Pachyonychia congenita with laryngeal involvement

Pachyonychia congenita (Jadassohn-Lewandowsky Syndrome) is a rare autosomal dominant disorder characterized by nail dystrophy, hyperkeratosis of the palms and soles, leukoplakia of the mucosa of the upper respiratory tract and anus, follicular keratoses especially about the knees and elbows, and palmar and plantar hyperhidrosis. We present a patient with pachyonychia congenita and an exophytic lesion in the larynx at the posterior commissure. He is the youngest of 4 family members with this disorder covering 3 generations. Each of the 4 patients also exhibited both oral leukoplakia compatible with the Jadassohn-Lewandowsky syndrome (Ikonograph Dermatol. Lab., 1 (1906) p. 29), and subcutaneous cysts of the face and scalp as described by Jackson and Lawler (Ann. Eugenics (1951) 142.