Linear and disseminated porokeratosis in one family showing identical and independent second hits in MVD among skin lesions, respectively: A proof of concept study.

Linear and disseminated porokeratosis in one family showing identical and independent second hits in MVD among skin lesions, respectively: A proof of concept study.
Br J Dermatol. 2021 Jan 22;:
Authors: Shiiya C, Aoki S, Nakabayashi K, Hata K, Amagai M, Kubo A
Abstract
Porokeratosis is an autosomal dominant skin disorder characterized by annular or circular skin lesions surrounded by a hyperkeratotic rim called "cornoid lamella".1 Clinical subtypes of porokeratosis have been classified mostly based on age at onset, and the distribution and size of skin lesions.1 It has been demonstrated that most patients with porokeratosis have a heterozygous germline mutation in genes that encode enzymes of the mevalonate pathway, MVK, MVD, PMVK, or FDPS, in both familial and sporadic cases.
PMID: 33481264 [PubMed - as supplied by publisher]

Source: The British Journal of Dermatology - January 22, 2021 Category: Dermatology Authors: Shiiya C, Aoki S, Nakabayashi K, Hata K, Amagai M, Kubo A Tags: Br J Dermatol Source Type: research