute of Ophthalmology, London, in the last 30 years, a number which compared with 2447 basal-cell carcinomas seen over the same period. The hair follicle tumours may be safely excised with a narrow margin of clearance, whereas a macroscopic clearance of 3 to 5 mm or surgery with frozen section histological control is desirable for excision of basal-cell carcinoma. Therefore confirmation by incisional biopsy of the nature of any large lesion suspected of being a basal-cell carcinoma is essential in order to avoid performing an unnecessarily extensive or time consuming excision. Images PMID:2730855

  10. Phenotypic spectrum of a patient with Gorlin’s syndrome and role of dermoscopy in the early detection of basal cell carcinomas*

    PubMed Central

    Moreira, Catarina; Morais, Paulo; Santos, Paulo; Castro, Miguel; Azevedo, Filomena

    2015-01-01

    Gorlin's syndrome is an autosomal dominant disorder, mainly characterized by the presence of multiple and early-onset basal cell carcinomas, odontogenic keratocysts and palmoplantar pits. We describe the case of a patient with clinical and imaging features of Gorlin syndrome, and highlight the role of dermoscopy in the early detection of basal cell carcinomas. In addition, we discuss the dermoscopic features of palmar pits. PMID:26131878

  11. Treatment of superficial basal cell carcinoma with ingenol mebutate gel, 0.05%

    PubMed Central

    Bettencourt, Miriam S

    2016-01-01

    Background Basal cell carcinoma (BCC) is the most common cancer in Caucasians. Surgical approaches are the most widely used and effective treatment strategies for well-defined BCC. However, for patients with low-risk, superficial BCCs (sBCCs), medical therapy may be a treatment option. In this small case series, we describe our experience in using topical treatment with ingenol mebutate gel, 0.05%, for patients who refused surgical treatment for sBCC. Methods We conducted a retrospective chart review of seven patients from our community dermatology practice for whom sBCC was treated with ingenol mebutate. The chart review extracted information on demography, dermatologic history, and prior treatment for actinic keratosis or skin cancer. Summary of the treatment outcome with ingenol mebutate included the size and location of the sBCCs, description of administration, local skin reactions, adverse events, and efficacy. Results Histopathologic analysis of a shave biopsy sample of suspicious lesions on the trunk confirmed nine sBCCs: a single sBCC in five patients and two well-separated lesions in each of the other two patients. Patients were treated at 10 to 14 days after shave biopsy; biopsy sites were not required to be fully healed. Lesions were either occluded using a standard adhesive bandage (n=6) or not occluded (n=3). All patients experienced local skin reactions that began on day 1 or 2 of treatment, peaked on days 2 to 7, and were largely resolved at 2 weeks. All sBCCs were clinically resolved on short-term follow-up at 2 to 4 weeks. Repeat biopsy of six lesion sites in four patients at 3 or 4 months confirmed histologic clearance. There were no clinically suspicious lesions in any patients at subsequent follow-up evaluations at 3-month intervals. The longest follow-up to date has been 14 months. Conclusion Ingenol mebutate gel, 0.05%, was efficacious and well tolerated for the treatment of biopsy-confirmed sBCCs on the trunk in seven patients. PMID:27574458

  12. BASAL CELL CARCINOMA IN THE AREA OF CHRONIC RADIODERMATITIS - 3 CASE REPORTS WITH LONG-TERM FOLLOW-UP.

    PubMed

    Wollina, U

    2016-05-01

    Chronic radiodermatitis is a delayed response of skin and underlying soft tissues after exposure to the ionizing radiation. It bears a risk of secondary tumors, in particular non-melanoma skin cancer (NMSC). We present 3 case reports of the patients with the development of BCC's ≥40 years after radiation of either childhood hemangioma or basal cell carcinoma. Patients with chronic radiodermatitis need a life-long dermatologic follow-up for early detection of NMSC and its consequent removal by Mohs surgery. PMID:27348159

  13. Combined reflectance confocal microscopy-optical coherence tomography for delineation of basal cell carcinoma margins: an ex vivo study

    NASA Astrophysics Data System (ADS)

    Iftimia, Nicusor; Peterson, Gary; Chang, Ernest W.; Maguluri, Gopi; Fox, William; Rajadhyaksha, Milind

    2016-01-01

    We present a combined reflectance confocal microscopy (RCM) and optical coherence tomography (OCT) approach, integrated within a single optical layout, for diagnosis of basal cell carcinomas (BCCs) and delineation of margins. While RCM imaging detects BCC presence (diagnoses) and its lateral spreading (margins) with measured resolution of ˜1 μm, OCT imaging delineates BCC depth spreading (margins) with resolution of ˜7 μm. When delineating margins in 20 specimens of superficial and nodular BCCs, depth could be reliably determined down to ˜600 μm, and agreement with histology was within about ±50 μm.

  14. Diagnosis and treatment of tracheal basal cell carcinoma in a Maine coon and long-term outcome.

    PubMed

    Green, Michael L; Smith, Julie; Fineman, Linda; Proulx, David

    2012-01-01

    A 6 yr old castrated male Maine coon presented with a 2 wk history of progressive dyspnea. Thoracic radiographs revealed a 2 cm diameter intratracheal mass at the level of the fourth rib. The tracheal mass was marginally excised via a combination of resection and anastomosis. Infiltrative basal cell carcinoma (BCC) with nodular osseous metaplasia was diagnosed. The thoracic trachea was then irradiated postoperatively for definitive treatment. The cat remained asymptomatic following surgical excision and radiation therapy for 32 mo when this report was written. The purpose of this report is to describe the treatment and long-term outcome of a Maine coon diagnosed with, and treated for, tracheal BCC. PMID:22611213

  15. An old friend with new skills: Imiquimod as novel inhibitor of Hedgehog signaling in basal cell carcinoma

    PubMed Central

    Gruber, Wolfgang; Frischauf, Anna-Maria; Aberger, Fritz

    2014-01-01

    Deregulated Hedgehog (HH)/GLI signaling plays an etiologic role in the initiation, progression and maintenance of many cancers. Small molecule targeting of HH signaling by inhibiting the essential pathway effector Smoothened (SMO) has proven exceptionally efficient for the treatment of advanced and metastatic basal cell carcinoma. That said, severe side effects, limited response rates, SMO-independent GLI signaling and rapid development of drug resistance limit the therapeutic success of SMO antagonists, urgently calling for the identification of alternative and additional strategies repressing oncogenic HH signaling. In this perspective article we highlight recent findings showing that the Toll-like receptor-7/8 (TLR7/8) agonist imiquimod (IMQ), an immune modulator approved for the treatment of basal cell carcinoma, can also act as a potent cell autonomous inhibitor of oncogenic HH signaling. Surprisingly, IMQ reduces HH signal strength independent of TLR signaling, via adenosine receptor (ADORA)/Adenylate cyclase (AC)/Protein kinase A (PKA) activation. We here highlight the molecular mechanisms of IMQ-mediated repression of HH/GLI and discuss the possible benefits as well as challenges of using ADORA agonists for the treatment of HH-associated cancer. PMID:25594066

  16. Reflectance confocal microscopy and dermoscopy for in vivo, non-invasive skin imaging of superficial basal cell carcinoma

    PubMed Central

    GHITA, MIHAELA A.; CARUNTU, CONSTANTIN; ROSCA, ADRIAN E.; KALESHI, HARILLAQ; CARUNTU, ANA; MORARU, LILIANA; DOCEA, ANCA OANA; ZURAC, SABINA; BODA, DANIEL; NEAGU, MONICA; SPANDIDOS, DEMETRIOS A.; TSATSAKIS, ARISTIDIS M.

    2016-01-01

    Superficial basal cell carcinoma (sBCC) is the second most frequent histological type of basal cell carcinoma (BCC), usually requiring a skin biopsy to confirm the diagnosis. It usually appears on the upper trunk and shoulders as erythematous and squamous lesions. Although it has a slow growth and seldom metastasizes, early diagnosis and management are of crucial importance in preventing local invasion and subsequent disfigurement. Dermoscopy is nowadays an indispensable tool for the dermatologist when evaluating skin tumors. Reflectance confocal microscopy (RCM) is a novel imaging technique that allows the non-invasive, in vivo quasi-microscopic morphological and dynamic assessment of superficial skin tumors. Moreover, it offers the advantage of performing infinite repeatable determinations to monitor disease progression and non-surgical treatment for sBCC. Herein, we present three lesions of sBCC evaluated using in vivo and non-invasive imaging techniques, emphasizing the usefulness of combining RCM with dermoscopy for increasing the diagnostic accuracy of sBCC. PMID:27123056

  17. Sonidegib for the treatment of advanced basal cell carcinoma: a comprehensive review of sonidegib and the BOLT trial with 12-month update.

    PubMed

    Chen, Leon; Silapunt, Sirunya; Migden, Michael R

    2016-09-01

    The Hedgehog inhibitors are promising alternative for patients with advanced basal cell carcinoma that are not amenable to radiotherapy or surgery. Sonidegib, also known as LDE225, is an orally available SMO antagonist that was recently approved by the US FDA for the treatment of patients with locally advanced basal cell carcinoma. This article will provide an overview of the pharmacology and pharmacokinetics of sonidegib and in-depth analysis of the BOLT trial with additional data from the 12-month update. The present challenges associated with Hedgehog inhibitors will also be discussed. PMID:27189494

  18. Confocal microscopy to guide Erbium:yttrium aluminum garnet laser ablation of basal cell carcinoma: an ex vivo feasibility study

    PubMed Central

    Larson, Bjorg A.; Chen, Chih-Shan Jason; Rajadhyaksha, Milind

    2013-01-01

    Abstract. For the removal of superficial and nodular basal cell carcinomas (BCCs), laser ablation provides certain advantages relative to other treatment modalities. However, efficacy and reliability tend to be variable because tissue is vaporized such that none is available for subsequent histopathological examination for residual BCC (and to confirm complete removal of tumor). Intra-operative reflectance confocal microscopy (RCM) may provide a means to detect residual tumor directly on the patient and guide ablation. However, optimization of ablation parameters will be necessary to control collateral thermal damage and preserve sufficient viability in the underlying layer of tissue, so as to subsequently allow labeling of nuclear morphology with a contrast agent and imaging of residual BCC. We report the results of a preliminary study of two key parameters (fluence, number of passes) vis-à-vis the feasibility of labeling and RCM imaging in human skin ex vivo, following ablation with an erbium:yttrium aluminum garnet laser. PMID:24045654

  19. Imiquimod 5% cream as an adjuvant pre-operative treatment for basal cell carcinoma of the periocular area.

    PubMed

    Bonilla, Rosa; Solebo, Ameenat L; Khandwala, Mona A; Jones, Carole A

    2014-12-01

    Despite national guidelines in the UK, patients with low-grade periocular malignancies frequently wait a period of months for their surgery. We have devised a protocol of pre-treatment with an immune modulator in an attempt to reduce the tumour size whilst patients await surgery. We present a case series of 5 patients who used Imiquimod 5% cream (Aldara) for 4 weeks as an adjuvant treatment prior to the excision of periocular nodular basal cell carcinomas. We also assessed tolerability of the cream using a visual analogue scale and recorded adverse events. Our patients had an average 22% reduction in tumour area (range 3.31%-39.64%) whilst awaiting surgery. The medication had a good tolerability profile and there were no ocular adverse events. Due to the promising results, this pilot study demonstrates the feasibility and value of a planned multicentre, prospective research project to further explore these initial findings. PMID:25255050

  20. Laser-induced fluorescence and reflectance spectroscopy for the discrimination of basal cell carcinoma from the surrounding normal skin tissue.

    PubMed

    Drakaki, E; Kaselouris, E; Makropoulou, M; Serafetinides, A A; Tsenga, A; Stratigos, A J; Katsambas, A D; Antoniou, C

    2009-01-01

    The object of this study was to investigate whether laser-induced skin autofluorescence (LIF) and/or light reflectance spectra could provide a useful contrast between basal cell carcinoma (BCC) tissues and the surrounding healthy skin. Unstained human skin samples, excised from humans undergoing biopsy examination, were irradiated with a nitrogen laser (lambda = 337 nm) for excitation of autofluorescence and a tungsten halogen lamp for the reflectance measurements. The ex vivo spectroscopic results were correlated with the histopathology images to distinguish the areas of BCC from those of the surrounding health skin. A simple spectral analysis technique was also applied for better skin diagnosis. In conclusion, it seems that LIF and reflectance spectra could be used to differentiate neoplastic from normal skin tissue using an appropriate classification model analysis. PMID:19365155

  1. Diagnosing basal cell carcinoma in vivo by near-infrared Raman spectroscopy: a Principal Components Analysis discrimination algorithm

    NASA Astrophysics Data System (ADS)

    Silveira, Landulfo, Jr.; Silveira, Fabrício L.; Bodanese, Benito; Pacheco, Marcos Tadeu T.; Zângaro, Renato A.

    2012-02-01

    This work demonstrated the discrimination among basal cell carcinoma (BCC) and normal human skin in vivo using near-infrared Raman spectroscopy. Spectra were obtained in the suspected lesion prior resectional surgery. After tissue withdrawn, biopsy fragments were submitted to histopathology. Spectra were also obtained in the adjacent, clinically normal skin. Raman spectra were measured using a Raman spectrometer (830 nm) with a fiber Raman probe. By comparing the mean spectra of BCC with the normal skin, it has been found important differences in the 800-1000 cm-1 and 1250-1350 cm-1 (vibrations of C-C and amide III, respectively, from lipids and proteins). A discrimination algorithm based on Principal Components Analysis and Mahalanobis distance (PCA/MD) could discriminate the spectra of both tissues with high sensitivity and specificity.

  2. Predictive variables for the biological behaviour of basal cell carcinoma of the face: relevance of morphometry of the nuclei.

