Conradi‐Hünermann‐Happle syndrome with minimal signs-Reference-Cited by-同舟云学术

Conradi‐Hünermann‐Happle syndrome with minimal signs

Published:2021-11 Issue:6 Volume:38 Page:1592-1593
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Agud‐Dios Manuel¹,Ortiz Cabrera Nelmar Valentina²,Noguera‐Morel Lucero¹^ORCID,Hernández‐Martín Angela¹,Colmenero Isabel³^ORCID,Happle Rudolf⁴,Torrelo Antonio¹^ORCID

Affiliation:

1. Department of Dermatology Hospital Infantil Universitario Niño Jesús Madrid Spain

2. Department of Genetics Hospital Infantil Universitario Niño Jesús Madrid Spain

3. Department of Pathology Hospital Infantil Universitario Niño Jesús Madrid Spain

4. Department of Dermatology Medical Center University of Freiburg Freiburg Germany

Abstract

AbstractA 4‐year‐old girl presented with congenital patches of scalp alopecia, which on physical examination, was consistent with blaschkolinear alopecic patches with mild epidermal atrophy. Similar atrophic hypopigmented patches were seen on the trunk and proximal extremities. With the clinical suspicion of Conradi‐Hünermann‐Happle syndrome, genetic testing was performed and revealed a mutation in the EBP gene. Despite characteristic cutaneous findings, no skeletal, ocular, or other anomalies were found on further evaluation.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14852

Reference5 articles.

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3. Conradi-Hünermann-Happle Syndrome (X-linked Dominant Chondrodysplasia Punctata) Confirmed by Plasma Sterol and Mutation Analysis

4. Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation

5. Evidence of Postzygotic Mosaicism in a Transmitted Form of Conradi-H ünermann-Happle Syndrome Associated With a Novel <emph type="ital">EBP</emph> Mutation

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