Dystrophic calcifications point the way-Unusual and early diagnostic clue of Conradi-Hünermann-Happle syndrome

Kenneth Yu; Alexander T Reid; Stephanie J T Chen; Rajiv M Patel; Steven M Donn; Johann E Gudjonsson; Lori Lowe

doi:10.1016/j.jdcr.2017.10.018

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Dystrophic calcifications point the way-Unusual and early diagnostic clue of Conradi-Hünermann-Happle syndrome

Journal article

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Dystrophic calcifications point the way-Unusual and early diagnostic clue of Conradi-Hünermann-Happle syndrome

Kenneth Yu, Alexander T Reid, Stephanie J T Chen, Rajiv M Patel, Steven M Donn, Johann E Gudjonsson and Lori Lowe

JAAD Case Reports, Vol.4(4), pp.333-336

05/2018

DOI: 10.1016/j.jdcr.2017.10.018

PMCID: PMC5911813

PMID: 29693062

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Published (Version of record)JAAD Case Rep. 2018 Mar 31;4(4):333-336.

Abstract

Introduction: Conradi-Hünermann-Happle syndrome (chondrodysplasia punctata 2) is a rare X-linked dominant disorder of cholesterol metabolism that results in a spectrum of skeletal, cutaneous, and ocular abnormalities with an estimated prevalence of 1 in 100,000. The disorder results from a mutation in the emopamil-binding protein (EBP) gene encoding EBP, a 3β-hydroxysteroid-δ8, δ7-isomerase. The mutation is lethal in boys, but in girls it results in a mosaic pattern of congenital ichthyosiform erythroderma within the first months of life, evolving into linear follicular atrophoderma and hypopigmented whorls distributed along Blaschko lines. Additional extracutaneous clinical findings include short stature, rhizomelic shortening of the limbs, craniofacial defects, and cataracts. Here we report a case of Conradi-Hünermann-Happle syndrome diagnosed in the first week of life, highlighting the characteristic histopathologic findings that were helpful in establishing the diagnosis.

Dermatology

Medical Genetics

Pathology

Pediatrics

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Genetic Phenomena

Musculoskeletal, Neural, and Ocular Physiology

chondrodysplasia punctata

congenital ichthyosis

Conradi-Hünermann-Happle syndrome

intracorneal calcifications

case reports

EBP

Details

Title: Subtitle: Dystrophic calcifications point the way-Unusual and early diagnostic clue of Conradi-Hünermann-Happle syndrome
Creators: Kenneth Yu
Alexander T Reid
Stephanie J T Chen - University of Iowa
Rajiv M Patel
Steven M Donn
Johann E Gudjonsson
Lori Lowe
Resource Type: Journal article
Publication Details: JAAD Case Reports, Vol.4(4), pp.333-336
DOI: 10.1016/j.jdcr.2017.10.018
PMID: 29693062
PMCID: PMC5911813
ISSN: 2352-5126
Language: English
Date published: 05/2018
Academic Unit: Pathology
Record Identifier: 9983557323702771

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