CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis

Susanne Gantner; Arno Rütten; Luis Requena; Gerhard Gassenmaier; Michael Landthaler; Christian Hafner

doi:10.1111/cup.12377

CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis

J Cutan Pathol. 2014 Oct;41(10):787-90. doi: 10.1111/cup.12377. Epub 2014 Oct 18.

Authors

Susanne Gantner¹, Arno Rütten, Luis Requena, Gerhard Gassenmaier, Michael Landthaler, Christian Hafner

Affiliation

¹ Department of Dermatology, University of Regensburg, Regensburg, Germany.

PMID: 25093865
DOI: 10.1111/cup.12377

Abstract

CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woman presented with chronic verrucous and hyperkeratotic skin lesions involving the left genital area, left hand and left foot since childhood. The histopathologic findings were consistent with verruciform xanthoma. In correlation with the clinical picture of a linear lesion, the diagnosis of CHILD nevus was made. Subsequent genetic analysis identified a germline c.324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome. This syndrome can be associated with only minimal clinical symptoms. The anatomical distribution of the lesions, a static clinical course and the typical histopathologic features of a CHILD nevus can serve as the clue to a diagnosis of CHILD syndrome in such cases.

Keywords: CHILD nevus; CHILD syndrome; NSDHL mutation; epidermal nevus; verruciform xanthoma.

Publication types

Case Reports

MeSH terms

3-Hydroxysteroid Dehydrogenases / genetics
Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics
Abnormalities, Multiple / pathology*
Abnormalities, Multiple / therapy
Adult
Diagnosis, Differential
Female
Genetic Diseases, X-Linked / diagnosis
Genetic Diseases, X-Linked / genetics
Genetic Diseases, X-Linked / pathology*
Genetic Diseases, X-Linked / therapy
Humans
Ichthyosiform Erythroderma, Congenital / diagnosis
Ichthyosiform Erythroderma, Congenital / genetics
Ichthyosiform Erythroderma, Congenital / pathology*
Ichthyosiform Erythroderma, Congenital / therapy
Limb Deformities, Congenital / diagnosis
Limb Deformities, Congenital / genetics
Limb Deformities, Congenital / pathology*
Limb Deformities, Congenital / therapy
Mutation, Missense / genetics
Nevus / pathology
Nevus, Pigmented / pathology
Skin Diseases / pathology*
Syndrome
Treatment Outcome
Xanthomatosis / pathology*

Substances

3-Hydroxysteroid Dehydrogenases
Nsdhl protein, human

Supplementary concepts

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects