Jadassohn-lewandowsky syndrome (pachyonychia congenita)

General: Autosomal dominant inheritance; three variants: type I has symmetric keratoses of 434g63e hands and feet and follicular keratosis of body; type II same as type I, plus leukokeratosis; type III same as type I with corneal changes; gene for this disorder has been found to be closely linked to the keratin gene cluster on 17q12-q21; disorder usually develops in early infancy.

Ocular: Dyskeratosis of the cornea; bilateral cataract.

Clinical: Keratosis and hyperhidrosis of palms and soles, whereas the remaining skin is usually rather dry; bullous lesions may occur with secondary infections, mainly during warm seasons; leukokeratosis of oral mucosa (mainly tongue); follicular keratosis; congenital pachyonychia (nails not only may be thickened but also may be frequently inflamed and lost with aggravation at sites of regrowth); hoarse voice; epidermoid cysts; oral leukokeratosis.

Banscher S. The Jadassohn-Lewandowsky Syndrome. Hautarzt

Neisser A, Jacobi E, eds. Ikonographia dermatologica. Berlin: Urban & Schwarzenberg, 1906:29.

Munro CS, et al. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. J Med Genet 1994; 31:675-678.

Oriba HA, et al. Callused feet, thick nails and white tongue. Pachyonychia congenita. Arch Dermatol 1991; 127:113-l14, 116-l17.

Paller AS, et al. Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita. Arch Dermatol 1991; 127:701-703.