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Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children

Author

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  • S. Binsheikhan

    (NMC Royal Hospital, United Arab Emirates)

  • S. Mittal

    (NMC Royal Hospital, United Arab Emirates)

  • M. Al Abadie

    (The Royal Wolverhampton NHS Trust, United Kingdom)

Abstract

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.

Suggested Citation

  • S. Binsheikhan & S. Mittal & M. Al Abadie, 2021. "Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children," European Journal of Medical and Health Sciences, European Open Science, vol. 3(5), pages 15-17, September.
    • Handle: RePEc:epw:ejmed0:v:3:y:2021:i:5:id:40888
    DOI: 10.24018/ejmed.2021.3.5.888
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