Progressive hyperpigmented rash in a 10‐year‐old boy
Author:
Affiliation:
1. Duke University School of Medicine Durham NC USA
2. Department of Dermatology Duke University School of Medicine Durham NC USA
3. Department of Pediatrics Duke University School of Medicine Durham NC USA
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology, and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14678
Reference12 articles.
1. Is erythrokeratoderma one disorder? A clinical and ultrastructural study of two siblings;Macfarlane AW;Br J Dermatol,1991
2. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype‐phenotype correlations;Richard G;J Invest Dermatol,2003
3. The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron;van Steensel M;Am J Med Genet A,2009
4. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss‐of‐function mutation of KRT83 and is allelic with dominant monilethrix;Shah K;J Med Genet,2017
5. Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma;Boyden LM;Am J Hum Genet,2017
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