Multiple acral fibromas in a patient with familial retinoblastoma: a cutaneous marker of tumour-suppressor gene germline mutation?

Abstract

We report a 40-year-old patient with familial retinoblastoma also affecting his elder son, who developed multiple fibromas on the periungual or subungual areas of all the fingers. Molecular analysis disclosed a loss of heterozygosity for the RB1 gene in the larger tumour, with disappearance of the normal allele and persistence of the mutated allele only. The similarity of this observation with distal fibrous tumours encountered in other diseases with germline mutations of tumour-suppressor genes such as neurofibromatosis type 1, tuberous sclerosis and multiple endocrine neoplasia type 1 led to the hypothesis that multiple acral benign tumours with a fibrous component might be a cutaneous marker of tumour suppressor gene germline mutation with low sensitivity but high specificity.