Pachyonychia congenita Typ II (Jackson-Lawler-Syndrom)

Abstract

Pachyonychia congenita (PC) is a rare ectodermal dysplasia with variable expression. The condition is usually inherited as an autosomal dominant trait. Several classifications of PC have been proposed. Feinstein and colleagues suggested four clinical types of PC. Type II, the Jackson-Lawler-Syndrome, is characterized by multiple epidermal cysts, palmoplantar bullae and hyperhidrosis as well as natal teeth in addition to the main findings of pachyonychia, palmoplantar hyperkeratosis and follicular keratosis. We report two patients (father and son) with Jackson-Lawler-Syndrome and describe in detail pathogenesis, diagnostic criteria and treatment approaches as well as the different classifications of pachyonychia congenita.