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Basal cell nevus syndrome

Daniel C Solis, Gina P Kwon, Katherine J Ransohoff, Shufeng Li, Harvind S Chahal, Mina S Ally, Marieke A D Peters, Kristi Schmitt-Burr, Joselyn Lindgren, Irene Bailey-Healy, Joyce M Teng, Ervin H Epstein, Jean Y Tang
Importance: Patients with basal cell nevus syndrome (BCNS) have a greater risk of developing numerous basal cell carcinomas (BCCs). Risk factors influencing the wide variation in tumor burden are poorly understood. Objective: To describe the burden of BCCs in patients with BCNS in the United States and identify potential risk factors for BCCs. Design, Setting, and Participants: Prospective clinical registry with data collected from September 2014 to March 2016...
November 30, 2016: JAMA Dermatology
Milan Hubacek, Tereza Kripnerova, Michaela Nemcikova, Anna Krepelová, Alena Puchmajerova, Marcela Malikova, Markéta Havlovicová, Jana Cadova, Roman Kodet, Milan Macek, Tatjana Dostalova
OBJECTIVES: Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated with a principal triad of multiple basal cell nevi, jaw odontogenic keratocysts, and skeletal anomalies, in stomatological and neurological practices. Proposal of multidisciplinary diagnostic algorithm comprising other medical specialists, including pathology, imaging, laboratory and molecular analyses based on the study outcomes. DESIGN: Case report of a male patient reporting paresthesia of their lower jaw, with right facial asymmetry (maxilla and mandible) and radiological detection of large osteolytic lesions in both jaws, including a retrospective analysis of a representative Czech cohort with BCNS from within the last decade...
September 2016: Neuro Endocrinology Letters
Saisindhu Narala, Philip R Cohen
Basal cell carcinoma (BCC) typically occurs in sun-exposed sites. Only 16 individuals with umbilical BCC have been described in the literature, and the characteristics of patients with umbilical BCC are summarized. PubMed was used to search the following terms: abdomen, basal cell carcinoma, basal cell nevus syndrome, and umbilicus. Papers with these terms and references cited within these papers were reviewed. BCC of the umbilicus has been reported in five men and 11 women; one man had two tumors. Two patients had basal cell nevus syndrome (BCNS)...
September 7, 2016: Curēus
Anne Lynn S Chang, Sarah T Arron, Michael R Migden, James A Solomon, Simon Yoo, Bann-Mo Day, Edward F McKenna, Aleksandar Sekulic
BACKGROUND: Aberrant activation of the Hedgehog (Hh) pathway is a key driver in the pathogenesis of basal cell carcinomas (BCCs), including patients with BCC nevus syndrome (BCCNS). It is unclear whether BCCs arising in patients with BCCNS respond differently to vismodegib than in patients without BCCNS. We examined the best overall response rate (BORR) and adverse events (AEs) of vismodegib in patients with advanced BCC (aBCC) with and without BCCNS. METHODS: Patients were treated with vismodegib 150 mg/day in the ERIVANCE BCC trial (ClinicalTrials...
September 1, 2016: Orphanet Journal of Rare Diseases
Aglaya G Iyevleva, Evgeny N Imyanitov
There is a number of drugs demonstrating specific activity towards hereditary cancers. For example, tumors in BRCA1/2 mutation carriers usually arise via somatic inactivation of the remaining BRCA allele, which makes them particularly sensitive to platinum-based drugs, PARP inhibitors (PARPi), mitomycin C, liposomal doxorubicin, etc. There are several molecular assays for BRCA-ness, which permit to reveal BRCA-like phenocopies among sporadic tumors and thus extend clinical indications for the use of BRCA-specific therapies...
2016: Hereditary Cancer in Clinical Practice
Nathan D Farley, Thérèse M Sassalos, Michael D Ober
PURPOSE: To report a case of epiretinal membrane and myelinated nerve fiber layer, which preceded the diagnosis of basal cell nevus syndrome, in a young girl. METHODS: Observational case report. RESULTS: A 12-year-old girl was referred for an asymptomatic epiretinal membrane. Examination revealed epiretinal membrane in the right eye without posterior vitreous separation or vitreous abnormality and bilateral myelinated nerve fiber layer. Subsequent workup yielded pathologic diagnosis of multiple skin basal cell carcinoma and odontogenic keratocysts in the jaw...
January 2017: Retinal Cases & Brief Reports
Marco Stieger, Robert E Hunger
BACKGROUND: Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is characterized by developing multiple basal cell carcinomas (BCCs) in adolescent patients. Other clinical features include mandibular keratocysts, palmar and plantar pits, skeletal abnormalities and malformations central nervous system and genital tract...
