scholarly journals Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children

2021 ◽  
Vol 3 (5) ◽  
pp. 15-17
Author(s):  
S. Binsheikhan ◽  
S. Mittal ◽  
M. Al Abadie
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Genetic Disorder ◽  
Female Child ◽  
Treatment Modalities ◽  
Gorlin Syndrome ◽  
Cutaneous Manifestations ◽  
Basal Cell Carcinomas ◽  
Multiple Basal Cell Carcinomas

Introduction: Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCC) at a young age. Case report: A 7 year female child presented with MULTIPLE skin growths on the neck, face and upper chest for 3 years, with prominent forehead and mild non-scarring alopecia. She also had a history of medulloblastoma treated 3 years ago. There was no significant family history. Biopsy from one of the lesions showed basal cell carcinoma (BCC). Discussion: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder caused by mutations in the tumour suppressor patched 1 (PTCH-1) gene. Patients present with both cutaneous and extra-cutaneous manifestations. Multiple basal cell carcinomas (BCCs) are one of the most frequent cutaneous manifestations, occurring on both photo-exposed and non-exposed areas. The commonest extra-cutaneous tumours are medulloblastomas, which are often the first presentation of the disease. There are multiple but no established treatment modalities for the disease.

scholarly journals The Role of Dermal Fibroblasts in Nevoid Basal Cell Carcinoma Syndrome Patients: An Overview

2020 ◽  
Vol 21 (3) ◽  
pp. 720 ◽  
Author(s):  
Barbara Bellei ◽  
Silvia Caputo ◽  
Anna Carbone ◽  
Vitaliano Silipo ◽  
Federica Papaccio ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Genetic Disorder ◽  
Dermal Fibroblasts ◽  
Phenotypic Traits ◽  
Skin Area ◽  
Gorlin Syndrome ◽  
Activated State ◽  
The Impact

Nevoid basal cell carcinoma syndrome (NBCCS), also named Gorlin syndrome, is a rare multisystem genetic disorder characterized by marked predisposition to basal cell carcinomas (BCCs), childhood medulloblastomas, maxillary keratocysts, celebral calcifications, in addition to various skeletal and soft tissue developmental abnormalities. Mutations in the tumor suppressor gene PATCHED1 (PTCH1) have been found to be associated in the majority of NBCCS cases. PATCH1 somatic mutations and loss of heterozygosity are also very frequent in sporadic BCCs. Unlike non-syndromic patients, NBCCS patients develop multiple BCCs in sun-protected skin area starting from early adulthood. Recent studies suggest that dermo/epidermal interaction could be implicated in BCC predisposition. According to this idea, NBCCS fibroblasts, sharing with keratinocytes the same PTCH1 germline mutation and consequent constitutive activation of the Hh pathway, display features of carcinoma-associated fibroblasts (CAF). This phenotypic traits include the overexpression of growth factors, specific microRNAs profile, modification of extracellular matrix and basement membrane composition, increased cytokines and pro-angiogenic factors secretion, and a complex alteration of the Wnt/β-catenin pathway. Here, we review studies about the involvement of dermal fibroblasts in BCC predisposition of Gorlin syndrome patients. Further, we matched the emerged NBCCS fibroblast profile to those of CAF to compare the impact of cell autonomous “pre-activated state” due to PTCH1 mutations to those of skin tumor stroma.

scholarly journals Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Shoko Onodera ◽  
Nana Morita ◽  
Yuriko Nakamura ◽  
Shinichi Takahashi ◽  
Kazuhiko Hashimoto ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Somatic Mutations ◽  
Enrichment Analysis ◽  
Sequencing Analysis ◽  
Gorlin Syndrome ◽  
Driver Genes ◽  
Aged Patients ◽  
Basal Cell Carcinomas

