Keratosis palmoplantaris striata with mutations in desmoglein 1

Last Updated: 2023-07-07

Author(s): Anzengruber F., Navarini A.

ICD11: -

Synonym (s)

Keratosis palmoplantaris varians

Definition

Palmoplantar keratoses with mutation in desmoglein- 1 gene.

Etiopathogenesis

Autosomal dominant mutation in the desmoglein 1 gene.

Clinical features

Punctate hyperkeratoses palmoplantar.

Linear, partly dolente spread of the hyperkeratoses to the fingers.

Diagnosis

Anamnesis

Clinical

Genetic examination

Dermatopathology

Hyperkeratosis, partly acantholysis.

Therapy

Keratolysis.

Refatting.

Trials Acitretin 0.1 mg per kg bw daily.

References

Nomura T, Mizuno O, Miyauchi T, Suzuki S, Shinkuma S, Hata H, Fujita Y, Akiyama M, Shimizu H. Mutations in desmoglein 1 cause diverse inherited palmoplantar keratodermaphenotypes: implications for genetic screening. Br J Dermatol. 2017 May;176(5):1345-1350.
Nomura T, Mizuno O, Miyauchi T, Suzuki S, Shinkuma S, Hata H, Fujita Y, Akiyama M, Shimizu H. Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7. Acta Derm Venereol. 2017 Mar 10;97(3):399-401.
Nomura T, Mizuno O, Miyauchi T, Suzuki S, Shinkuma S, Hata H, Fujita Y, Akiyama M, Shimizu H. Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations. J Dermatol Sci. 2015 Dec;80(3):223-5.