Keratosis palmoplantaris striata with mutations in desmoglein 1 Q82.8

Brünauer, 1923; Fuchs, 1924; Wachters, 1963

Autosomal dominant palmoplantar keratosis. Originally an island-like (Siemens) and a striate form (Brünauer-Fuchs) was described. Wachters was able to detect both types in one family.

Mutations in the desmoglein 1 gene (DSG1). The gene mutations lead to a disruption of desmoglein. Strict palmoplantar keratoses also occur with mutations in the desmoplakin gene and occasionally in the KRT1 gene (keratin1 gene).

Striate, islet or diffuse-membranous keratoses depending on the physical load. Remaining in areas of low stress, possible spread to the sides of the fingers and toes, rarely affecting the knees, elbows, back of the fingers. No association with further symptoms.

Conspicuous hyperkeratosis with suprabasal loosening with rounding of the keratinocytes.

1. Bergman R et al(2010) Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratoderma
   caused by DSG1 mutations. J Am Acad Dermatol 62:107-113.
2. Brünauer SR (1923) On the inheritance of the keratoma hereditarium palmare et plantar. Acta dermato-venerologica (Stockholm) 4: 489-503
3. Fuchs H (1924) On the knowledge of focal keratoses on hands and feet. Acta Derm Venereol 5: 11-58
4. Küster W et al (1995) Keratosis palmoplantaris striata Brünauer-Fuhs-Siemens - Clinical, lipidbiochemical and molecular biological investigations. Z Hautkr 70: 263-268
5. Lucker GP et al (1996) Keratosis palmoplantaris varians et punctata. Clinical variability of an single genetic defect? dermatologist 47: 858-859
6. Paoli S et al (1999) Keratosis palmoplantaris varians of Wachters. J Eur Acad Dermatol Venereol 12: 33-37
7. Wachters DHJ (1963) Over the various morphological antecedents of palmoplantar keratosis, in particular over the "keratosis palmoplantaris varians". Thesis, Leiden, The Netherlands, pp 49-67