FAMILIAL CUTANEOUS CYLINDROMAS - INVESTIGATIONS IN 5 GENERATIONS OF A FAMILY

Background: Multiple cutaneous cylindromas are probably inherited in an autosomal dominant way. Objective: Our purpose was to describe a large family with cutaneous cylindromas, trichoepitheliomas, and milia occurring in five generations and to elucidate further the mode of inheritance. Methods: We examined 39 family members and obtained information on 31 other members from reports of relatives. Results: The pedigree included 237 members, 118 male and 119 female, with 30 affected patients (11 male, 19 female). Between 33% and 100% of the children of affected family members had one or more of these skin lesions. Female-to-female, female-to-male, male-to-female, and male-to-male inheritance occurred. Conclusion: Multiple cutaneous cylindromas are inherited in an autosomal dominant way with variable clinical expression. Penetrance reaches 100% in adult life. This condition is associated with trichoepitheliomas and milia.