Jadassohn Lewandowsky syndrome: Type 1 pachyonychia congenita

Abstract

Pachyonychia congenita (PC) is a rare, usually autosomal dominant, genodermatosis characterized by tetrad of wedge shaped nail hypertrophy, focal palmoplantar keratoderma, oral leucokeratosis and follicular hyperkeratosis due to mutation in either of the three keratin genes, KRT6, KRT16 and KRT17. Classically, it has been subdivided into 2 major types: PC-1 (Jadassohn Lewandowsky syndrome) and PC-2 (Jackson-Lawler syndrome) but, genotypically, now PC has been classified into 5 types depending upon the underlying keratin gene mutations: PC-K6a, PC-K6b, PC-K6c, PC-K16 and PC-K17. Since 1904 when Muller documented the first case of PC, around 700 cases have been reported till now. Hence, in the view of rarity of such crippling and debilitating dermatosis of congenital or early life onset, we herein report a clinically diagnosed case of Pachyonychia congenita- type 1(Jadassohn Lewandowsky syndrome) in a 16 years old girl with affection of 2 other members of her family with the same disorder.

Keywords

• Jadassohn Lewandowsky syndrome; Nail hypertrophy; Pachyonychia congenita