Back to Search Start Over

PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review.

Authors :
Hu, Bin
Gong, Zhuoqing
Peng, Sha
Wang, Huijin
Chen, Liuqing
Lin, Zhimiao
Source :
Clinical & Experimental Dermatology. Sep2023, Vol. 48 Issue 9, p1052-1055. 4p. 1 Color Photograph, 1 Diagram, 1 Chart.
Publication Year :
2023

Abstract

Herein we report on a patient with PLACK syndrome carrying compound heterozygous variants in I CAST i and provide a literature review. Dear Editor, PLACK syndrome (OMIM #616295) refers to an extremely rare autosomal-recessive genodermatosis characterized by a constellation of peeling skin, leuconychia, acral punctate keratoses, cheilitis and knuckle pads. [Extracted from the article]

Details

Language :
English
ISSN :
03076938
Volume :
48
Issue :
9
Database :
Academic Search Index
Journal :
Clinical & Experimental Dermatology
Publication Type :
Academic Journal
Accession number :
172425551
Full Text :
https://doi.org/10.1093/ced/llad167