    PubMed

    Appel, T; Bierhoff, E; Appel, K; von Lindern, J-J; Bergé, S; Niederhagen, B

    2003-06-01

    We did a morphometric analysis of 130 histological sections of basal cell carcinoma (BCC) of the face to find out whether morphometric variables in the structure of the nuclei of BCC cells could serve as predictors of the biological behaviour. We considered the following variables: maximum and minimum diameters, perimeter, nuclear area and five form factors that characterise and quantify the shape of a structure (axis ratio, shape factor, nuclear contour index, nuclear roundness and circumference ratio). We did a statistical analysis of primary and recurring tumours and four histology-based groups (multifocal superficial BCCs, nodular BCCs, sclerosing BCCs and miscellaneous forms) using a two-sided t test for independent samples. Multifocal superficial BCCs showed significantly smaller values for the directly measured variables (maximum and minimum diameters, perimeter and nuclear area). Morphometry could not distinguish between primary and recurring tumours. PMID:12804537

  3. Polarimetry based partial least square classification of ex vivo healthy and basal cell carcinoma human skin tissues.

    PubMed

    Ahmad, Iftikhar; Ahmad, Manzoor; Khan, Karim; Ikram, Masroor

    2016-06-01

    Optical polarimetry was employed for assessment of ex vivo healthy and basal cell carcinoma (BCC) tissue samples from human skin. Polarimetric analyses revealed that depolarization and retardance for healthy tissue group were significantly higher (p<0.001) compared to BCC tissue group. Histopathology indicated that these differences partially arise from BCC-related characteristic changes in tissue morphology. Wilks lambda statistics demonstrated the potential of all investigated polarimetric properties for computer assisted classification of the two tissue groups. Based on differences in polarimetric properties, partial least square (PLS) regression classified the samples with 100% accuracy, sensitivity and specificity. These findings indicate that optical polarimetry together with PLS statistics hold promise for automated pathology classification. PMID:27083851

  4. A case of multiple atypical nevi with co-localized Basal cell carcinomas on the scalp: insight into the pathogenesis.

    PubMed

    Ellis, Lixia Z; Cohen, Joel L; High, Whitney; Scholz, Theresa A

    2015-05-01

    The authors report a case of a 29-year-old female with multiple lesions on the scalp containing an atypical nevus and a co-localized basal cell carcinoma (BCC) in the same specimen. This is the first description of such a case in the literature. The peculiar co-existence of these 2 neoplasms in the same specimen in multiple skin lesions raises the possibility of an unknown mutation(s) that increases the risk of developing both conditions; and this case illustrates that the signaling pathways mediating the development of atypical nevi may interact with those associated with BCCs. Additionally, crosstalk between melanocytes and basal keratinocytes, which are both located in the basal layer of the epidermis, may contribute to the development of these coexisting neoplasms. PMID:25942670

  5. Surface-Enhanced Raman Spectroscopy Study of 4-ATP on Gold Nanoparticles for Basal Cell Carcinoma Fingerprint Detection

    NASA Astrophysics Data System (ADS)

    Quynh, Luu Manh; Nam, Nguyen Hoang; Kong, K.; Nhung, Nguyen Thi; Notingher, I.; Henini, M.; Luong, Nguyen Hoang

    2016-05-01

    The surface-enhanced Raman signals of 4-aminothiophenol (4-ATP) attached to the surface of colloidal gold nanoparticles with size distribution of 2 to 5 nm were used as a labeling agent to detect basal cell carcinoma (BCC) of the skin. The enhanced Raman band at 1075 cm-1 corresponding to the C-S stretching vibration in 4-ATP was observed during attachment to the surface of the gold nanoparticles. The frequency and intensity of this band did not change when the colloids were conjugated with BerEP4 antibody, which specifically binds to BCC. We show the feasibility of imaging BCC by surface-enhanced Raman spectroscopy, scanning the 1075 cm-1 band to detect the distribution of 4-ATP-coated gold nanoparticles attached to skin tissue ex vivo.

  6. Electronic brachytherapy for superficial and nodular basal cell carcinoma: a report of two prospective pilot trials using different doses

    PubMed Central

    Pons-Llanas, Olga; Candela-Juan, Cristian; Celada-Álvarez, Francisco Javier; Barker, Christopher A.; Tormo-Micó, Alejandro; Pérez-Calatayud, Jose; Botella-Estrada, Rafael

    2016-01-01

    Purpose Basal cell carcinoma (BCC) is a very common cancer in the Caucasian population. Treatment aims to eradicate the tumor with the lowest possible functional and aesthetic impact. Electronic brachytherapy (EBT) is a treatment technique currently emerging. This study aims to show the outcomes of two consecutive prospective pilot clinical trials using different radiation doses of EBT with Esteya® EB system for the treatment of superficial and nodular basal cell carcinoma. Material and methods Two prospective, single-center, non-randomized, pilot studies were conducted. Twenty patients were treated in each study with different doses. The first group (1) was treated with 36.6 Gy in 6 fractions of 6.1 Gy, and the second group (2) with 42 Gy in 6 fractions of 7 Gy. Cure rate, acute toxicity, and late toxicity related to cosmesis were analyzed in the two treatment groups. Results In group 1, a complete response in 90% of cases was observed at the first year of follow-up, whereas in group 2, the complete response was 95%. The differences with reference to acute toxicity and the cosmetic results between the two treatment groups were not statistically significant. Conclusions Our initial experience with Esteya® EB system to treat superficial and nodular BCC shows that a dose of 36.6 Gy and 42 Gy delivered in 6 fraction of 7 Gy achieves a 90% and 95% clinical cure rate at 1 year, respectively. Both groups had a tolerable toxicity and a very good cosmesis. The role of EBT in the treatment of BCC is still to be defined. It will probably become an established option for selected patients in the near future. PMID:26985197

  7. Discrimination between basal cell carcinoma and hair follicles in skin tissue sections by Raman micro-spectroscopy

    NASA Astrophysics Data System (ADS)

    Larraona-Puy, M.; Ghita, A.; Zoladek, A.; Perkins, W.; Varma, S.; Leach, I. H.; Koloydenko, A. A.; Williams, H.; Notingher, I.

    2011-05-01

    Skin cancer is the most common human malignancy and basal cell carcinoma (BCC) represents approximately 80% of the non-melanoma cases. Current methods of treatment require histopathological evaluation of the tissues by qualified personnel. However, this method is subjective and in some cases BCC can be confused with other structures in healthy skin, including hair follicles. In this preliminary study, we investigated the potential of Raman micro-spectroscopy (RMS) to discriminate between hair follicles and BCC in skin tissue sections excised during Mohs micrographic surgery (MMS). Imaging and diagnosis of skin sections was automatically generated using ' a priori'-built spectral model based on LDA. This model had 90 ± 9% sensitivity and 85 ± 9% specificity for discrimination of BCC from dermis and epidermis. The model used selected Raman bands corresponding to the largest spectral differences between the Raman spectra of BCC and the normal skin regions, associated mainly with nucleic acids and collagen type I. Raman spectra corresponding to the epidermis regions of the hair follicles were found to be closer to those of healthy epidermis rather than BCC. Comparison between Raman spectral images and the gold standard haematoxylin and eosin (H&E) histopathology diagnosis showed good agreement. Some hair follicle regions were misclassified as BCC; regions corresponded mainly to the outermost layer of hair follicle (basal cells) which are expected to have higher nucleic acid concentration. This preliminary study shows the ability of RMS to distinguish between BCC and other tissue structures associated to healthy skin which can be confused with BCC due to their similar morphology.

  8. Evaluation of Optical Coherence Tomography as a Means of Identifying Earlier Stage Basal Cell Carcinomas while Reducing the Use of Diagnostic Biopsy

    PubMed Central

    Schwartz, Michelle; Feldman, Eleanor; Bienenfeld, Amanda; Bieber, Amy K.; Ellis, Jeffery; Alapati, Usha; Lebwohl, Mark; Siegel, Daniel M.

    2015-01-01

    Objective: To determine the diagnostic accuracy of optical coherence tomography for basal cell carcinoma and the proportion of biopsies that could be avoided if optical coherence tomography is used to rule-in surgery. Design: Multicenter, prospective, observational study. Setting: Dermatology clinics. Participants: Consecutive patients with clinically challenging pink lesions suspicious for basal cell carcinoma. Measurements: Clinical, dermoscopic, and optical coherence tomography images were obtained for all subjects. At each stage, the clinician made a diagnosis (pathology + subtype if applicable), and assessed his/her own confidence in the diagnosis. Results: Optical coherence tomography significantly (p<0.01) improved sensitivity and specificity over clinical or dermoscopic evaluation. The percentage of correct diagnoses was 57.4 percent (clinical), 69.6 percent (dermoscopy), and 87.8 percent (optical coherence tomography). Optical coherence tomography significantly increased the certainty of diagnosis; clinicians indicated they were certain (>95% confident) in 17 percent of lesions examined clinically, in 38.6 percent examined with dermoscopy, and in 70 percent examined with optical coherence tomography. With the use of optical coherence tomography in the diagnosis of basal cell carcinoma, more than 1 in 3 patients could avoid a diagnostic biopsy. Conclusion: In a population of clinically challenging lesions, optical coherence tomography improved diagnostic certainty by a factor of four over clinical examination alone and improved diagnostic accuracy by 50 percent (57-88%). The addition of optical coherence tomography to other standard assessments can improve the false-positive rate and give a high degree of certainty for ruling in a positive diagnosis for basal cell carcinoma. A reduction of 36 percent in overall biopsies could be achieved by sending high certainty basal cell carcinoma positive optical coherence tomography diagnoses straight to surgery. PMID

  9. Arecoline decreases interleukin-6 production and induces apoptosis and cell cycle arrest in human basal cell carcinoma cells

    SciTech Connect

    Huang, Li-Wen; Hsieh, Bau-Shan; Cheng, Hsiao-Ling; Hu, Yu-Chen; Chang, Wen-Tsan; Chang, Kee-Lung

    2012-01-15

    Arecoline, the most abundant areca alkaloid, has been reported to decrease interleukin-6 (IL-6) levels in epithelial cancer cells. Since IL-6 overexpression contributes to the tumorigenic potency of basal cell carcinoma (BCC), this study was designed to investigate whether arecoline altered IL-6 expression and its downstream regulation of apoptosis and the cell cycle in cultured BCC-1/KMC cells. BCC-1/KMC cells and a human keratinocyte cell line, HaCaT, were treated with arecoline at concentrations ranging from 10 to 100 μg/ml, then IL-6 production and expression of apoptosis- and cell cycle progress-related factors were examined. After 24 h exposure, arecoline inhibited BCC-1/KMC cell growth and decreased IL-6 production in terms of mRNA expression and protein secretion, but had no effect on HaCaT cells. Analysis of DNA fragmentation and chromatin condensation showed that arecoline induced apoptosis of BCC-1/KMC cells in a dose-dependent manner, activated caspase-3, and decreased expression of the anti-apoptotic protein Bcl-2. In addition, arecoline induced progressive and sustained accumulation of BCC-1/KMC cells in G2/M phase as a result of reducing checkpoint Cdc2 activity by decreasing Cdc25C phosphatase levels and increasing p53 levels. Furthermore, subcutaneous injection of arecoline led to decreased BCC-1/KMC tumor growth in BALB/c mice by inducing apoptosis. This study demonstrates that arecoline has potential for preventing BCC tumorigenesis by reducing levels of the tumor cell survival factor IL-6, increasing levels of the tumor suppressor factor p53, and eliciting cell cycle arrest, followed by apoptosis. Highlights: ► Arecoline has potential to prevent against basal cell carcinoma tumorigenesis. ► It has more effectiveness on BCC as compared with a human keratinocyte cell line. ► Mechanisms involved including reducing tumor cells’ survival factor IL-6, ► Decreasing Cdc25C phosphatase, enhancing tumor suppressor factor p53, ► Eliciting G2/M

  10. Vismodegib, itraconazole and sonidegib as hedgehog pathway inhibitors and their relative competencies in the treatment of basal cell carcinomas.

    PubMed

    Wahid, Mohd; Jawed, Arshad; Mandal, Raju K; Dar, Sajad A; Khan, Saif; Akhter, Naseem; Haque, Shafiul

    2016-02-01

    The advent of more sophisticated studies published has clarified the understating of the root cause of various skin cancers or basal cell carcinomas (BCCs). The remarkable role is played by the comprehensive work done on unraveling the mechanism controlling the function of hedgehog (Hh) pathway. The defective Hh pathway has been found as the major cause for BCCs as activated Hh signaling within primary cilia plays a key role in the pathogenesis of BCCs. The BCC accounts for up to 40% of all cancers in the US, with growing incidences in other countries as well. Thus, it is considered to be utmost important by the researchers all over the world developing drugs for the treatment of skin cancers targeting Hh pathway. Fewer drugs like vismodegib, itraconazole and sonidegib have shown promising results inhibiting the awry function of Hh pathway resulting in treatment of different forms of skin cancers. These drugs have shown positive results but failed to prove their potential as expected. Vismodegib and sonidegib are better but fail in case of resistant tumors. This review article describes the mechanism of actions of these Hh pathway inhibitors and provides the rationale for their effectiveness/non-effectiveness for the treatment of metastatic or locally advanced BCC. PMID:26614022

  11. Immunohistochemical characterization of the differentiation state of basal cell carcinomas with special interest for infiltrating relapsing tumors.

    PubMed

    Barbaud, A; Simon, M; Parache, R M; Serre, G

    1998-01-01

    A retrospective histological and immunohistochemical study was performed on 66 basal cell carcinomas (BCC). To determine the differentiation stages of epithelial cells in these BCC, three monoclonal antibodies directed against cytokeratins K1, K2, K9 and K10-11 (EE21-06), to cytokeratins K1 to K19 (F12-19), and to corneodesmosin (G36-19) were used in indirect immunofluorescence on paraffin-embedded sections. Three histological groups of BCC with specific cytokeratin immunohistochemical features were distinguished: (1) superficial BCC were unlabelled, (2) nodular and variant (keratotic, adenoid) BCC showed an homogeneous labelling, and (3) infiltrative aggressive-type BCC showed a heterogeneous cell to cell labelling. Some nodular BCC cells presented characteristics of granular keratinocytes, i.e. they were labelled by the anticorneodesmosin antibody. All the clinically recurrent tumors were found to be of the infiltrative aggressive-type. If these aggressive forms of BCC were not identified by specific marker, their topographic patterns of labeling with antibodies directed to cytokeratins allowed them to be distinguished. We suggest that an immunohistochemical analysis with antibodies specific for different stages of keratinocyte differentiation is an efficient complement to histological diagnosis of BCC. PMID:9683887

  12. Discrimination of Basal Cell Carcinoma from Normal Skin Tissue Using High-Resolution Magic Angle Spinning 1H NMR Spectroscopy

    PubMed Central

    Mun, Je-Ho; Lee, Heonho; Yoon, Dahye; Kim, Byung-Soo; Kim, Moon-Bum; Kim, Shukmann

