Keratosis palmoplantaris diffusa with mutation in keratin 1 Q82.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 17.01.2022

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Synonym(s)

Greither's disease; Greither Syndrome; hereditary palmoplantar keratoderma greither`s type; Keratodermia palmoplantaris progressive; Keratosis extremitatum hereditaria progrediens; Keratosis extremitatum hereditaria transgrediens et progrediens; Keratosis palmoplantaris diffusa type Greither; Keratosis palmoplantaris transgrediens; Keratosis palmoplantaris transgrediens type Greither; Keratosis palmoplantaris type Greither; Keratosis plamoplantaris diffusa transgrediens et progrediens (Greither); MIM 144200; Palmoplantar keratosis type Greither

History
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Greither, 1952

Definition
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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).

Etiopathogenesis
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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.

Manifestation
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Begins in childhood, usually 2nd-10th LJ, occasionally earlier.

Clinical features
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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.

Differential diagnosis
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Therapy
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Corresponding to the keratosis palmoplantaris.

Literature
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  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

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 17.01.2022