Atypical aplasia cutis in association with Xia Gibbs syndrome

Carter Ellis; Gurpur Shashidhar Pai; Lara Wine Lee

doi:10.1111/pde.14515

Atypical aplasia cutis in association with Xia Gibbs syndrome

Pediatr Dermatol. 2021 Mar;38(2):533-535. doi: 10.1111/pde.14515. Epub 2021 Jan 19.

Authors

Carter Ellis¹, Gurpur Shashidhar Pai², Lara Wine Lee³

Affiliations

¹ College of Medicine, Medical University of South Carolina, Charleston, SC, USA.
² Department of Genetics, Medical University of South Carolina, Charleston, SC, USA.
³ Department of Dermatology and Dermatologic Surgery and Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA.

PMID: 33464633
DOI: 10.1111/pde.14515

Abstract

Xia Gibbs syndrome is a genetic disorder first defined in 2014 characterized by hypotonia, intellectual disability, global developmental delay, and dysmorphic facial features. While many additional features may be present, there are few reports of dermatologic findings. We report a case of atypical aplasia cutis in a female infant who was found to have Xia Gibbs syndrome. This case highlights consideration of cutaneous manifestations of Xia Gibbs syndrome which may aid in diagnosis.

Keywords: AHDC1; AT-Hook DNA Binding Motif Containing 1 gene; Xia Gibbs; aplasia cutis; cutis aplasia.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple* / diagnosis
Ectodermal Dysplasia* / complications
Ectodermal Dysplasia* / diagnosis
Female
Humans
Infant
Intellectual Disability* / diagnosis
Musculoskeletal Abnormalities*