    2016-01-01

    High-resolution magic angle spinning nuclear magnetic resonance (HR-MAS NMR) spectroscopy is a useful tool for investigating the metabolism of various cancers. Basal cell carcinoma (BCC) is the most common skin cancer. However, to our knowledge, data on metabolic profiling of BCC have not been reported in the literature. The objective of the present study was to investigate the metabolic profiling of cutaneous BCC using HR-MAS 1H NMR spectroscopy. HR-MAS 1H NMR spectroscopy was used to analyze the metabolite profile and metabolite intensity of histopathologically confirmed BCC tissues and normal skin tissue (NST) samples. The metabolic intensity normalized to the total spectral intensities in BCC and NST was compared, and multivariate analysis was performed with orthogonal partial least-squares discriminant analysis (OPLS-DA). P values < 0.05 were considered statistically significant. Univariate analysis revealed 9 metabolites that showed statistically significant difference between BCC and NST. In multivariate analysis, the OPLS-DA models built with the HR-MAS NMR metabolic profiles revealed a clear separation of BCC from NST. The receiver operating characteristic curve generated from the results revealed an excellent discrimination of BCC from NST with an area under the curve (AUC) value of 0.961. The present study demonstrated that the metabolite profile and metabolite intensity differ between BCC and NST, and that HR-MAS 1H NMR spectroscopy can be a valuable tool in the diagnosis of BCC. PMID:26934749

  13. Fluorescein as a contrast agent for confocal intra-operative imaging of basal cell carcinomas: a preliminary ex vivo study

    NASA Astrophysics Data System (ADS)

    Sierra, Heidy; Qi, Qiaochu; Jiang, Angela; Taskar, Nikash; Rossi, Anthony; Rajadhyaksha, Milind

    2016-03-01

    When used for intra-operative imaging of residual basal cell carcinomas (BCCs), reflectance confocal microscopy (RCM) is limited to detection of relatively large tumors. Small tumors remain hidden in the surrounding bright dermis. Fluorescence confocal microscopy (FCM) may improve the sensitivity for detecting small tumors. Fluorescein enhances cell cytoplasm contrast in fluorescence confocal images, but has had limited clinical impact on imaging BCCs in vivo because there is a lack of a well-defined protocol (concentration and application time) that can be effectively used for intraoperative imaging. We conducted an ex vivo study, using discarded tissue from Mohs surgery and a benchtop FCM with 488nm wavelength for excitation and 521nm detection for imaging Concentrations of 6, 0.6 and 0.6 mM with immersion times of 5, 15, 30, and 60 seconds were repeatedly tested (total of 76 specimens).. The 0.6 mM and immersion time of 60 seconds showed that cellular cytoplasm can be labeled with controlled saturation and without leaving the yellow color on the surface of the tissue. Initial results show that, fluorescein may enhance cellular structures contrast relative to other normal dermal structures, improving the detection of small BCCs. This study provide an optimized set of parameters for subsequently testing of topical application in vivo for intraopertive imaging of BCCs.

  14. The sonic hedgehog-induced type 3 deiodinase facilitates tumorigenesis of basal cell carcinoma by reducing Gli2 inactivation.

    PubMed

    Luongo, Cristina; Ambrosio, Raffaele; Salzano, Salvatore; Dlugosz, Andrzej A; Missero, Caterina; Dentice, Monica

    2014-06-01

    Thyroid hormone (TH) is an important regulator of growth, development, and metabolism. Most of the active TH T3 is generated by peripheral TH metabolism mediated by the iodothyronine deiodinases. Type 3 deiodinase (D3) inactivates T3 via specific deiodination reactions. It is an oncofetal protein frequently expressed in neoplastic tissues and is a direct target of the sonic hedgehog (Shh) pathway in basal cell carcinomas (BCCs). However, the molecular mechanisms triggered by T3 in BCC are still mostly unrevealed. Here, we demonstrate that D3 action is critical in the proliferation and survival of BCC cells. D3 depletion or T3 treatment induce apoptosis of BCC cells and attenuate Shh signaling. This is achieved through a direct impairment of Gli2 protein stability by T3. T3 induces protein kinase A, which in turn destabilizes Gli2 protein via its C-terminal degron. Finally, in a mouse model of BCC, T3-topical treatment significantly reduces tumor growth. These results demonstrate the existence of a previously unrecognized cross talk between TH and Gli2 oncogene, providing functional and mechanistic evidence of the involvement of TH metabolism in Shh-induced cancer. TH-mediated Gli2 inactivation would be beneficial for therapeutically purposes, because the inhibition of Shh-Gli2 signaling is an attractive target for several anticancer drugs, currently in clinical trials. PMID:24693967

  15. In vivo detection of basal cell carcinoma: comparison of a reflectance confocal microscope and a multiphoton tomograph

    NASA Astrophysics Data System (ADS)

    Ulrich, Martina; Klemp, Marisa; Darvin, Maxim E.; König, Karsten; Lademann, Jürgen; Meinke, Martina C.

    2013-06-01

    The standard diagnostic procedure for basal cell carcinoma (BCC) is invasive tissue biopsy with time-consuming histological examination. To reduce the number of biopsies, noninvasive optical methods have been developed providing high-resolution skin examination. We present direct comparison of a reflectance confocal microscope (RLSM) and a multiphoton tomograph (MPT) for BCC diagnosis. Both systems are applied to nine patients prior to surgery, and the results are analyzed, including histological results. Both systems prove suitable for detecting typical characteristics of BCC in various stages. The RLSM allows large horizontal overview images to be obtained, enabling the investigator to find the regions of interest quickly, e.g., BCC nests. Elongated cells and palisading structures are easily recognized using both methods. Due to the higher resolution, changes in nucleus diameter or cytoplasm could be visualized with the MPT. Therefore, the nucleus diameter, nucleus/cytoplasm ratio, and cell density are estimated for normal and BCC cells using the MPT. The nucleus of elongated BCC cells is significantly longer than other measured normal skin cells, whereas the cell density and nucleus/cytoplasm ratio of BCC cannot be significantly distinguished from granular cells.

  16. Discriminating model for diagnosis of basal cell carcinoma and melanoma in vitro based on the Raman spectra of selected biochemicals

    NASA Astrophysics Data System (ADS)

    Silveira, Landulfo; Silveira, Fabrício Luiz; Bodanese, Benito; Zângaro, Renato Amaro; Pacheco, Marcos Tadeu T.

    2012-07-01

    Raman spectroscopy has been employed to identify differences in the biochemical constitution of malignant [basal cell carcinoma (BCC) and melanoma (MEL)] cells compared to normal skin tissues, with the goal of skin cancer diagnosis. We collected Raman spectra from compounds such as proteins, lipids, and nucleic acids, which are expected to be represented in human skin spectra, and developed a linear least-squares fitting model to estimate the contributions of these compounds to the tissue spectra. We used a set of 145 spectra from biopsy fragments of normal (30 spectra), BCC (96 spectra), and MEL (19 spectra) skin tissues, collected using a near-infrared Raman spectrometer (830 nm, 50 to 200 mW, and 20 s exposure time) coupled to a Raman probe. We applied the best-fitting model to the spectra of biochemicals and tissues, hypothesizing that the relative spectral contribution of each compound to the tissue Raman spectrum changes according to the disease. We verified that actin, collagen, elastin, and triolein were the most important biochemicals representing the spectral features of skin tissues. A classification model applied to the relative contribution of collagen III, elastin, and melanin using Euclidean distance as a discriminator could differentiate normal from BCC and MEL.

  17. Combination Nasolabial Transposition Flap and Island Pedicle Flap Following Mohs Surgery of Simultaneous Basal Cell Carcinomas Involving Both Nasal Alae

    PubMed Central

    Lee, Chae Young; Lee, Yeong Kyu; Choi, Kyu Won; Lee, Chae Wook; Kim, Ki Ho

    2008-01-01

    The nasal ala is a challenging area for surgical reconstruction, with thick sebaceous skin, the lack of an ample tissue reservoir, and an adjacent free margin. Numerous flaps have been reported for the repair of alae defects. A 71-year-old woman with simultaneous basal cell carcinomas involving both nasal alae was treated by Mohs micrographic surgery. The surgical defects measured 1.5×1.5 cm on the center of the right nasal ala and 1.0×1.0 cm on the left nasal ala, including the alar crease and rim. The right nasal ala was used as a nasolabial transposition flap and the left nasal ala was reconstructed by an island pedicle flap. The final shape and texture were satisfactory. The flaps survived and nasal symmetry was preserved. Combined nasolabial transposition and island pedicle flaps thus offer a superior esthetic and functional result owing to minimized tension. This may be a valuable reconstructive option in the repair of bilateral nasal alae defects.

  18. Fluorescence confocal mosaicing microscopy of basal cell carcinomas ex vivo: demonstration of rapid surgical pathology with high sensitivity and specificity

    NASA Astrophysics Data System (ADS)

    Gareau, Daniel S.; Karen, Julie K.; Dusza, Stephen W.; Tudisco, Marie; Nehal, Kishwer S.; Rajadhyaksha, Milind

    2009-02-01

    Mohs surgery, for the precise removal of basal cell carcinomas (BCCs), consists of a series of excisions guided by the surgeon's examination of the frozen histology of the previous excision. The histology reveals atypical nuclear morphology, identifying cancer. The preparation of frozen histology is accurate but labor-intensive and slow. Nuclear pathology can be achieved by staining with acridine orange (1 mM, 20 s) BCCs in Mohs surgical skin excisions within 5-9 minutes, compared to 20-45 for frozen histology. For clinical utility, images must have high contrast and high resolution. We report tumor contrast of 10-100 fold over the background dermis and submicron (diffraction limited) resolution over a cm field of view. BCCs were detected with an overall sensitivity of 96.6%, specificity of 89.2%, positive predictive value of 93.0% and negative predictive value of 94.7%. The technique was therefore accurate for normal tissue as well as tumor. We conclude that fluorescence confocal mosaicing serves as a sensitive and rapid pathological tool. Beyond Mohs surgery, this technology may be extended to suit other pathological needs with the development of new contrast agents. The technique reported here accurately detects all subtypes of BCC in skin excisions, including the large nodular, small micronodular, and tiny sclerodermaform tumors. However, this technique may be applicable to imaging tissue that is larger, more irregular and of various mechanical compliances with further engineering of the tissue mounting and staging mechanisms.

  19. Nonlinear spectral imaging of human normal skin, basal cell carcinoma and squamous cell carcinoma based on two-photon excited fluorescence and second-harmonic generation

    NASA Astrophysics Data System (ADS)

    Xiong, S. Y.; Yang, J. G.; Zhuang, J.

    2011-10-01

    In this work, we use nonlinear spectral imaging based on two-photon excited fluorescence (TPEF) and second harmonic generation (SHG) for analyzing the morphology of collagen and elastin and their biochemical variations in basal cell carcinoma (BCC), squamous cell carcinoma (SCC) and normal skin tissue. It was found in this work that there existed apparent differences among BCC, SCC and normal skin in terms of their thickness of the keratin and epithelial layers, their size of elastic fibers, as well as their distribution and spectral characteristics of collagen. These differences can potentially be used to distinguish BCC and SCC from normal skin, and to discriminate between BCC and SCC, as well as to evaluate treatment responses.

  20. Association between Toll-like receptor 7 Gln11Leu single-nucleotide polymorphism and basal cell carcinoma

    PubMed Central

    RUSSO, IRENE; CONA, CAMILLA; SAPONERI, ANDREA; BASSETTO, FRANCO; BALDO, VINCENZO; ALAIBAC, MAURO

    2016-01-01

    Non-melanoma skin cancers (NMSC) are the most common form of human skin cancer. The majority of NMSC are basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) with a BCC:SCC incidence ratio of 4:1 in immunocompetent patients. Toll-like receptors (TLRs) are transmembrane glycoproteins that recognize pathogen-associated molecular patterns and damage-associated molecular patterns, against which they activate the innate immune response and initiate the adaptive immune response. Genetic variations of these receptors can alter the immune system and are involved in evolution and susceptibility of various diseases, including cancer. Imiquimod, an agonist of TLR7, is applied topically in the treatment of premalignant and malignant skin disorders, in particular BCC. The high efficacy of this TLR7 agonist toward BCC supports a possible role of this receptor in the induction of BCC and, consequently, polymorphisms of this receptor could be responsible for a greater or lesser susceptibility to BCC. The aim of the present study was to evaluate whether the presence of the functional TLR7 rs179008/Gln11Leu promoter polymorphism conferred an increased susceptibility to BCC. A case-control study with 177 BCC cases and 158 controls was performed to highlight the possible association between this polymorphism and the susceptibility to BCC. As the TLR7 gene is localized on chromosome X, the allelic frequency of this polymorphism was analyzed separately in males and females. The analysis of the distribution of frequencies of wild-type TLR7 and variant TLR7 carrying the single-nucleotide polymorphism (SNP) rs179008 in patients with BCC and healthy subjects did not reveal any statistically significant difference between cases and controls. This study does not suggest the involvement of the SNP rs179008 of TLR7 in the susceptibility to BCC, but cannot exclude a role for TLR7 in BCC carcinogenesis considering the high efficacy of the TLR7 agonist, imiquimod, in the treatment of this

  1. History of Allergy and Atopic Dermatitis in Relation to Squamous Cell and Basal Cell Carcinoma of the Skin

    PubMed Central

    Cheng, Judy; Zens, M. Scot; Duell, Eric; Perry, Ann E.; Chapman, M. Shane; Karagas, Margaret R.

    2015-01-01

    Background Little is known about whether history of allergies and atopy are related to the occurrence of keratinocyte cancers. Thus, we evaluated the association between history of allergies and atopy and the incidence of squamous cell carcinoma (SCC) and early onset basal cell carcinoma (BCC). Methods As part of a population-based case-control study, interviews were conducted with 1,050 residents of New Hampshire (375 early onset BCC cases and 251 controls, 254 SCC cases and 432 controls). Odds ratios (ORs) of SCC and early onset BCC and history of allergy and atopic dermatitis were computed using logistic regression, while controlling for potential confounding factors. Results An overall inverse association was observed between a history of allergy and early onset BCC (OR 0.61, 95% CI 0.38-0.97) but not SCC (OR 1.18, 95% CI 0.78-1.79). Among women, we found reduced ORs of both early onset BCC and for SCC in relation to allergy history (early onset BCC OR 0.53, 95% CI 0.31-0.92 and SCC OR 0.59, 95% CI 0.29-1.19). Among men, we observed no clear association with early onset BCC (OR 0.87, 95% CI 0.39-1.99) and an increased risk of SCC (OR 1.58, 95% CI 0.93-2.69). Conclusion Our findings suggest that allergies and atopy may influence risk of early onset BCC and SCC, and that effects may be gender specific. Impact A deeper understanding of the immune mechanisms underlying allergies and atopy may provide new routes of preventing keratinocyte cancer. PMID:25670807

  2. Tea, coffee, and caffeine and early-onset basal cell carcinoma in a case-control study

    PubMed Central

    Ferrucci, Leah M.; Cartmel, Brenda; Molinaro, Annette M.; Leffell, David J.; Bale, Allen E.; Mayne, Susan T.

