Hypoplastic thumb in Gorlin's syndrome

Gorlin's syndrome or naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas. This condition is due to mutations in the Patched (PTCH) gene which maps to chromosome 9q22 and acts as a tumour suppressor gene. Gorlin's syndrome is characterized by the development of multiple jaw keratocysts and/or basal carcinomas. There is a distinctive coarse facial appearance with macrocephaly, frontal bossing and prognathism. Most individuals have skeletal anomalies such as bifid ribs or wedge-shaped vertebrae. We present a case in which the patient presented with bilateral thumb hypoplasia. Various hand deformities have been reported in patients with Gorlin's syndrome including short metacarpals, cutaneous syndactyly of the second and third fingers, and pre- or post-axial polydactyly, but hypoplasia of the thumb has not been reported previously. These features of Gorlin's syndrome may be helpful diagnostically. The thumbs should be examined carefully in Gorlin's syndrome patients as minor degrees of hypoplasia are easy to miss. However, they still needs a specialist input to give the patient an optimum function of the thumb and the hand.