Keratosis palmoplantaris diffusa with mutations in keratin 9 Q82.8

Author: Prof. Dr. med. Peter Altmeyer

Co-Autor: Alexandros Zarotis

All authors of this article

Last updated on: 29.10.2020

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Synonym(s)

Diffuse epidermolytic palmoplantar keratosis; Hereditary palmoplantar keratoderma; Ichthyosis of the hands and feet; Keratosis palmoplantaris diffusa circumscripta; Keratosis plamoplantaris diffusa; Keratosis plamoplantaris diffusa type Voerner; Keratosis plamoplantaris diffusa type Vörner; MIM 144200; palmoplantar keratoderma; Palmoplantar keratosis type Norbotten; Unna-Thost disease

Definition
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Genetically heterogeneous disease group. There is now doubt about the autonomy of keratosis palmoplantaris diffusa circumscripta type Unna-Thost (in most of the cases investigated, epidermolytic hyperkeratosis was detectable and thus to be assigned to the type Vörner ). In 1989 and 1994 cases of diffuse PKK were described (type Norbotten), in which the signs of epidermolytic hyperkeratosis were missing (for the classification of palmoplantar keratoses see below keratosis palmoplantaris).

Etiopathogenesis
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Autosomal dominant inherited palmoplantar cornification disorder.

Norbotten type is an autosomal-dominantly inherited, non-epidermolytic palmoplantar keratosis, which is caused by a mutation in the AQP5 gene on 12q13.12. In another family, mutations were found in the V1 section of the domain of keratin 1. Coincidence with atopic eczema has been reported.

Manifestation
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Occurs in the 1st or 2nd year of life.

Localization
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Symmetrical on palms of hands and soles of feet.

Clinical features
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Thick, waxy, yellowish, possibly cracked, plate-like horny layer, which covers the entire palm of the hand and also the sole of the foot. It is sharply separated from the normal skin by a pinkish red seam. The mobility of the hands is often limited, fingernails usually grow abnormally like a watch glass, and the sense of touch and temperature can be disturbed.

Occasionally there are brownish ankle pad-like hyperkeratoses (knuckle pads)

After strong mechanical stress, especially in combination with heat, exacerbations with painful rhagade formation are possible.

Hyperhidrosis often exists. The keratoses macerate and decompose, accompanied by a foetus that smells bad.

There is a danger of mycotic or bacterial superinfections.

Histology
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Massive thickening of the horny layer focally with epidermolytic hyperkeratosis.

Differential diagnosis
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Keratosis palmoplantaris cum degeneratione granulosa.

External therapy
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Symptomatic: In case of mycotic or bacterial overlay, appropriate local therapy with local disinfectants or antimycotics. Intensive and consequent care of the hyperkeratotic areas with salicylic acid containing R227 or urea containing ointments R106; if necessary under hourly occlusion.

Supplementary: Mechanical removal with a corneal plane or pumice stone after a 10-15 minute soft soap bath.

Internal therapy
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Retinoids such as acitretin (neotigason) in an initial dosage of 0.5-1.0 mg/kg bw are able to detach the surface keratoses. However, this therapy proves to be unsuccessful in the long run, as it leads to blister and rhagade formation in mechanically stressed areas. The skin lesions recur after discontinuation of the therapy.

Progression/forecast
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The cornification disorder remains for life. No significant remissions are observed. Reinforcement by mechanical stress.

Literature
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  1. Devos SA, Delescluse J (2003) An unusual case of palmoplantar keratoderma. J Eur Acad Dermatol Venereol 17: 68-69
  2. Gamborg N et al (1994) The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norbotten). Dermatology 188: 188-193
  3. Lu Y et al (2003) A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. At J Med Genet 120: 345-349
  4. Loh Teck-Hiong et al (2003) Palmar-plantar keratoderma of Unna Thost associated with atopic dermatitis: An underrecognized entity? Pediatric Dermatol 20: 195-198
  5. Steijlen FM et al (1999) Palmoplantar keratoses. In: Traupe H, Hamm H (eds) Pediatric Dermatology, Springer Verlag Berlin Heidelberg New York 71-72
  6. Thost A (1880) About hereditary ichthyosis palmaris et plantaris corneae. Inaugural dissertation. Heidelberg
  7. Unna PG (1883) About the Keratoderma palmare et planttare hereditarium. A study on kerato-nosology. Arch Dermatol Syph (Berlin) 15: 231-270
  8. Vorner H (1901) For the knowledge of Keratoma hereditarium palmare et plantar. Arch Derm Syph 56: 3-31

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Last updated on: 29.10.2020