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Nevoid Basal Cell Carcinoma Syndrome: A Review

Author

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  • Saleh Binsheikhan

    (NMC Royal Hospital, UAE)

  • Saurabh Mittal

    (NMC Royal Hospital, UAE)

  • Mohammed Al Abadie

    (North Cumbria Integrated Care NHS Foundation Trust University of Central Lancashire (UCLAN), United Kingdom)

Abstract

Introduction: Gorlin syndrome (GS) or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCCs) at a young age. NBCCS occurs because of mutations in the PTCH1 gene, which functions as a tumour suppressor gene. Patients with GS can have varied manifestations, both cutaneous and extra-cutaneous. The most notable cutaneous manifestations are BCCs, which are also the most characteristic tumours in GS, and palmar/plantar pits. Besides the BCC, medulloblastomas are the second most characteristic malignant presentation. There are a set of criteria for the diagnosis of GS, which have a high predictability in making an accurate diagnosis of GS. Genetic testing for PTCH1 gene is one of the diagnostic criteria, which is positive in about 60% of patients. Patients with GS need a multidisciplinary approach. Mohs micrographic surgery is recommended for BCCs on high risk areas. SMO receptor inhibitors such as Vismodegib and Sonidegib have been approved by FDA for the treatment of advanced BCCs.

Suggested Citation

  • Saleh Binsheikhan & Saurabh Mittal & Mohammed Al Abadie, 2023. "Nevoid Basal Cell Carcinoma Syndrome: A Review," European Journal of Medical and Health Sciences, European Open Science, vol. 5(1), pages 32-34, January.
    • Handle: RePEc:epw:ejmed0:v:5:y:2023:i:1:id:41597
    DOI: 10.24018/ejmed.2023.5.1.1597
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