Abstract Background Basal cell carcinoma (BCC) is the most commonly occurring neoplasm in patients with Gorlin syndrome. It is widely accepted that multiple basal cell carcinomas simultaneously develop in middle-aged patients with this syndrome. However, the presence of driver genes other than the PTCH1 in Gorlin syndrome has not been explored. This study aimed to identify common gene mutations other than PTCH1 in simultaneously occurring basal cell carcinomas in patients with Gorlin syndrome via exome sequencing analysis. Methods Next-generation sequencing analysis was performed using four basal cell carcinoma samples, one dental keratinocyte sample, and two epidermoid cyst samples, which were surgically resected from one patient with Gorlin syndrome on the same day. Results Overall, 282 somatic mutations were identified in the neoplasms. No additional somatic mutations in PTCH1, PTCH2, TP53, and SMO were identified. However, enrichment analysis showed that multiple genes, such as IFT172 and KIFAP3, could regulate ciliary functions important for Hedgehog signaling. Conclusion The development of BCCs in patients with Gorlin syndrome may be triggered by mutations that cause substantial dysfunction of cilia.

A rare presentation of multiple scrotal basal cell carcinomas secondary to Gorlin’s syndrome

2019 ◽  
pp. 205141581987292
Author(s):  
Pat Rohan ◽  
Christine Shilling ◽  
Nigam Shah ◽  
Padraig Daly ◽  
Ivor Cullen
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Locally Advanced ◽  
The Body ◽  
High Rate ◽  
De Novo Mutation ◽  
Gorlin Syndrome ◽  
Increased Risk ◽  
Basal Cell Carcinomas

Basal cell carcinoma is the most commonly occurring cancer worldwide but it is rarely seen in non-sun-exposed areas of the body such as the scrotum.1 Basal cell carcinomas account for 5–10% of all scrotal tumours.2,3 Scrotal basal cell carcinoma is considered more aggressive with higher rates of metastasis versus non-scrotal basal cell carcinoma.1 Gorlin syndrome or nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterised by the development of multiple basal cell carcinomas at a young age.4,5 Prevalence of nevoid basal cell carcinoma syndrome is reported to range from 1 in 57,000 to 1 in 164,000.5 We present the case of a 58-year-old gentleman with a 3-month history of bleeding scrotal and penile lesions. These lesions were excised with 2 cm margins and without complication. Histology showed surface ulceration with basaloid infiltrating tumour extending into the dermis. Given the potential for a very high rate of tumour occurrence within individuals, surgical management of basal cell carcinomas can result in significant, lifestyle-limiting disfigurement.5 As understanding of the pathogenesis of nevoid basal cell carcinoma syndrome has advanced, a number of targeted therapies have been developed.5 Vismodegib targets the Hedgehog signalling pathway and is used in the treatment of locally advanced and metastatic basal cell carcinomas. This represents a rare case of basal cell carcinoma of the scrotum associated with nevoid basal cell carcinoma syndrome caused by a de novo mutation. It is not clear from the literature whether incidence of scrotal tumours is increased in Gorlin syndrome but given the increased risk of basal cell carcinoma elsewhere, it may be prudent for those with known Gorlin syndrome to regularly examine the scrotal skin along with recommended frequent dermatologic surveillance. Level of evidence: 5.

scholarly journals Gorlin-Goltz syndrome: systemic and maxillofacial characteristics

2020 ◽  
Vol 10 (1) ◽  
pp. 49-54
Author(s):  
Jefferson David Melo de Matos ◽  
Leonardo Jiro Nomura Nakano ◽  
Pedro Jacy Santos Diamantino ◽  
Guilherme da Rocha Scalzer Lopes ◽  
Marco Antonio Bottino ◽  
...  
Keyword(s):  
Case Report ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Genetic Disorder ◽  
Suppressor Gene ◽  
Skeletal Malformations ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas ◽  
Endocrine Alterations

Gorlin-Goltz Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, is a rare genetic disorder characterized by the presence of multiple keratocysts in the jaw and basal cell carcinomas, at young age, of palmar and/or plantar depressions, of calcification of the sickle cerebral and skeletal malformations. This syndrome is caused by a mutation of the PTCH1 (patched homolog 1 from Drosophila) gene, a tumor suppressor gene. In this work, the systemic and maxillofacial characteristics of the Gorlin-Goltz syndrome, as well as some neurological, dermatological, musculoskeletal and endocrine alterations, are reviewed. In addition, a case report was added for the purpose of support this study.

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