    2014-01-01

    Objectives Tea and coffee are hypothesized to play a protective role in skin carcinogenesis via bioactive components, such as caffeine, yet the epidemiologic evidence is mixed. Existing data supports an inverse association with basal cell carcinoma (BCC) more so than for melanoma or squamous cell carcinoma. To understand if tea, coffee, and caffeine are related to early-onset BCC, we evaluated data from 767 non-Hispanic Whites under age 40 in a case-control study in Connecticut. Methods BCC cases (n=377) were identified through Yale's Dermatopathology database. Controls (n=390) were randomly sampled from individuals in the same database with benign skin diagnoses and frequency matched to cases on age, gender, and biopsy site. Subjects completed an in-person interview including assessment of caffeinated coffee and hot tea. We calculated multivariate odds ratios (OR) and 95% confidence intervals (CIs) with unconditional logistic regression for regular consumption and frequency and duration measures. Results Combined regular consumption of caffeinated coffee plus hot tea was inversely associated with early-onset BCC (OR=0.60, 95% CI=0.38–0.96). Those in the highest category of caffeine from these sources had a 43% reduced risk of BCC compared to non-consumers (OR=0.57, 95% CI=0.34–0.95, p-trend=0.037). Conclusions Our findings suggest a modest protective effect for caffeinated coffee plus tea in relation to early-onset BCC that may, in part, be due to caffeine. This study adds to the growing body of literature suggesting potential health benefits from these beverages. PMID:24841641

  3. MK-4101, a Potent Inhibitor of the Hedgehog Pathway, Is Highly Active against Medulloblastoma and Basal Cell Carcinoma.

    PubMed

    Filocamo, Gessica; Brunetti, Mirko; Colaceci, Fabrizio; Sasso, Romina; Tanori, Mirella; Pasquali, Emanuela; Alfonsi, Romina; Mancuso, Mariateresa; Saran, Anna; Lahm, Armin; Di Marcotullio, Lucia; Steinkühler, Christian; Pazzaglia, Simonetta

    2016-06-01

    Aberrant activation of the Hedgehog (Hh) signaling pathway is implicated in the pathogenesis of many cancers, including medulloblastoma and basal cell carcinoma (BCC). In this study, using neonatally irradiated Ptch1(+/-) mice as a model of Hh-dependent tumors, we investigated the in vivo effects of MK-4101, a novel SMO antagonist, for the treatment of medulloblastoma and BCC. Results clearly demonstrated a robust antitumor activity of MK-4101, achieved through the inhibition of proliferation and induction of extensive apoptosis in tumor cells. Of note, beside antitumor activity on transplanted tumors, MK-4101 was highly efficacious against primary medulloblastoma and BCC developing in the cerebellum and skin of Ptch1(+/-) mice. By identifying the changes induced by MK-4101 in gene expression profiles in tumors, we also elucidated the mechanism of action of this novel, orally administrable compound. MK-4101 targets the Hh pathway in tumor cells, showing the maximum inhibitory effect on Gli1 MK-4101 also induced deregulation of cell cycle and block of DNA replication in tumors. Members of the IGF and Wnt signaling pathways were among the most highly deregulated genes by MK-4101, suggesting that the interplay among Hh, IGF, and Wnt is crucial in Hh-dependent tumorigenesis. Altogether, the results of this preclinical study support a therapeutic opportunity for MK-4101 in the treatment of Hh-driven cancers, also providing useful information for combination therapy with drugs targeting pathways cooperating with Hh oncogenic activity. Mol Cancer Ther; 15(6); 1177-89. ©2016 AACR. PMID:26960983

  4. Presence of ulceration, but not high risk zone location, correlates with unfavorable histopathological subtype in facial basal cell carcinoma

    PubMed Central

    Yalcin, Ozben; Sezer, Engin; Kabukcuoglu, Fevziye; Kilic, Ayse Irem; Sari, Ahu Gulcin; Cerman, Asli Aksu; Altunay, Ilknur Kivanc

    2015-01-01

    Background: Basal cell carcinoma (BCC) has been stratified into low- and high-risk according to their propensity for local recurrence. Risk factors for recurrence include histologic subtype, anatomic location (i.e. H-zone of the face), horizontal diameter, and patient health status. Objective: To assess if favorable (superficial, nodular, adenoid and trabecular) and unfavorable (infiltrative, morpheaform, micronodular, metatypical, basosquamous) histopathological subtypes of BCC do correlate with anatomic location on the face (facial high risk versus non-high risk zones). Methods: Histopathological specimens of all facial BCCs, which were histopathologically diagnosed in the Pathology Department of Şişli Etfal Training Hospital, between the years 2008 and 2014 were retrospectively studied. Histopathological aggressive and non-aggressive subtypes as well as the presence of ulceration were correlated with facial high-risk (i.e. H-zone) and low risk anatomical locations. Results: Of 184 BCC of unfavorable subtypes, 101 cases were identified in facial high-risk anatomical region (H-zone) compared to 83 cases at non H-zone (P = 0.553). On the other hand the ulceration rate was significantly higher for unfavorable histological subtypes than in the favorable histopathological subtype group (P = 0.042). Regarding anatomic site, ulceration frequency was not significantly different for the H-versus non-high risk zones (P = 0.335). Conclusions: A correlation of unfavorable histopathological subtype of BCC and high-risk anatomical location (i.e. H-zone) was not observed in our study. Our results however confirmed a significantly higher rate of ulceration in the subgroup of aggressive histopathological BCC forms. Thus, factors other than histopathological subtype (such as narrow excision margin related to difficult surgical technique in H-zone, microcirculation, vasculature and host inflammatory response) may be responsible for the high recurrence rate in facial H

  5. Effects of Combined Treatment With Arsenic Trioxide and Itraconazole in Patients With Refractory Metastatic Basal Cell Carcinoma

    PubMed Central

    Ally, Mina S.; Ransohoff, Katherine; Sarin, Kavita; Atwood, Scott X.; Rezaee, Melika; Bailey-Healy, Irene; Kim, Jynho; Beachy, Philip A.; Chang, Anne Lynn S.; Oro, Anthony; Tang, Jean Y.; Colevas, A. Dimitrios

    2016-01-01

    IMPORTANCE Tumor resistance is an emerging problem for Smoothened (SMO) inhibitor–treated metastatic basal cell carcinoma (BCC). Arsenic trioxide and itraconazole antagonize the hedgehog (HH) pathway at sites distinct from those treated by SMO inhibitors. OBJECTIVE To determine whether administration of intravenous arsenic trioxide and oral itraconazole in patients with metastatic BCC is associated with a reduction in GLI1 messenger RNA expression in tumor and/or normal skin biopsy samples. DESIGN, SETTING, AND PARTICIPANTS Five men with metastatic BCC who experienced relapse after SMO inhibitor treatment underwent intravenous arsenic trioxide treatment for 5 days, every 28 days, and oral itraconazole treatment on days 6 to 28. Data were collected from April 10 to November 14, 2013. Follow-up was completed on October 3, 2015, and data were analyzed from June 5 to October 6, 2015. MAIN OUTCOMES AND MEASURES The primary outcome was the change in messenger RNA levels of the GLI family zinc finger 1 (GLI1) gene (HH-pathway target gene) in biopsy specimens of normal skin or BCC before and after treatment. Secondary objectives were evaluation of tumor response and tolerability. RESULTS Of the 5 patients (mean [SD] age, 52 [9] years; age range, 43-62 years), 3 completed 3 cycles of treatment and 2 discontinued treatment early owing to disease progression or adverse events. Adverse effects included grade 2 transaminitis and grade 4 leukopenia with a grade 3 infection. Overall, arsenic trioxide and itraconazole reduced GLI1 messenger RNA levels by 75% from baseline (P < .001). The best overall response after 3 treatment cycles was stable disease in 3 patients. CONCLUSIONS AND RELEVANCE Targeting the HH pathway with sequential arsenic trioxide and itraconazole treatment is a feasible treatment for metastatic BCC. Although some patients experienced stable disease for 3 months, none had tumor shrinkage, which may be owing to transient GLI1 suppression with sequential dosing

  6. Diagnosis of Basal Cell Carcinoma by Reflectance Confocal Microscopy: Study Design and Protocol of a Randomized Controlled Multicenter Trial

    PubMed Central

    Alkemade, Hans A.C; Maessen-Visch, Birgitte; Hendriks, Jan C.M; van Erp, Piet E.J; Adang, Eddy M.M; Gerritsen, Marie-Jeanne P

    2016-01-01

    Background Skin cancer, including basal cell carcinoma (BCC), has become a major health care problem. The limitations of a punch biopsy (at present the gold standard) as diagnostic method together with the increasing incidence of skin cancer point out the need for more accurate, cost-effective, and patient friendly diagnostic tools. In vivo reflectance confocal microscopy (RCM) is a noninvasive imaging technique that has great potential for skin cancer diagnosis. Objective To investigate whether in vivo RCM can correctly identify the subtype of BCC and to determine the cost-effectiveness of RCM compared with punch biopsy (usual care). Study design: Randomized controlled multicenter trial. Methods On the basis of 80% power and an alpha of 0.05, 329 patients with lesions clinically suspicious for BCC will be included in this study. Patients will be randomized for RCM or for a punch biopsy (usual care). When a BCC is diagnosed, surgical excision will follow and a follow-up visit will be planned 3 months later. Several questionnaires will be filled in (EQ-5D, EQ-5D VAS, iMTA PCQ, and TSQM-9). We will perform statistical analysis, cost-effectiveness, and patient outcome analysis after data collection. Results This research started in January 2016 and is ethically approved. We expect to finish this study at the end of 2018. Conclusions In this study, we will investigate whether RCM is at least as good in identifying BCC subtypes as conventional pathological investigation of skin biopsies. Anticipating that RCM is found to be a cost-effective alternative, it saves on direct medical consumption like labor of the pathologist and other medical personnel as well as materials related to treatment failure with at least equal effectiveness. Trial Registration Clinicaltrials.gov NCT02623101; https://clinicaltrials.gov/ct2/show/NCT02623101 (Archived by WebCite at http://www.webcitation.org/6id54WQa2) PMID:27363577

  7. Basal Cell Carcinoma

    MedlinePlus

    ... measures Outcomes in Dermatology Pilot Affinity partner programs Education Online Learning Center MOC MOC overview Component parts Meeting your requirements MOC costs MOC webinars and videos FAQs MOC resources Recognized ...

  8. Basal cell nevus syndrome - close-up of palm (image)

    MedlinePlus

    ... skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas. This ... close-up of the pits found in the palm of an individual with basal cell nevus syndrome.

  9. Sonic hedgehog signaling in Basal cell nevus syndrome.

    PubMed

    Athar, Mohammad; Li, Changzhao; Kim, Arianna L; Spiegelman, Vladimir S; Bickers, David R

    2014-09-15

    The hedgehog (Hh) signaling pathway is considered to be a major signal transduction pathway during embryonic development, but it usually shuts down after birth. Aberrant Sonic hedgehog (Shh) activation during adulthood leads to neoplastic growth. Basal cell carcinoma (BCC) of the skin is driven by this pathway. Here, we summarize information related to the pathogenesis of this neoplasm, discuss pathways that crosstalk with Shh signaling, and the importance of the primary cilium in this neoplastic process. The identification of the basic/translational components of Shh signaling has led to the discovery of potential mechanism-driven druggable targets and subsequent clinical trials have confirmed their remarkable efficacy in treating BCCs, particularly in patients with nevoid BCC syndrome (NBCCS), an autosomal dominant disorder in which patients inherit a germline mutation in the tumor-suppressor gene Patched (Ptch). Patients with NBCCS develop dozens to hundreds of BCCs due to derepression of the downstream G-protein-coupled receptor Smoothened (SMO). Ptch mutations permit transposition of SMO to the primary cilium followed by enhanced expression of transcription factors Glis that drive cell proliferation and tumor growth. Clinical trials with the SMO inhibitor, vismodegib, showed remarkable efficacy in patients with NBCCS, which finally led to its FDA approval in 2012. PMID:25172843

  10. Human sunlight-induced basal-cell-carcinoma-associated dendritic cells are deficient in T cell co-stimulatory molecules and are impaired as antigen-presenting cells.

    PubMed Central

    Nestle, F. O.; Burg, G.; Fäh, J.; Wrone-Smith, T.; Nickoloff, B. J.

    1997-01-01

    Immune surveillance of skin cancer involves the stimulation of effector T cells by tumor-derived antigens and antigen-presenting cells (APCs). An effective APC must not only display processed antigen in the context of MHC molecules but also express co-stimulatory molecules that are required to fully activate T cells. One of the most common cutaneous neoplasms is basal cell carcinoma. To investigate expression of the co-stimulatory molecules CD80 (B7-1) and CD86 (B7-2) on tumor-associated dendritic cells (TADCs), cryosections from basal cell carcinomas were immunostained. In basal cell carcinomas, only 1 to 2% of intratumor and 5 to 10% of peritumor APCs expressed CD80 or CD86. In contrast, biopsies of immunological/inflammatory dermatoses revealed that 38 to 73% of APCs expressed CD80 and CD86. To further evaluate their phenotype and function, TADCs were isolated from tissue samples of basal cell carcinomas; they were non-adherent to plastic, displayed a typical dendritic morphology, and expressed high levels of major histocompatibility class II molecules on their surface. When TADCs were compared with dendritic cells from blood for presentation of superantigens (staphylococcal enterotoxins A and B) to resting autologous T cells, TADCs were consistently weaker stimulators of T cell proliferation than blood dendritic cells. When analyzed by flow cytometry, TADCs expressed high levels of HLA-DR, but only 5 to 10% co-expressed CD80 or CD86. A 3-day culture in granulocyte/macrophage colony-stimulating factor-containing medium partially reconstituted the TADC expression of CD80 and CD86 as well as their immunostimulatory capacity. Thus, in this common skin cancer, although there are prominent collections of HLA-DR-positive APCs in and around tumor cells, the TADCs are deficient in important co-stimulatory molecules as well as being weak stimulators of T cell proliferation. The paucity of co-stimulatory molecule expression and functional activity of TADCs may explain why

  11. [Basal cell nevus syndrome. Presentation of 2 cases. 1 associated with medulloblastoma].