2016: Dermatology: International Journal for Clinical and Investigative Dermatology
Arianna L Kim, Jung Ho Back, Yucui Zhu, Xiuwei Tang, Nathan P Yardley, Katherine J Kim, Mohammad Athar, David R Bickers
Patients with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, develop numerous basal cell carcinomas (BCC) due to germline mutations in the tumor suppressor PTCH1 and aberrant activation of Hedgehog (Hh) signaling. Therapies targeted at components of the Hh pathway, including the smoothened (SMO) inhibitor vismodegib, can ablate these tumors clinically, but tumors recur upon drug discontinuation. Using SKH1-Ptch1(+/-) as a model that closely mimics the spontaneous and accelerated growth pattern of BCCs in patients with BCNS, we show that AKT1, a serine/threonine protein kinase, is intrinsically activated in keratinocytes derived from the skin of newborn Ptch1(+/-) mice in the absence of carcinogenic stimuli...
October 2016: Cancer Prevention Research
Treville Pereira, Avinash Tamgadge, Swati Sapdhare, Ashwini Pujar
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...
July 2015: Annals of Maxillofacial Surgery
Scott C Bresler, Bonnie L Padwa, Scott R Granter
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...
June 2016: Head and Neck Pathology
Shalini V Mohan, Julia Chang, Shufeng Li, A Solomon Henry, Douglas J Wood, Anne Lynn S Chang
IMPORTANCE: Smoothened inhibitors (SIs) are a new type of targeted therapy for advanced basal cell carcinoma (BCC), and their long-term effects, such as increased risk of subsequent malignancy, are still being explored. OBJECTIVE: To evaluate the risk of developing a non-BCC malignancy after SI exposure in patients with BCC. DESIGN, SETTING, AND PARTICIPANTS: A case-control study at Stanford Medical Center, an academic hospital. Participants were higher-risk patients with BCC diagnosed from January 1, 1998, to December 31, 2014...
May 1, 2016: JAMA Dermatology
Z Khamaysi, R Bochner, M Indelman, L Magal, E Avitan-Hersh, O Sarig, E Sprecher, R Bergman
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...
July 2016: British Journal of Dermatology
Srikanth Thalakoti, Thomas Geller
Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors...
2015: Handbook of Clinical Neurology
Xinyi Yang, Scott M Dinehart
No abstract text is available yet for this article.
February 2016: JAMA Dermatology
Tiago Ribeiro Correia de Sá, Roberto Silva, José Manuel Lopes
Basal cell carcinoma (BCC) is the most common skin cancer worldwide with increasing incidence, but difficult to assess due to the current under registration practice. Despite the low mortality rate, BCC is a cause of great morbidity and an economic burden to health services. There are several risk factors that increase the risk of BCC and partly explain its incidence. Low-penetrance susceptibility alleles, as well as genetic alterations in signaling pathways, namely SHH pathway, also contribute to the carcinogenesis...
November 2015: Future Oncology
A M John, R A Schwartz
Basal cell naevus syndrome is an autosomal dominant disorder that stems from mutations in multiple genes, most commonly patched 1 (PTCH1). The classic triad of symptoms consists of basal cell carcinomas, jaw keratocysts and cerebral calcifications, although there are many other systemic manifestations. Because of the broad range of symptoms and development of several types of tumours, early diagnosis and close monitoring are essential to preserve quality of life. Targeting treatment is often difficult because of tumour prevalence...
January 2016: British Journal of Dermatology
Livia Cristina de Melo Pino, Laila Klotz de Almeida Balassiano, Marlene Sessim, Ana Paula Moura de Almeida, Vinicius Dequech Empinotti, Ivan Semenovitch, Curt Treu, Omar Lupi
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...
April 2016: International Journal of Dermatology
Vanja Vučićević Boras, Dora Gabrić, Vlaho Brailo, Nada Čikeš, Danko Velimir Vrdoljak
No abstract text is available yet for this article.
2015: Acta Dermatovenerologica Croatica: ADC
Jennifer L Hand
PURPOSE OF REVIEW: Common genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis, basal cell nevus syndrome (BCNS), incontinentia pigmenti, and X-linked ichthyosis have recognizable, cutaneous features. In children, cases often present without a prior diagnosis. This review highlights new information about diagnostic signs and care of affected patients. RECENT FINDINGS: Disruption of key regulatory pathways causes disorders such as BCNS, NF1, and tuberous sclerosis...
August 2015: Current Opinion in Pediatrics
S D Mathias, M M Chren, R D Crosby, H H Colwell, Y M Yim, C Reyes, D M Chen, S W Fosko
BACKGROUND: Patient-reported outcome (PRO) questionnaires were recently developed specifically for use with patients with advanced basal cell carcinoma (aBCC) and basal cell carcinoma naevus syndrome (BCCNS). OBJECTIVES: To evaluate the measurement properties of PRO questionnaires for use in patients with aBCC or BCCNS. METHODS: In total 129 patients from 10 clinical sites in the U.S.A. and the BCCNS Support Network completed the two newly developed questionnaires multiple times over 3 months...
September 2015: British Journal of Dermatology
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