Mosaic Variant in ATP2C1 Presenting as Relapsing Linear Acantholytic Dermatosis: Case Report.

Mosaic Variant in ATP2C1 Presenting as Relapsing Linear Acantholytic Dermatosis: Case Report.
Br J Dermatol. 2019 Oct 12;:
Authors: Katzman JA, Chavan R, Holliday A, Coman G, Grider D, Kolodney MS
Abstract
Relapsing Linear Acantholytic Dermatosis (RLAD) is a rare disease that manifests as recurring episodes of crusted and vesicular lesions distributed in a Blaschkoid pattern with histology resembling Hailey-Hailey or Darier's disease. RLAD is hypothesized to be a mosaic form of a known acantholytic disorder, but this hypothesis has lacked genetic conformation. To determine the genetic abnormalities causing RLAD, we performed exome sequencing of affected tissue and blood in a single subject. Exome sequencing of an punch biopsy revealed a c.238A>T, p.(Lys80*) variant in ATP2C1 found in 26% of the reads from lesional skin but absent in germline DNA. This somatic variant causes a truncated protein that would likely result in loss of function. Our findings indicate that, in this patient, RLAD is a clinical presentation of type one segmental Hailey-Hailey disease.
PMID: 31605620 [PubMed - as supplied by publisher]

Source: The British Journal of Dermatology - October 11, 2019 Category: Dermatology Authors: Katzman JA, Chavan R, Holliday A, Coman G, Grider D, Kolodney MS Tags: Br J Dermatol Source Type: research