    PubMed

    Balsa, R E; Ingratta, S M; Galeano, F A; Raffaeli, C A; Drut, R; Vestfrid, M

    1985-01-01

    A case of nevoid basal-cell carcinoma syndrome in a four years old girl with preceding familiar history is reported. In her epithelioma father numerous basocellular, milia cysts, mandibular cysts, dentition disorders, brain falx calcifica ted and hiperkeratosis of the sole of the feet were described. Clinically, the girl presented initial migraine and vomits together with macrocephalus, bossing forehead, hypertelorism, physical disorders, retarded maturation, "keel" thorax, genu recurvatum, hallux valgus, hammerfinger, pigmented nevus and hyperkeratosis of the sole of the feet. Radiologically diastasis of the skull suture with jagged image, endocranial hypertension, signs of macrocephalus of the facial bones, calcification of the brain falx, bridge of the sella turcica, bifid ribs and fusion of the ribs was observed. The axial computed tomography showed calcification of the vermix cerebelosus and severe hydrocephalus suggesting the presence of an occupant mass. After total surgical removal of the mass, the histological examination revealed a medulloblastoma. The skin biopsy of a cutaneous nevic element showed a basal-cell epithelioma. With the exception of an ovarian fibroma and fusion of the vertebras non appreciable because of the age. With the exception of the ovarian fibroma and the fusion of the vertebras, the patient showed the same characteristics as those described in the classification of Gorlin. The importance of this paper communication lie on the preceding familiar history, infrequency, compromise of different systems, malignant tendency of the cutaneous lesions and frequent association with non cutaneous neoplasias. PMID:3887060

  12. A benign or malignant eyelid lump – can you tell? An unusual collision tumour highlighting the difficulty differentiating a hidrocystoma from a basal cell carcinoma

    PubMed Central

    Jayaprakasam, Anuradha; Rene, Cornelius

    2012-01-01

    Hidrocystoma and basal cell carcinoma (BCC) are common eyelid lesions. The former is benign while the latter is malignant and can cause significant destruction of the adnexal structures, orbital invasion and visual loss. The authors describe a case of a 76-year-old female with a slow growing right upper lid lesion which was diagnosed as a hidrocystoma but excision biopsy revealed a collision tumour comprised of a BCC abutting a hidrocystoma in the same lesion. Cystic BCC can masquerade as hidrocystoma but there are no previous case reports of BCC coexisting with hidrocystoma in the same lesion. This case highlights the fact that apparently benign lesions, such as hidrocystomas, may actually be malignant or coexist with malignant pathology. Clinicians should have a low threshold for appropriate excision biopsy and histological examination of such lesions, especially if there are sinister features, such as lash loss, induration, pigmentation or a pearly appearance. PMID:22744259

  13. Using a Hydroquinone/Tretinoin-based Skin Care System Before and After Electrodesiccation and Curettage of Superficial Truncal Basal Cell Carcinoma

    PubMed Central

    James, Spencer; Brian, Berman; Suzanne, Bruce; Lisa, Parr; Kenneth, Gross

    2009-01-01

    Objective: To evaluate the efficacy and tolerability of using a 4% hydroquinone/0.05% tretinoin skin care system compared with standard treatment of cleanser plus healing ointment to enhance aesthetic outcomes resulting from electrodesiccation and curettage treatment for superficial truncal basal cell carcinomas. Design: Multicenter, investigator-masked, randomized, parallel-group study. Patients received either the hydroquinone/tretinoin system or the standard treatment twice daily for three weeks before and after electrodesiccation and curettage (postelectrodesiccation and curettage, lesions received standard treatment until reepithelialization was >75 percent; assigned treatment regimens then resumed). Setting: Patients attending academic, institutional, and private dermatology clinics. Participants: 51 patients with 1 to 3 superficial truncal basal cell carcinomas. Measurements: The primary efficacy outcome was the incidence of treatment success for scar cosmesis, defined as a global assessment of excellent or good wound appearance (on a scale of excellent, good, fair, and poor), as evaluated by the investigators. After the end of the study, seven expert masked graders (dermatologists or plastic surgeons) reviewed the photographs from all of the lesions and also evaluated global assessment. Results: The incidence of treatment success in the hydroquinone/tretinoin and standard treatment groups was 72 percent versus 63 percent according to the masked investigators and 45 to 68 percent versus 20 to 44 percent, respectively, according to the seven expert masked graders. All the expert graders reported a higher incidence of treatment success with the hydroquinone/ tretinoin system than with standard treatment and this difference was statistically significant for five of the seven graders. Conclusion: The adjunctive use of the hydroquinone/tretinoin skin care system may offer enhanced aesthetic results postelectrodesiccation and curettage compared with standard

  14. Basal cell skin cancer

    MedlinePlus

    ... occur in younger people who have had extensive sun exposure. You are more likely to get basal cell ... severe sunburns early in life Long-term daily sun exposure (such as the sun exposure received by people ...

  15. Heat shock protein HSP 27 is expressed in all types of basal cell carcinoma in low and high risk UV exposure groups.

    PubMed

    Bayerl, C; Dorfner, B; Rzany, B; Fuhrmann, E; Coelho, C C; Jung, E G

    1999-06-01

    HSP 27, a marker of differentiation and proliferation, helps the cell in repair processes after environmental stress such as heat, UV-irradiation and oxidative stress. So far, its role on carcinogenesis is not yet understood. HSP 27 was studied immunohistochemically in different types of primary, untreated basal cell carcinoma (BCC) in two populations with different UV exposure habits: descendents from Germany, "Pommern", living in Brazil (Pommeranos, n = 15), rural workers with high UV exposure and Germans from the region Baden-Württemberg with indoor jobs (n = 14). Age distribution and type of BCC were similar between the Pommeranos and the Germans. Specimens of BCC (n = 15 solid, n = 6 keratotic, n = 4 adenoid, n = 4 fibrotic) were evaluated in cryostat and paraffin sections for HSP 27, HSP 72 and bcl-2. In Pommeranos in Brazil (UV high risk group) versus (vs) inhabitants from Baden-Württemberg (UV low risk group), HSP 27 was expressed in 93% vs 79% in all histological subclasses, HSP 72 in 20% vs 21% and bcl-2 in 93 % in both groups. Antibodies against HSP 27, but not HSP 72, labeled BCC of all types. In contrast to the lack of HSP 27 in squamous cell carcinoma reported in the literature, we found HSP 27 and bcl-2 positive cells in BCC which might characterize the tumour as relatively benign and slow progressing. PMID:10356405

  16. In vivo assessment of optical properties of basal cell carcinoma and differentiation of BCC subtypes by high-definition optical coherence tomography.

    PubMed

    Boone, Marc; Suppa, Mariano; Miyamoto, Makiko; Marneffe, Alice; Jemec, Gregor; Del Marmol, Veronique

    2016-06-01

    High-definition optical coherence tomography (HD-OCT) features of basal cell carcinoma (BCC) have recently been defined. We assessed in vivo optical properties (IV-OP) of BCC, by HD-OCT. Moreover their critical values for BCC subtype differentiation were determined. The technique of semi-log plot whereby an exponential function becomes linear has been implemented on HD-OCT signals. The relative attenuation factor (µraf ) at different skin layers could be assessed.. IV-OP of superficial BCC with high diagnostic accuracy (DA) and high negative predictive values (NPV) were (i) decreased µraf in lower part of epidermis and (ii) increased epidermal thickness (E-T). IV-OP of nodular BCC with good to high DA and NPV were (i) less negative µraf in papillary dermis compared to normal adjacent skin and (ii) significantly decreased E-T and papillary dermal thickness (PD-T). In infiltrative BCC (i) high µraf in reticular dermis compared to normal adjacent skin and (ii) presence of peaks and falls in reticular dermis had good DA and high NPV. HD-OCT seems to enable the combination of in vivo morphological analysis of cellular and 3-D micro-architectural structures with IV-OP analysis of BCC. This permits BCC sub-differentiation with higher accuracy than in vivo HD-OCT analysis of morphology alone. PMID:27375943

  17. In vivo assessment of optical properties of basal cell carcinoma and differentiation of BCC subtypes by high-definition optical coherence tomography

    PubMed Central

    Boone, Marc; Suppa, Mariano; Miyamoto, Makiko; Marneffe, Alice; Jemec, Gregor; Del Marmol, Veronique

    2016-01-01

    High-definition optical coherence tomography (HD-OCT) features of basal cell carcinoma (BCC) have recently been defined. We assessed in vivo optical properties (IV-OP) of BCC, by HD-OCT. Moreover their critical values for BCC subtype differentiation were determined. The technique of semi-log plot whereby an exponential function becomes linear has been implemented on HD-OCT signals. The relative attenuation factor (µraf) at different skin layers could be assessed.. IV-OP of superficial BCC with high diagnostic accuracy (DA) and high negative predictive values (NPV) were (i) decreased µraf in lower part of epidermis and (ii) increased epidermal thickness (E-T). IV-OP of nodular BCC with good to high DA and NPV were (i) less negative µraf in papillary dermis compared to normal adjacent skin and (ii) significantly decreased E-T and papillary dermal thickness (PD-T). In infiltrative BCC (i) high µraf in reticular dermis compared to normal adjacent skin and (ii) presence of peaks and falls in reticular dermis had good DA and high NPV. HD-OCT seems to enable the combination of in vivo morphological analysis of cellular and 3-D micro-architectural structures with IV-OP analysis of BCC. This permits BCC sub-differentiation with higher accuracy than in vivo HD-OCT analysis of morphology alone. PMID:27375943

  18. Monte Carlo modeling of in vivo protoporphyrin IX fluorescence and singlet oxygen production during photodynamic therapy for patients presenting with superficial basal cell carcinomas

    NASA Astrophysics Data System (ADS)

    Valentine, Ronan M.; Brown, C. Tom A.; Moseley, Harry; Ibbotson, Sally; Wood, Kenny

    2011-04-01

    We present protoporphyrin IX (PpIX) fluorescence measurements acquired from patients presenting with superficial basal cell carcinoma during photodynamic therapy (PDT) treatment, facilitating in vivo photobleaching to be monitored. Monte Carlo (MC) simulations, taking into account photobleaching, are performed on a three-dimensional cube grid, which represents the treatment geometry. Consequently, it is possible to determine the spatial and temporal changes to the origin of collected fluorescence and generated singlet oxygen. From our clinical results, an in vivo photobleaching dose constant, β of 5-aminolaevulinic acid-induced PpIX fluorescence is found to be 14 +/- 1 J/cm2. Results from our MC simulations suggest that an increase from our typical administered treatment light dose of 75-150 J/cm2 could increase the effective PDT treatment initially achieved at a depth of 2.7-3.3 mm in the tumor, respectively. Moreover, this increase reduces the surface PpIX fluorescence from 0.00012 to 0.000003 of the maximum value recorded before treatment. The recommendation of administrating a larger light dose, which advocates an increase in the treatment time after surface PpIX fluorescence has diminished, remains valid for different sets of optical properties and therefore should have a beneficial outcome on the total treatment effect.

  19. Is There a Relationship between the Stratum Corneum Thickness and That of the Viable Parts of Tumour Cells in Basal Cell Carcinoma?

    PubMed Central

    Foss, Olav A.; Mjønes, Patricia; Fismen, Silje; Christensen, Eidi

    2016-01-01

    Basal cell carcinoma (BCC) is an invasive epithelial skin tumour. The thickness of the outermost epidermal layer of the skin, the stratum corneum (SC), influences drug uptake and penetration into tumour and may thereby affect the response of BCC to topical treatment. The aim was to investigate a possible relationship between the thickness of the SC and that of the viable part of BCC. Histopathological evaluations of the corresponding SC and viable tumour thickness measurements of individual BCCs of different subtypes were explored. A total of 53 BCCs from 46 patients were studied. The median tumour thickness was 1.7 mm (0.8–3.0 mm), with a significant difference between subtypes (p < 0.001). The SC had a median thickness of 0.3 mm (0.2–0.4 mm), with no difference between tumour subtypes (p = 0.415). Additionally, no significant association between the thickness of the SC and that of the viable part of the tumour was demonstrated (p = 0.381). In conclusion our results indicate that SC thickness is relatively constant in BCC. PMID:26942011

  20. A case-control study of MC1R variants in Greek patients with basal cell carcinoma: increased risk independently of pigmentary characteristics.

    PubMed

    Dessinioti, Clio; Sypsa, Vana; Kypreou, Katerina; Dimisianos, Gerasimos; Kodela, Elisavet; Nikolaou, Vasiliki; Antoniou, Christina; Stratigos, Alexander J

    2015-06-01

    Melanocortin 1 receptor (MC1R) gene variants are a major contributor to pigmentation characteristics and the modulation of sporadic basal cell carcinoma (BCC) risk. This is a hospital-based, case-control study to investigate the association of MC1R variants and pigmentary characteristics with the risk of BCC development in a Southern European population in Greece. In total, 141 patients with BCC and 166 controls were studied. Increased BCC risk was found for the presence of 2 or more MC1R variants (OR:3.07, 95% CI:1.13-8.34), or 2 or more variants of which at least 1 was major function (OR:7.15, 95% CI:1.37-5.52), after adjustment for the 'red hair colour' (RHC) phenotype. Increased BCC risk persisted in the presence of 2 or more MC1R variants (OR:4.15, 95% CI:1.35-12.72), after adjustment for potential confounding factors including skin color (P:0.237) and atypical nevi (OR:9.57, 95% CI:2.19-41.81, P:0.003). MC1R genotype is a risk factor for the development of BCC in Greek patients independently of pigmentary characteristics, and the combination of MC1R variants may modulate this risk. PMID:25809071

  1. Motion tracking to enable pre-surgical margin mapping in basal cell carcinoma using optical imaging modalities: initial feasibility study using optical coherence tomography

    NASA Astrophysics Data System (ADS)

    Duffy, M.; Richardson, T. J.; Craythorne, E.; Mallipeddi, R.; Coleman, A. J.

    2014-02-01

    A system has been developed to assess the feasibility of using motion tracking to enable pre-surgical margin mapping of basal cell carcinoma (BCC) in the clinic using optical coherence tomography (OCT). This system consists of a commercial OCT imaging system (the VivoSight 1500, MDL Ltd., Orpington, UK), which has been adapted to incorporate a webcam and a single-sensor electromagnetic positional tracking module (the Flock of Birds, Ascension Technology Corp, Vermont, USA). A supporting software interface has also been developed which allows positional data to be captured and projected onto a 2D dermoscopic image in real-time. Initial results using a stationary test phantom are encouraging, with maximum errors in the projected map in the order of 1-2mm. Initial clinical results were poor due to motion artefact, despite attempts to stabilise the patient. However, the authors present several suggested modifications that are expected to reduce the effects of motion artefact and improve the overall accuracy and clinical usability of the system.

  2. Use of Drawing Lithography-Fabricated Polyglycolic Acid Microneedles for Transdermal Delivery of Itraconazole to a Human Basal Cell Carcinoma Model Regenerated on Mice

    NASA Astrophysics Data System (ADS)

    Zhang, Jennifer; Wang, Yan; Jin, Jane Y.; Degan, Simone; Hall, Russell P.; Boehm, Ryan D.; Jaipan, Panupong; Narayan, Roger J.

