Pachyonychia congenita type I (Jadassohn-Lewandowsky)

Background: Pachyonychia congenita is considered to be a genodermatosis of autosomal inheritance. It is characterized by nail hypertrophy, shortly pre sent after birth. Later on follicular keratosis of the extremities and hype rkeratosis of palms and soles can be found. History and clinical findings: We report a child with pachyonychia congenit a type-I (Jadassohn-Lewandowsky). Shortly after birth nail hypertrophy of a ll finger- and toenails and leukoplakia of the palate and tongue were found . At the age of 3 years follicular keratosis of the extremities and plantar bullae could be found additionally. Conclusion: The underlying disturbance is a mutation within genes far kerat in 6, 16 and 17 which leads to formation of abnormal tonofilaments. In adul t patients retinoids can be used for symptomatic treatment especially of th e palmoplantar keratosis.