Aplasia cutis congenita associated with a heterozygous loss-of-function UBA2 variant.

Aplasia cutis congenita associated with a heterozygous loss-of-function UBA2 variant.
Br J Dermatol. 2019 Oct 06;:
Authors: Wang Y, Dupuis L, Jobling R, Kannu P
Abstract
Aplasia cutis congenita (ACC) is an isolated or syndromic congenital skin defect with the absence of skin and occasionally subcutaneous tissue, commonly seen as localised lesions on the scalp vertex. Syndromic ACC is associated with limb, neurological, cardiovascular, gastrointestinal, genitourinary, placental, and dermatological anomalies.1 Familial reports of ACC suggest a Mendelian inheritance although the underlying genetics has not been completely clarified.2 Here we report a family with mother and son both affected by ACC and found to have a heterozygous variant in UBA2.
PMID: 31587267 [PubMed - as supplied by publisher]

Source: The British Journal of Dermatology - October 5, 2019 Category: Dermatology Authors: Wang Y, Dupuis L, Jobling R, Kannu P Tags: Br J Dermatol Source Type: research