    2016-04-01

    Itraconazole is a triazole agent that is routinely used for treatment of nail infections and other fungal infections. Recent studies indicate that itraconazole can also inhibit the growth of basal cell carcinoma (BCC) through suppression of the Sonic Hedgehog (SHH) signaling pathway. In this study, polyglycolic acid microneedle arrays and stainless steel microneedle arrays were used for transdermal delivery of itraconazole to a human BCC model which was regenerated on mice. One-by-four arrays of 642- μm-long polyglycolic acid microneedles with sharp tips were prepared using injection molding and drawing lithography. Arrays of 85 stainless steel 800- μm-tall microneedles attached to syringes were obtained for comparison purposes. Skin grafts containing devitalized split-thickness human dermis that had been seeded with human keratinocytes transduced to express human SHH protein were sutured to the skin of immunodeficient mice. Mice with this human BCC model were treated daily for 2 weeks with itraconazole dissolved in 60% dimethylsulfoxane and 40% polyethylene glycol-400 solution; transdermal administration of the itraconazole solution was facilitated by either four 1 × 4 polyglycolic acid microneedle arrays or stainless steel microneedle arrays. The epidermal tissues treated with polyglycolic acid microneedles or stainless steel microneedles were markedly thinner than that of the control (untreated) graft tissue. These preliminary results indicate that microneedles may be used to facilitate transdermal delivery of itraconazole for localized treatment of BCC.

  3. Localization of telomerase hTERT protein in frozen sections of basal cell carcinomas (BCC) and tumor margin tissues.

    PubMed

    Fabricius, Eva-Maria; Kruse-Boitschenko, Ute; Khoury, Reem; Wildner, Gustav-Paul; Raguse, Jan-Dirk; Klein, Martin; Hoffmeister, Bodo

    2009-12-01

    In previous studies we demonstrated telomerase activity in frozen tissues from BCC and their tumor-free margins by the PCR ELISA. In this study we examined in the same frozen sections immunohistochemical presence of hTERT in the nucleus. After fixation in acetone and methanol followed by steaming we used for visualization the antigen-antibody reactions by APAAP. This was the best method of preparation of the frozen sections in our preliminary hTERT-study with squamous cell carcinomas. This study was supplemented with antibodies against Ki-67, nucleolin, common leucocyte antigen CD45 and mutated p53. The immunoreactive scores were determined and included the comparison with telomerase activity. The investigation of hTERT expression was performed in the tissues of 41 patients with BCC and control tissues of 14 patients without tumor. Eleven commercial antibodies were used for a nuclear staining of hTERT expression. With the anti-hTERT antibodies we looked for both satisfactory distribution and intensity of immunohistochemical labeling in the carcinomas and in the squamous epithelia of the tumor centers, of the tumor-free margins and of the control tissues. The hTERT expression in the BCC was distributed heterogeneously. The score values established by the anti-hTERT antibodies used were variably or significantly increased. In the stroma they tended to be negative, so we disregarded stroma hTERT. Proof of hTERT did not differ uniformly from telomerase activity. We compared the high with the lower median hTERT values in the Kaplan-Meier curve. Patients with lower hTERT scores in the center or tumor margin as shown by some of the antibodies suffered relapse earlier. Finally, we compared the hTERT expression in BCC tissues with the hTERT scores in HNSCC tissues from our previous study. Only one anti-hTERT antibody (our Ab 7) yielded significantly higher scores in BCC than in HNSCC. PMID:19885561

  4. The multicentre south European study 'Helios'. I: Skin characteristics and sunburns in basal cell and squamous cell carcinomas of the skin.

    PubMed Central

    Zanetti, R.; Rosso, S.; Martinez, C.; Navarro, C.; Schraub, S.; Sancho-Garnier, H.; Franceschi, S.; Gafà, L.; Perea, E.; Tormo, M. J.; Laurent, R.; Schrameck, C.; Cristofolini, M.; Tumino, R.; Wechsler, J.

    1996-01-01

    The aim of this study was to investigate constitutional and environmental determinants of non-melanocytic skin cancer among different populations from south Europe. Between 1989 and 1993 we interviewed incident cases and a random population sample of controls from five centres where a cancer registry was operating, whereas we selected a sample of hospital-based cases and controls from three other centres. Controls were stratified according to the age and sex distribution of cases. In all, 1549 cases of basal cell carcinoma (BCC), 228 of squamous cell carcinoma (SCC) and 1795 controls were interviewed. Both cancers affected primarily sun-exposed sites such as face, head and neck, but the prevalence of BCC on the trunk was higher than for SCC. Pigmentary traits such as hair and eye colour as well as tendency to sunburn were strong and independent indicators of risk for both BCC and SCC. In SCC, adjusted odds ratios (ORs) ranged from 1.6 for fair hair colour to 12.5 for red hair. Light-blonde hair entailed a risk of about 2 for BCC. Pale eye colour was associated with a risk of 1.8 for SCC and 1.4 for BCC. Subjects who always burn and never tan showed an adjusted OR of 2.7 for BCC and 2.0 for SCC. A history of sunburns and a young age at first sunburn were associated with an increased risk for BCC only (OR 1.7). Pigmentary traits and sun sensitivity of the skin confirmed their role as risk indicators. The effect of sunburns, as an indicator of both exposure and sun sensitivity of the skin, is less clear. Nevertheless, its association with BCC suggests, by analogy with melanoma, a relationship with intense sun exposure. Conversely, SCC would require prolonged exposure to sunlight. PMID:8645595

  5. A Characterization of the expression of 14-3-3 isoforms in psoriasis, basal cell carcinoma, atopic dermatitis and contact dermatitis

    PubMed Central

    Raaby, Line; Otkjær, Kristian; Salvskov-Iversen, Maria Luise; Johansen, Claus; Iversen, Lars

    2010-01-01

    14-3-3 is a highly conserved protein involved in a number of cellular processes including cell signalling, cell cycle regulation and gene transcription. Seven isoforms of the protein have been identified; β, γ, ε, ζ η σ and τ. The expression profile of the various isoforms in skin diseases is unknown. To investigate the expression of the seven 14-3-3 isoforms in involved and uninvolved skin from psoriasis, basal cell carcinoma (BCC), atopic dermatitis and nickel induced allergic contact dermatitis. Punch biopsies from involved and uninvolved skin were analyzed with quantitative reverse transcription-polymerase chain reaction to determine the mRNA expression of the 14-3-3 isoforms. The protein level of 14-3-3 isoforms was measured by Western blot technique in keratome biopsies from patients with psoriasis. Evaluation of dermal and epidermal protein expression was performed by immunofluorescence staining. Increased 14-3-3τ mRNA levels were detected in involved skin from patients with psoriasis, contact dermatitis and BCC. 14-3-3σ mRNA expression was increased in psoriasis and contact dermatitis, but not in BCC. In atopic dermatitis no significant difference between involved and uninvolved skin was found. The expression of the 14-3-3 isoforms was also studied at the protein level in psoriasis. Only 14-3-3τ expression was significantly increased in involved psoriatic skin compared with uninvolved skin. Immunofluorescence staining with 14-3-3τ- and 14-3-3σ-specific antibodies showed localization of both isoforms to the cytoplasm of the keratinocytes in the various skin sections. These results demonstrate a disease specific expression profile of the 14-3-3τ and 14-3-3σ iso-forms. PMID:25386251

  6. Photodynamic therapy for difficult-to-treat basal cell carcinomas: Do poorly responding BCCs lack accumulation of protoporphyrin IX after ALA/MAL application?

    NASA Astrophysics Data System (ADS)

    Sandberg, Carin; Paoli, John; Halldin, Christina B.; Gillstedt, Martin; Larkö, Olle; Wennberg, Ann-Marie; Ericson, Marica B.

    2009-06-01

    Photodynamic therapy (PDT) using topical application of aminolevulinic acid (ALA) and methylaminolevulinate (MAL) has become a popular therapeutic method for the treatment of non-melanoma skin cancers such as basal cell carcinomas (BCCs); however, the treatment response varies. An important question is if BCCs which respond poorly to PDT lack accumulation of protoporhyrin IX (PpIX) after ALA/MAL application. In connection to PDT, fluorescence diagnostics (FD) can be performed to detect PpIX within human skin. We investigated fluorescence images from 22 patients with 35 BCCs. They were evaluated with respect to the fluorescence contrast based on image analysis, which was considered to be a tool to non-invasively measure the PpIX-concentration. As expected the fluorescence contrast between tumor and normal skin was elevated after MAL-application; although no correlation between low fluorescence contrast and lack of treatment response could be observed. In a former study, we have also investigated the transdermal penetration of ALA and MAL in 27 BCCs in vivo using a microdialysis technique. In 15 of 16 BCCs in which the microdialysis catheter was located superficially (i.e. at a depth of less than 1 mm), therapeutic drug concentrations were detected;.however, in the 11 lesions with a deeper catheter location (below 1 mm) drug concentrations above the detection limit of the system were only obtained in 6 lesions (p=0.026). No difference between the transdermal penetration of MAL and ALA could be seen. Conclusions: Lack of PpIX fluorescence cannot entirely explain why some BCCs don't respond to PDT, but inadecuate concentrations within the full thickness of the tumor may play a role as microdialysis has shown.

  7. Silibinin and its 2,3-dehydro-derivative inhibit basal cell carcinoma growth via suppression of mitogenic signaling and transcription factors activation.

    PubMed

    Tilley, Cynthia; Deep, Gagan; Agarwal, Chapla; Wempe, Michael F; Biedermann, David; Valentová, Kateřina; Kren, Vladimir; Agarwal, Rajesh

    2016-01-01

    Basal cell carcinoma (BCC) is the most common cancer worldwide, and its current treatment options are insufficient and toxic. Surprisingly, unlike several other malignancies, chemopreventive efforts against BCC are almost lacking. Silibinin, a natural agent from milk thistle seeds, has shown strong efficacy against several cancers including ultraviolet radiation-induced skin (squamous) cancer; however, its potential activity against BCC is not yet examined. Herein, for the first time, we report the efficacy of silibinin and its oxidation product 2,3-dehydrosilibinin (DHS) against BCC both in vitro and in vivo using ASZ (p53 mutated) and BSZ (p53 deleted) cell lines derived from murine BCC tumors. Both silibinin and DHS significantly inhibited cell growth and clonogenicity while inducing apoptosis in a dose- and time-dependent manner, with DHS showing higher activity at lower concentrations. Both agents also inhibited the mitogenic signaling by reducing EGFR, ERK1/2, Akt, and STAT3 phosphorylation and suppressed the activation of transcription factors NF-κB and AP-1. More importantly, in an ectopic allograft model, oral administration of silibinin and DHS (200 mg/kg body weight) strongly inhibited the ASZ tumor growth by 44% and 71% (P < 0.05), respectively, and decreased the expression of proliferation biomarkers (PCNA and cyclin D1) as well as NF-κB p50 and c-Fos in the tumor tissues. Taken together, these results provide the first evidence for the efficacy and usefulness of silibinin and its derivative DHS against BCC, and suggest the need for additional studies with these agents in pre-clinical and clinical BCC chemoprevention and therapy models. PMID:25492239

  8. PERIANAL BASAL CELL CARCINOMA—AN UNUSUAL SITE OF OCCURRENCE

    PubMed Central

    Nagendra Naidu, D V; Rajakumar, V

    2010-01-01

    Basal cell carcinoma is the most common nonmelanoma skin cancer. Its occurrence in the perianal region is very rare. Awareness of its benign behavior in this region, in contrast to the earlier reports, is vital in its management. Local excision seems to provide adequate control. We are herewith reporting an extremely rare case of a 69-year-old male with basal cell carcinoma treated adequately with local excision. PMID:20606890

  9. –308 G/A TNF-α gene polymorphism influences the course of basal cell carcinoma in a Polish population

    PubMed Central

    Zabłotna, Monika; Michajłowski, Igor; Nedoszytko, Bogusław; Lesiak, Aleksandra; Nowicki, Roman

    2015-01-01

    Introduction The etiopathogenesis of basal cell carcinoma (BCC) is multifactorial. The TNF-α gene seems to be an interesting gene candidate for BCC susceptibility because of the proinflammatory and immunosuppressive properties of its product. The aim of the study was to assess the frequency of –308 G/A and –238 G/A gene polymorphisms in the TNF-α gene and serum levels of cytokine in patients with BCC. Material and methods The study included 176 (94 women, 82 men) patients with BCC and 261 healthy volunteers. –308 G/A and –238 G/A TNF-α polymorphisms were analyzed using the amplification refractory mutation system-polymerase chain reaction method (ARMS-PCR). Serum concentrations of TNF-α were measured using ELISA. Results There was no statistically significant association between allele, genotype and haplotype frequencies in BCC patients in comparison with controls. Occurrence of the –308 TNF-α A allele or GA genotype in the group of patients with BCC increases risk of recurrence of tumor recurrence (OR = 4.8, 95% CI: 1.6–13.9, p = 0.004 and OR = 4.97, 95% CI: 1.7–14.5, p = 0.004). Moreover, –308 TNF-α GG genotype decreased risk of recurrence (OR = 0.2, 95% CI: 0.07–0.6, p = 0.004). The –238/–308 GA haplotype was connected with increased risk of recurrence (OR = 4.36, 95% CI: 1.49–12.7, p = 0.007). We also found significantly higher TNF-α levels among BCC patients in comparison with controls (p = 0.004). Conclusions The obtained results did not confirm the role of the –308 G/A and –238 G/A TNF-α gene polymorphisms in BCC development, but the presence of the A allele or GA genotype in –308 G/A TNF-α gene polymorphism may have an impact on the course of the disease. PMID:26170854

  10. Treatment of Basal Cell Carcinoma Using a One-Stop-Shop With Reflectance Confocal Microscopy: Study Design and Protocol of a Randomized Controlled Multicenter Trial

    PubMed Central

    Wolkerstorfer, Albert; Elshot, Yannick; Zupan-Kajcovski, Biljana; Crijns, Marianne B; Starink, Markus V; Bekkenk, Marcel W; van der Wal, Allard C; Spuls, Phyllis I; de Rie, Menno A

    2015-01-01

    Background Basal cell carcinoma (BCC) is the most common cancer diagnosed in white populations worldwide. The rising incidence of BCC is becoming a major worldwide public health problem. Therefore, there is a need for more efficient management. Objective The aim of this research is to assess the efficacy and safety of a one-stop-shop (OSS) concept, using real-time in vivo reflectance confocal microscopy (RCM) (Vivascope 1500; Lucid Technologies, Henrietta, NY, USA) as a diagnostic tool, prior to surgical management of new primary BCCs. Methods This is a prospective non-inferiority multi-center RCT designed to compare the “OSS concept using RCM” to current standards of care in diagnosing and treating clinically suspected BCC. Patients ≥ 18 years attending our outpatient clinic at the Department of Dermatology, Academic Medical Center, University of Amsterdam, and the Department of Dermatology, the Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (Amsterdam, The Netherlands) with a clinically suspected new primary BCC lesion will be considered for enrollment using predefined inclusion and exclusion criteria, and will be randomly allocated to the experimental or control group. The main outcome parameter is the assessment of incomplete surgical excision margins on the final pathology report of confirmed BCC lesions (either by punch biopsy or RCM imaging). Other outcome measures include diagnostic accuracy (sensitivity and specificity) of RCM for diagnosing BCC and dividing between subtypes, and throughput time. Patient satisfaction data will be collected postoperatively after 3 months during routine follow-up. Results This research is investigator-initiated and received ethics approval. Patient recruitment started in February 2015, and we expect all study-related activities to be completed by fall 2015. Conclusions This RCT is the first to examine an OSS concept using RCM for diagnosing and treating clinically suspected BCC lesions. Results of this

  11. Distinctive Patterns of CTNNB1 (β-Catenin) Alterations in Salivary Gland Basal Cell Adenoma and Basal Cell Adenocarcinoma.

