Keratosis follicularis acneiformis, Siemens type Q82.8

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.

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).

Keratosis follicularis epidemica (has only historical significance)

Pachyonychia congenita

Pityriasis rubra pilaris.

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.