Nevoid Basal Cell Carcinoma Syndrome: Three Cases from the Same Family

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease caused by PTCH gene mutation. Despite sporadic cases and case series reported worldwide, few pedigrees have been described. In this report, we showed 3 cases from the same family, all presenting with multiple craniofacial basal cell carcinoma (BCC) and spot-like depressions of the palm, with or without mandibular cysts and metacarpal malformations. Whole-genome sequencing revealed heterozygous missense mutation of PTCH-1 gene (c.1526G>A) in these patients, led to a diagnosis of NBCCS. Early recognition of NCBBS is of great significance to avoid disease progression.

• Publication year

  2025

• Venue

  Indian Journal of Dermatology

• Publication date

  2025-10-31

• Fields of study

  Medicine

• Identifiers
  DOI 10.4103/ijd.ijd_3_23PMID 41262265PMCID 12626366
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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