    PubMed

    Jo, Vickie Y; Sholl, Lynette M; Krane, Jeffrey F

    2016-08-01

    Salivary gland basaloid neoplasms are diagnostically challenging. Limited publications report that some basal cell adenomas harbor CTNNB1 mutations, and nuclear β-catenin expression is prevalent. We evaluated β-catenin expression in basal cell adenomas and adenocarcinomas in comparison with salivary tumors in the differential diagnosis and performed targeted genetic analysis on a subset of cases. β-catenin immunohistochemistry was performed on formalin-fixed, paraffin-embedded whole sections from 73 tumors. Nuclear staining was scored semiquantitatively by extent and intensity. DNA was extracted from 6 formalin-fixed, paraffin-embedded samples (5 basal cell adenomas, 1 basal cell adenocarcinoma) for next-generation sequencing. Nuclear β-catenin staining was present in 18/22 (82%) basal cell adenomas; most were diffuse and strong and predominant in the basal component. Two of 3 basal cell adenocarcinomas were positive (1 moderate focal; 1 moderate multifocal). All adenoid cystic carcinomas (0/20) and pleomorphic adenomas (0/20) were negative; 2/8 epithelial-myoepithelial carcinomas showed focal nuclear staining. Most β-catenin-negative tumors showed diffuse membranous staining in the absence of nuclear staining. Four of 5 basal cell adenomas had exon 3 CTNNB1 mutations, all c.104T>C (p.I35T). Basal cell adenocarcinoma showed a more complex genomic profile, with activating mutations in PIK3CA, biallelic inactivation of NFKBIA, focal CYLD deletion, and without CTNNB1 mutation despite focal β-catenin expression. Nuclear β-catenin expression has moderate sensitivity (82%) for basal cell adenoma but high specificity (96%) in comparison with its morphologic mimics. CTNNB1 mutation was confirmed in most basal cell adenomas tested, and findings in basal cell adenocarcinoma suggest possible tumorigenic mechanisms, including alterations in PI3K and NF-κB pathways and transcriptional regulation. PMID:27259009

  12. Three-Year Follow-Up Results of Photodynamic Therapy vs. Imiquimod vs. Fluorouracil for Treatment of Superficial Basal Cell Carcinoma: A Single-Blind, Noninferiority, Randomized Controlled Trial.

    PubMed

    Roozeboom, Marieke H; Arits, Aimee H M M; Mosterd, Klara; Sommer, Anja; Essers, Brigitte A B; de Rooij, Michette J M; Quaedvlieg, Patricia J F; Steijlen, Peter M; Nelemans, Patty J; Kelleners-Smeets, Nicole W J

    2016-08-01

    A randomized controlled trial including 601 patients previously showed that the effectiveness of imiquimod and fluorouracil cream were not inferior to methyl aminolevulinate photodynamic therapy (MAL-PDT) in patients with superficial basal cell carcinoma after 1 year of follow-up. We now present the 3-year follow-up results. The probability of tumor-free survival at 3 years post-treatment was 58.0% for MAL-PDT (95% confidence interval [CI] = 47.8-66.9), 79.7% for imiquimod (95% CI = 71.6-85.7), and 68.2% for fluorouracil (95% CI = 58.1-76.3). The hazard ratio for treatment failure comparing imiquimod with MAL-PDT was 0.50 (95% CI = 0.33-0.76, P = 0.001). Comparison of fluorouracil with MAL-PDT and fluorouracil with imiquimod showed hazard ratios of 0.73 (95% CI = 0.51-1.05, P = 0.092) and 0.68 (95% CI = 0.44-1.06, P = 0.091), respectively. Subgroup analysis showed a higher probability of treatment success for imiquimod versus MAL-PDT in all subgroups with the exception of elderly patients with superficial basal cell carcinoma on the lower extremities. In this subgroup, the risk difference in tumor-free survival was 57.6% in favor of MAL-PDT. In conclusion, according to results at 3 years post-treatment, imiquimod is superior and fluorouracil not inferior to MAL-PDT in treatment of superficial basal cell carcinoma. PMID:27113429

  13. [Extensive basal cell cancer of the scalp - case reports].

    PubMed

    Olędzki, Szymon; Modrzejewski, Andrzej; Department Of Surgery And Emergency Nursing Pomeranian Medical University In Szczecin Poland, Ryszard

    2016-07-01

    Basal-cell canceris a slow growing, rarely metastasizes, locally malignant skin cancer. Patients with this neoplasm usually have excellent prognosis. Potentially, in some cases, a good prognosis cause a delay in therapy. Delay or withdrawal from treatment might lead to higher local extension of tumour with the destruction of the surrounding tissue. In this article we are presenting two patients with extensive basal cell cancer. The first patient underwent plastic surgery for extensive basal-cell carcinoma located in the parietal and temporal area. The second patient was observed due to recurrence of extensive basal cell carcinoma in the parietal region. Local advancement of the primary tumor could be a reason for the lack of radicality of surgery. Such advancement is rarely seen nowadays. The cases demonstrate the need for awareness about the possible severe course of the disease. PMID:27590651

  14. [Extensive basal cell cancer of the scalp - case reports].

    PubMed

    Olędzki, Szymon; Modrzejewski, Andrzej; Department Of Surgery And Emergency Nursing Pomeranian Medical University In Szczecin Poland, Ryszard

    2016-08-01

    Basal-cell canceris a slow growing, rarely metastasizes, locally malignant skin cancer. Patients with this neoplasm usually have excellent prognosis. Potentially, in some cases, a good prognosis cause a delay in therapy. Delay or withdrawal from treatment might lead to higher local extension of tumour with the destruction of the surrounding tissue. In this article we are presenting two patients with extensive basal cell cancer. The first patient underwent plastic surgery for extensive basal-cell carcinoma located in the parietal and temporal area. The second patient was observed due to recurrence of extensive basal cell carcinoma in the parietal region. Local advancement of the primary tumor could be a reason for the lack of radicality of surgery. Such advancement is rarely seen nowadays. The cases demonstrate the need for awareness about the possible severe course of the disease. PMID:27591446

  15. Basal cell adenoma of maxillary sinus mimicking ameloblastoma.

    PubMed

    Bhagde, Priya Anil; Barpande, Suresh Ramchandra; Bhavthankar, Jyoti Dilip; Humbe, Jayanti G

    2016-01-01

    Basal cell adenoma (BCA) is a rare basaloid tumor, with only 20% of cases occurring in minor salivary glands. Histologically, BCA is characterized by the presence of basaloid cells and may frequently be mistaken with canalicular adenoma, basal cell adenocarcinoma, adenoid cystic carcinoma and basaloid squamous cell carcinoma. Immunohistochemistry may aid in arriving at a final diagnosis as in the present case. Reported here is a case of locally aggressive BCA. Histologically, the lesion mimicked ameloblastoma and other entities which posed a diagnostic challenge. There are no reports of BCA presenting as an aggressive lesion available in English literature so far; moreover, merely a single case of BCA of maxillary sinus has been previously reported to the best of our cognition. This case report highlights the rarity of this tumor with regards to its site of origin, clinical behavior and histopathological mimics. PMID:27194878

  16. Basal cell adenoma of maxillary sinus mimicking ameloblastoma

    PubMed Central

    Bhagde, Priya Anil; Barpande, Suresh Ramchandra; Bhavthankar, Jyoti Dilip; Humbe, Jayanti G

    2016-01-01

    Basal cell adenoma (BCA) is a rare basaloid tumor, with only 20% of cases occurring in minor salivary glands. Histologically, BCA is characterized by the presence of basaloid cells and may frequently be mistaken with canalicular adenoma, basal cell adenocarcinoma, adenoid cystic carcinoma and basaloid squamous cell carcinoma. Immunohistochemistry may aid in arriving at a final diagnosis as in the present case. Reported here is a case of locally aggressive BCA. Histologically, the lesion mimicked ameloblastoma and other entities which posed a diagnostic challenge. There are no reports of BCA presenting as an aggressive lesion available in English literature so far; moreover, merely a single case of BCA of maxillary sinus has been previously reported to the best of our cognition. This case report highlights the rarity of this tumor with regards to its site of origin, clinical behavior and histopathological mimics. PMID:27194878

  17. Nanoelectroablation therapy for murine basal cell carcinoma

    SciTech Connect

    Nuccitelli, Richard; Tran, Kevin; Athos, Brian; Kreis, Mark; Nuccitelli, Pamela; Chang, Kris S.; Epstein, Ervin H.; Tang, Jean Y.

    2012-08-03

    Highlights: Black-Right-Pointing-Pointer Nanoelectroablation is a new, non-thermal therapy that triggers apoptosis in tumors. Black-Right-Pointing-Pointer Low energy, ultrashort, high voltage pulses ablate the tumor with little or no scar. Black-Right-Pointing-Pointer Nanoelectroablation eliminates 99.8% of the BCC but may leave a few remnants behind. Black-Right-Pointing-Pointer Pilot clinical trials on human BCCs are ongoing and leave no remnants in most cases. -- Abstract: When skin tumors are exposed to non-thermal, low energy, nanosecond pulsed electric fields (nsPEF), apoptosis is initiated both in vitro and in vivo. This nanoelectroablation therapy has already been proven effective in treating subdermal murine allograft tumors. We wanted to determine if this therapy would be equally effective in the treatment of autochthonous BCC tumors in Ptch1{sup +/-}K14-Cre-ER p53 fl/fl mice. These tumors are similar to human BCCs in histology and in response to drug therapy . We have treated 27 BCCs across 8 mice with either 300 pulses of 300 ns duration or 2700 pulses of 100 ns duration, all at 30 kV/cm and 5-7 pulses per second. Every nsPEF-treated BCC began to shrink within a day after treatment and their initial mean volume of 36 {+-} 5 (SEM) mm{sup 3} shrunk by 76 {+-} 3% over the ensuing two weeks. After four weeks, they were 99.8% ablated if the size of the treatment electrode matched the tumor size. If the tumor was larger than the 4 mm wide electrode, multiple treatments were needed for complete ablation. Treated tumors were harvested for histological analysis at various times after treatment and exhibited apoptosis markers. Specifically, pyknosis of nuclei was evident as soon as 2 days after nsPEF treatment, and DNA fragmentation as detected via TUNEL staining was also evident post treatment. Nanoelectroablation is effective in triggering apoptosis and remission of radiation-induced BCCs with a single 6 min-long treatment of 2700 pulses.

  18. Nanoelectroablation therapy for murine basal cell carcinoma.

    PubMed

    Nuccitelli, Richard; Tran, Kevin; Athos, Brian; Kreis, Mark; Nuccitelli, Pamela; Chang, Kris S; Epstein, Ervin H; Tang, Jean Y

    2012-08-01

    When skin tumors are exposed to non-thermal, low energy, nanosecond pulsed electric fields (nsPEF), apoptosis is initiated both in vitro and in vivo. This nanoelectroablation therapy has already been proven effective in treating subdermal murine allograft tumors. We wanted to determine if this therapy would be equally effective in the treatment of autochthonous BCC tumors in Ptch1(+/-)K14-Cre-ER p53 fl/fl mice. These tumors are similar to human BCCs in histology [2,20] and in response to drug therapy [19]. We have treated 27 BCCs across 8 mice with either 300 pulses of 300 ns duration or 2700 pulses of 100 ns duration, all at 30 kV/cm and 5-7 pulses per second. Every nsPEF-treated BCC began to shrink within a day after treatment and their initial mean volume of 36 ± 5 (SEM) mm(3) shrunk by 76 ± 3% over the ensuing two weeks. After four weeks, they were 99.8% ablated if the size of the treatment electrode matched the tumor size. If the tumor was larger than the 4mm wide electrode, multiple treatments were needed for complete ablation. Treated tumors were harvested for histological analysis at various times after treatment and exhibited apoptosis markers. Specifically, pyknosis of nuclei was evident as soon as 2 days after nsPEF treatment, and DNA fragmentation as detected via TUNEL staining was also evident post treatment. Nanoelectroablation is effective in triggering apoptosis and remission of radiation-induced BCCs with a single 6 min-long treatment of 2700 pulses. PMID:22771794

  19. Nanoelectroablation Therapy for Murine Basal Cell Carcinoma

    PubMed Central

    Nuccitelli, Richard; Tran, Kevin; Athos, Brian; Kreis, Mark; Nuccitelli, Pamela; Chang, Kris S.; Epstein, Ervin H.; Tang, Jean Y.

