Keratosis follicularis acneiformis, Siemens typeQ82.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 22.08.2022

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Synonym(s)

congenital polkeratosis; keratosis follicularis congenita (Siemens); Keratosis follicularis hereditaria Gertler; Keratosis multiformis; Keratosis multiformis idiopathica Siemens; Polykeratosis congenital; Polykeratosis Touraine; Siemens Syndrome II

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HistoryThis section has been translated automatically.

Siemens, 1929

DefinitionThis section has been translated automatically.

Very rare, hereditary (probably autosomal dominant) keratinization anomaly (genetic defect unknown) with disseminated, comedone-like, follicular keratoses, keratosis palmoplantaris, pachyonychia, onychogryposis and hyperhidrosis. In the mucosal area: lingua plicata, leukoplakia.

S. a. Keratosis follicularis spinulosa decalvans, with a similar clinical symptomatology, in which mutations in the MBTPS2 gene have been detected.

EtiopathogenesisThis section has been translated automatically.

Autosomal dominant inherited.

Clinical featuresThis section has been translated automatically.

Follicular acneiform hyperkeratoses on the extensor sides of the extremities and the glutaeal and perioral regions, disseminated palmoplantar keratoses with pemphigoid blistering under the plantar calluses, palmoplantar hyperhidrosis, leukoplakia of the oral mucosa, lingua plicata, and nail changes (pachonychia, onychogryposis, scleronychia; oligophrenia).

Differential diagnosisThis section has been translated automatically.

TherapyThis section has been translated automatically.

Externally according to the keratosis follicularis.

Internal therapyThis section has been translated automatically.

Trial with acitretin (neotigason) at a dosage of 0.5 mg/kg bw/day

Progression/forecastThis section has been translated automatically.

Lifelong stationary condition.

LiteratureThis section has been translated automatically.

  1. Alfadley A et al (2002) Two brothers with keratosis follicularis spinulosa decalvans. J Am Acad Dermatol 47(Suppl5): S275-278

  2. Aten E et al.(2010) Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. Hum Mutat 31:1125-1133

  3. Azakli HN et al (2014) Keratosis Follicularis Spinulosa Decalvans Associated wıth Leukonychia. West Indian Med J 63: 552-553

  4. Siemens HW (1929) Keratosis palmo-plantaris striata. Arch Dermatol 157: 392-408.

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Last updated on: 22.08.2022