Progressive hyperpigmented rash in a 10-year-old boy

Connie Scoggins¹, Neel Nath², Jane S Bellet^{2

3}

Affiliations

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.

Case Reports

Connie Scoggins et al. Pediatr Dermatol. 2021 Nov.

. 2021 Nov:38 Suppl 2:121-123.

doi: 10.1111/pde.14678.

Connie Scoggins¹, Neel Nath², Jane S Bellet^{2

3}

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.

No abstract available

Keywords: erythrokeratoderma; genetic disease; retinoid; tazarotene.

References

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1. Richard G, Brown N, Rouan F, et al. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003;120(4):601-609.
1. van Steensel M, Oranje AP, van der Schroeff JG, Wagner A, van Geel M. The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. Am J Med Genet A. 2009;149A(4):657-661.
1. Shah K, Ansar M, Mughal ZU, et al. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. J Med Genet. 2017;54(3):186-189.
1. Boyden LM, Vincent NG, Zhou J, et al. Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma. Am J Hum Genet. 2017;100(6):978-984.