    2012-01-01

    When skin tumors are exposed to non-thermal, low energy, nanosecond pulsed electric fields (nsPEF), apoptosis is initiated both in vitro and in vivo. This nanoelectroablation therapy has already been proven effective in treating subdermal murine allograft tumors. We wanted to determine if this therapy would be equally as effective in the treatment of autochthonous BCC tumors in Ptch1+/−K14-Cre-ER p53 fl/fl mice. These tumors are similar to human BCCs in histology [2;20] and in response to drug therapy [19]. We have treated 27 BCCs across 8 mice with either 300 pulses of 300 ns duration or 2700 pulses of 100 ns duration, all at 30 kV/cm and 5–7 pulses per second. Every nsPEF-treated BCC began to shrink within a day after treatment and their initial mean volume of 36 ± 5 (SEM) mm3 shrunk by 76 ± 3% over the ensuing two weeks. After four weeks, they were 99.8% ablated if the size of the treatment electrode matched the tumor size. If the tumor was larger than the 4 mm wide electrode, multiple treatments were needed for complete ablation. Treated tumors were harvested for histological analysis at various times after treatment and exhibited apoptosis markers. Specifically, pyknosis of nuclei was evident as soon as 2 days after nsPEF treatment, and DNA fragmentation as detected via TUNEL staining was also evident post treatment. Nanoelectroablation is effective in triggering apoptosis and remission of radiation-induced BCCs with a single 6 minute-long treatment of 2700 pulses. PMID:22771794

  20. Epithelial-Mesenchymal Transition Protein Expression in Basal Cell Adenomas and Basal Cell Adenocarcinomas.

    PubMed

    Tesdahl, Brennan A; Wilson, Thomas C; Hoffman, Henry T; Robinson, Robert A

    2016-06-01

    Basal cell adenomas and basal cell adenocarcinomas show marked histomorphologic similarity and are separated microscopically primarily by the invasive characteristics of the adenocarcinomas. We wished to explore potential differences in the expression of epithelial-mesenchymal transition associated proteins in these two tumor types. A tissue microarray was constructed utilizing 29 basal cell adenomas and 16 basal cell adenocarcinomas. Immunohistochemical expression of E-cadherin, beta-catenin, Twist 1 and vimentin were investigated. Both tumors expressed all proteins in a relatively similar manner. Nuclear beta-catenin was essentially limited to the abluminal cell populations in both tumor types. E-cadherin was limited largely to luminal locations but was more prevalent in the adenocarcinomas as compared to the adenomas. Primarily abluminal expression for vimentin was seen, sometimes present in an apical dot-like pattern. Distinct populations of cellular expression of these four markers of epithelial mesenchymal transition were present but were similar in locations in both tumors with no patterns discerned to separate basal cell adenoma from basal cell adenocarcinoma. Given these findings, the mechanisms by which basal cell adenocarcinoma is able to invade while its counterpart, basal cell adenoma can not, may be more complex than in other tumor types. PMID:26442856

  1. Basal cell adenoma of the parotid gland. Case report and review of the literature.

    PubMed

    González-García, Raúl; Nam-Cha, Syong H; Muñoz-Guerra, Mario F; Gamallo-Amat, C

    2006-03-01

    Basal cell adenoma of the salivary glands is an uncommon type of monomorphous adenoma. Its most frequent location is the parotid gland. It usually appears as a firm and mobile slow-growing mass. Histologically, isomorphic cells in nests and interlaced trabecules with a prominent basal membrane are observed. It is also characterized by the presence of a slack and hyaline stroma and the absence of myxoid or condroid stroma. In contrast to pleomorphic adenoma, it tends to be multiple and its recurrence rate after surgical excision is high. Due to prognostic implications, differential diagnosis with basal cell adenocarcinoma, adenoid cystic carcinoma and basaloid squamous cell carcinoma is mandatory. We describe a case of basal cell adenoma of the parotid gland. We also review the literature and discuss the diagnosis and management of this rare entity. PMID:16505803

  2. PTCH1+/− Dermal Fibroblasts Isolated from Healthy Skin of Gorlin Syndrome Patients Exhibit Features of Carcinoma Associated Fibroblasts

    PubMed Central

    Robert, Thomas; Ripoche, Hugues; Brellier, Florence; Chevallier-Lagente, Odile; Avril, Marie-Françoise; Magnaldo, Thierry

    2009-01-01

    Gorlin's or nevoid basal cell carcinoma syndrome (NBCCS) causes predisposition to basal cell carcinoma (BCC), the commonest cancer in adult human. Mutations in the tumor suppressor gene PTCH1 are responsible for this autosomal dominant syndrome. In NBCCS patients, as in the general population, ultraviolet exposure is a major risk factor for BCC development. However these patients also develop BCCs in sun-protected areas of the skin, suggesting the existence of other mechanisms for BCC predisposition in NBCCS patients. As increasing evidence supports the idea that the stroma influences carcinoma development, we hypothesized that NBCCS fibroblasts could facilitate BCC occurence of the patients. WT (n = 3) and NBCCS fibroblasts bearing either nonsense (n = 3) or missense (n = 3) PTCH1 mutations were cultured in dermal equivalents made of a collagen matrix and their transcriptomes were compared by whole genome microarray analyses. Strikingly, NBCCS fibroblasts over-expressed mRNAs encoding pro-tumoral factors such as Matrix Metalloproteinases 1 and 3 and tenascin C. They also over-expressed mRNA of pro-proliferative diffusible factors such as fibroblast growth factor 7 and the stromal cell-derived factor 1 alpha, known for its expression in carcinoma associated fibroblasts. These data indicate that the PTCH1+/− genotype of healthy NBCCS fibroblasts results in phenotypic traits highly reminiscent of those of BCC associated fibroblasts, a clue to the yet mysterious proneness to non photo-exposed BCCs in NBCCS patients. PMID:19287498

  3. Dermatocosmetologic aspects of treatment of basal-cell skin cancer

    NASA Astrophysics Data System (ADS)

    Geinitz, A. V.; Stranadko, Ye. F.; Yusupova, Zh. M.; Tkachenko, S. B.

    2005-08-01

    The obtained clinical findings demonstrate excellent results after surgical MSC treatment with the application of modem laser surgical technologies. All the operated patients were under oncologist"s control during 1.5-2.5 years. In 6 cases we observed topical recurrences which needed a repeated intervention. Thus, our experience of applying LPh for surgical treatment of basal-cell carcinomas of the head and neck dem- onstrate that in the analysed cases it is more reasonable to use two models of laser devices different in their physical parameters. These devices are used at different surgical stages so as to provide a precise effect in laser tumour va- porization within the borders of the healthy tissue, to make better vascular coagulation and laser smoothing of wound surface. Immediate, direct and long-term results of modern surgical lasers" application for treating skin BSC almost in all cases give good and excellent cosmetic effect after such intenventions.

  4. Basal cell nevus syndrome. Presentation of six cases and literature review.

    PubMed

    Díaz-Fernández, José María; Infante-Cossío, Pedro; Belmonte-Caro, Rodolfo; Ruiz-Laza, Luis; García-Perla-García, Alberto; Gutiérrez-Pérez, José Luis

    2005-01-01

    Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited disorder which is characterised by the presence of multiple maxillary keratocysts and facial basal cell carcinomas, along with other less frequent clinical characteristics such us musculo-skeletal disturbances (costal and vertebrae malformations), characteristic facies, neurological (calcification of the cerebral falx, schizophrenia, learning difficulties), skin (cysts, lipomas, fibromas), sight, hormonal, etc. On occasions it can be associated with aggressive basal cell carcinomas and malignant neoplasias, for which early diagnosis and treatment is essential, as well as family detection and genetic counselling. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus allowing an early diagnosis of these patients. In its clinical management and follow up, the odonto-stomatologist, the maxillofacial surgeon and several other medical specialists are involved. In this paper a review of the literature, and six cases of patients affected by multi-systemic and varied clinical expression of basal cell nevus syndrome, are presented. PMID:15800468

  5. Unilateral nevoid acanthosis nigricans: Uncommon variant of a common disease

    PubMed Central

    Das, Anupam; Bhattacharya, Sabari; Kumar, Piyush; Gayen, Tirthankar; Roy, Kunal; Das, Nilay K.; Gharami, Ramesh C.

    2014-01-01

    Acanthosis nigricans (AN) is a fairly common dermatosis characterized by hyperpigmented velvety plaques, having a predilection for the intertriginous areas. We herein present a case of unilateral nevoid acanthosis nigricans over the left lateral chest, in an adult male. The rarity of documentation of this entity in the world literature prompted us to report the case. PMID:25506563

  6. Diagnosis and Management of Hereditary Basal Cell Skin Cancer.

    PubMed

    Shanley, Susan; McCormack, Christopher

    2016-01-01

    Basal cell carcinoma (BCC) is the most common cancer in Caucasians worldwide and its incidence is rising. It is generally considered a sporadic tumour, most likely to affect fair-skinned individuals exposed to ultraviolet (UV) radiation. This chapter focusses on the approach to recognising the relatively few individuals in whom a high-risk hereditary susceptibility may be present. Gorlin syndrome is the main consideration and the gene most commonly mutated is PTCH1, a key regulator of the Hedgehog developmental pathway. Recently, loss of function of another gene in the same pathway, SUFU, has been found to explain a subset of families. Understanding the pathogenesis of familial BCCs has advanced the understanding of the biology of sporadic tumours and led to targeted therapy trials. The management of familial BCCs remains a challenge due to significant unmet needs for non-surgical treatments and a high burden of disease for the individual. Together with the prospect of advances in gene discovery and translation, these challenges highlight the need for ongoing review of at-risk and affected individuals by a multidisciplinary team. PMID:27075355

  7. Limbal Basal Cell Density Decreases in Limbal Stem Cell Deficiency

    PubMed Central

    Chan, Eric H; Chen, Luxia; Rao, Jian Yu; Yu, Fei; Deng, Sophie X.

    2016-01-01

    Purpose To investigate changes in limbal basal epithelial cell density in eyes with limbal stem cell deficiency (LSCD) using in vivo confocal laser scanning microscopy Design retrospective observational comparative study Methods A total of 43 eyes of 30 patients diagnosed with LSCD were included in the study. Ten eyes from normal subjects were included as control. Confocal imaging of the central cornea, and the superior, nasal, inferior and temporal limbus were collected using the Heidelberg Retina Tomograph III Rostock Corneal Module. Basal cell density in all locations was measured by two independent observers. Results The mean basal cell density of the normal group was 9264 ±598 cells/mm2 in the cornea and 7120 ±362 cells/mm2 in the limbus. In the LSCD group, the mean basal cell density in the cornea decreased 31.0% (6389 ±1820 cells/mm2, p<0.001) and in the limbus decreased 23.6% (5440 ±1123 cells/mm2, p<0.001) compared to that in the control. There was a trend of basal cell density decline in more advanced stage of LSCD. The basal cell density declined in the unaffected regions at a similar degree as that in the affected region in sectoral LSCD (p>0.05). The basal cell diameter increased by 24.6% in the cornea (14.7 μm) and by 15.7% in the limbus (15.5 μm) compared to the control. Conclusions Basal cell density in both central cornea and limbus decreases in LSCD. LSCs are affected globally and basal cell density could be used as a parameter to measure LSC function at the early stages of the disease process. PMID:26149968

  8. Learning semantic histopathological representation for basal cell carcinoma classification

    NASA Astrophysics Data System (ADS)

    Gutiérrez, Ricardo; Rueda, Andrea; Romero, Eduardo

    2013-03-01

    Diagnosis of a histopathology glass slide is a complex process that involves accurate recognition of several structures, their function in the tissue and their relation with other structures. The way in which the pathologist represents the image content and the relations between those objects yields a better and accurate diagnoses. Therefore, an appropriate semantic representation of the image content will be useful in several analysis tasks such as cancer classification, tissue retrieval and histopahological image analysis, among others. Nevertheless, to automatically recognize those structures and extract their inner semantic meaning are still very challenging tasks. In this paper we introduce a new semantic representation that allows to describe histopathological concepts suitable for classification. The approach herein identify local concepts using a dictionary learning approach, i.e., the algorithm learns the most representative atoms from a set of random sampled patches, and then models the spatial relations among them by counting the co-occurrence between atoms, while penalizing the spatial distance. The proposed approach was compared with a bag-of-features representation in a tissue classification task. For this purpose, 240 histological microscopical fields of view, 24 per tissue class, were collected. Those images fed a Support Vector Machine classifier per class, using 120 images as train set and the remaining ones for testing, maintaining the same proportion of each concept in the train and test sets. The obtained classification results, averaged from 100 random partitions of training and test sets, shows that our approach is more sensitive in average than the bag-of-features representation in almost 6%.

  9. Basal Cell Skin Cancer, Version 1.2016, NCCN Clinical Practice Guidelines in Oncology.

    PubMed

    Bichakjian, Christopher K; Olencki, Thomas; Aasi, Sumaira Z; Alam, Murad; Andersen, James S; Berg, Daniel; Bowen, Glen M; Cheney, Richard T; Daniels, Gregory A; Glass, L Frank; Grekin, Roy C; Grossman, Kenneth; Higgins, Susan A; Ho, Alan L; Lewis, Karl D; Lydiatt, Daniel D; Nehal, Kishwer S; Nghiem, Paul; Olsen, Elise A; Schmults, Chrysalyne D; Sekulic, Aleksandar; Shaha, Ashok R; Thorstad, Wade L; Tuli, Malika; Urist, Marshall M; Wang, Timothy S; Wong, Sandra L; Zic, John A; Hoffmann, Karin G; Engh, Anita

    2016-05-01

    Basal cell carcinoma (BCC) of the skin is the most common cancer, with a higher incidence than all other malignancies combined. Although it is rare to metastasize, patients with multiple or frequently recurring BCC can suffer substantial comorbidity and be difficult to manage. Assessment of risk is a key element of management needed to inform treatment selection. The overall management of BCC primarily consists of surgical approaches, with radiation therapy as an alternate or adjuvant option. Many superficial therapies for BCC have been explored and continue to be developed, including topicals, cryosurgery, and photodynamic therapy. Two hedgehog pathway inhibitors were recently approved by the FDA for systemic treatment of advanced and metastatic BCC, and others are in development. The NCCN Guidelines for Basal Cell Skin Cancer, published in full herein, include recommendations for selecting among the various surgical approaches based on patient-, lesion-, and disease-specific factors, as well as guidance on when to use radiation therapy, superficial therapies, and hedgehog pathway inhibitors. PMID:27160235

  10. Segmental basal cell naevus syndrome caused by an activating mutation in smoothened.

    PubMed

    Khamaysi, Z; Bochner, R; Indelman, M; Magal, L; Avitan-Hersh, E; Sarig, O; Sprecher, E; Bergman, R

    2016-07-01

    Aberrant sonic hedgehog signalling, mostly due to PTCH1 mutations, has been shown to play a central role in the pathogenesis of basal cell carcinoma (BCC), as well as in basal cell naevus syndrome (BCNS). Mutations in smoothened (SMO) encoding a receptor for sonic hedgehog have been reported in sporadic BCCs but not in BCNS. We report a case with multiple BCCs, pits and comedones in a segmental distribution over the upper part of the body, along with other findings compatible with BCNS. Histopathologically, there were different types of BCC. A heterozygous mutation (c.1234C>T, p.L412F) in SMO was detected in three BCCs but not in peripheral blood lymphocytes or the uninvolved skin. These were compatible with the type 1 mosaic form of BCNS. The p.L412F mutation was found experimentally to result in increased SMO transactivating activity, and the patient responded to vismodegib therapy. Activating mutations in SMO may cause BCNS. The identification of a gain-of-function mutation in SMO causing a type 1 mosaic form of BCNS further expands our understanding of the pathogenesis of BCC, with implications for the treatment of these tumours, whether sporadic or inherited. PMID:26822128