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Category: Volume 07 Issue 08 August 2019
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Title: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects – A rare entity

Authors: Dr Amit Chauhan, Dr Ghanshyam Verma, Dr Geeta Ram Tegta, Dr Pranjal Joshi, Dr Ajeet Negi

 DOI: https://dx.doi.org/10.18535/jmscr/v7i8.12

Abstract

Introduction

CHILD Syndrome as proposed by Happle et al.1 in 1980 as an acronym to represent a particular phenotype within the heterogenous group of epidermic nevi syndromes characterised by the three main alterations that is Congenital Hemidysplasia, Icthyosiform erythroderma and Limb Defects. Same author, in 1987, replaced the term icthyosiform erythroderma by icthyosiform nevus (CHILD nevus). CHILD syndrome represents a rare multisystemic disorder with only about 60 cases reported in literature till date.2Inherited as X-linked dominant trait, it carries lethality for male embryos. The underlying mutations of the NSDHL gene (NAD[P] H steroid dehydrogenase–like protein) at Xq28 (Online Mendelian Inheritance in Man300275) involve the cholesterol biosyntheticpathway.3Characteristic clinical featuresare a peculiar inflammatory skin disorder called CHILD nevus, with aunique lateralization pattern with strictmidline demarcation and ptychotropism (affinity to body folds).4 Associated ipsilateral extracutaneous defects in the form of hypoplasia or aplasia may involve the limbsand other skeletal structures, as well as the viscera, such as lung, heart, and kidney.1

References

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Corresponding Author

Dr Amit Chauhan

Ex resident, Department of Dermatology, Indira Gandhi Medical College, Shimla, HP