Atypical aplasia cutis in association with Xia Gibbs syndrome

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.

Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review

“…Interestingly, patient 5 presented with congenital aplasia cutis and had a first clinical diagnosis of Ear-Scalp-Nipple syndrome (Marneros et al, 2013), due to the association of aplasia cutis of the scalp with cup-shaped ears, asymmetric nipples, and developmental delay. Aplasia cutis has been occasionally described in previous studies (Chander et al, 2021;Ellis et al, 2021;Murdock et al, 2019;Ritter et al, 2018) and could be considered as a rare specific marker for the syndrome.…”

Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report

“…Xia–Gibbs syndrome (XGS) is an autosomal dominant genetic disease caused by mutation of the AT-Hook DNA-binding motif-containing protein 1 ( AHDC1 ) gene. Typical features include global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, micrognathia, and other mild dysmorphic features[ 1 , 2 ]. The AHDC1 gene is located on the short arm of chromosome 1 within the cytogenetic band 1p36.11, and consists of seven exons with only one coding exon (exon 6), five noncoding 5 exons, and a noncoding 3 exon[ 3 ].…”