Keratosis palmoplantaris diffusa with mutation in keratin 1 Q82.8

Autosomal-dominant inherited, initially limited to Palmae and Plantae, and later spread over the edges of the hands and feet, on the extensor sides (progressive), wrists, heels, forearms and legs (transgradient) cornification disorder. Hyperkeratotic changes in the knees and elbows can also occur. For the classification of palmoplantar keratoses see below: Keratosis palmoplantaris).

It is possible that several mutations underlie the phenotype. An autosomal-dominantly inherited mutation in keratin gene 1 (KRT1), which is assigned to gene locus 1p36.2-p34 and encodes a corresponding structural protein, was detected. In contrast to keratin 9, keratin 1 is expressed throughout the integument suprabasally in the epidermis. This also explains possibilities of spreading of "palmoplantar keratosis" to the rest of the integument.

Pronounced planar, waxy brownish yellow hyperkeratoses, usually involving brownish hyperkeratotic plaques on the dorsum of the hands and feet and in the heels (Achilles tendon). The course of the disease in childhood is much more severe than in advanced adulthood; occasional spontaneous involution after the 50th LJ.

Associated symptoms: brachyphalangia, hyperhidrosis, onychodystrophy.

Minimal variant is considered to be an epidermolytic nevus in which a somatic KRT1 mutation is present.

1. Gach JE et al (2005) Two families with Greither`s syndrome caused by a keratin 1 mutation. J Am Dermatol 53: 225-230
2. Greither A (1952) Keratosis hereditaria progrediens with dominant inheritance. Dermatologist 3: 198-203
3. Tay YK (2003) What syndrome is this? Greither syndrome. Pediatric Dermatol 20: 272-275