Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma

Basal cell nevus syndrome (BCNS), or Gorlin Syndrome, is an autosomal dominant disorder, characterized by multiple developmental abnormalities and associated with germline mutations in the PTCH gene. Patients show multiple and early onset basal cell carcinomas (BCCs) in skin, odontogeniccysts in the jaw, pits on palms and soles, medulloblastoma, hypertelorism, and calcification of the falx cerebri. Clinical features of BCCs in these patients are indistinguishable from ordinary BCCs. However, some patients show variable histologic findings in subtypes of BCCs, and only one case associated with several histologic types of BCCs in the syndrome has been reported in Korea. We present a case of BCNS characterized by multiple BCCs, odontogenic keratocysts, multiple palmar pits, and calcified falx cerebri. Histopathologic findings of BCCs showed several patterns, which were nodular, superficial, and pigmented types.

Basal cell nevus syndrome; Carcinoma, basal cell; Neoplasms by histologic type.