Keratosis follicularis acneiformis, Siemens type Q82.8

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 22.08.2022

Dieser Artikel auf Deutsch

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

History
This section has been translated automatically.

Siemens, 1929

Definition
This 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.

Etiopathogenesis
This section has been translated automatically.

Autosomal dominant inherited.

Clinical features
This 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 diagnosis
This section has been translated automatically.

Therapy
This section has been translated automatically.

Externally according to the keratosis follicularis.

Internal therapy
This section has been translated automatically.

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

Progression/forecast
This section has been translated automatically.

Lifelong stationary condition.

Literature
This 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.

Disclaimer

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

Authors

Last updated on: 22.08.2022