title: CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.
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.
authors.affiliation: Department of Dermatology, University of Regensburg, Regensburg, Germany.
authors.forename: Susanne
authors.initials: S
authors.lastname: Gantner
authors.forename: Arno
authors.initials: A
authors.lastname: Rütten
authors.forename: Luis
authors.initials: L
authors.lastname: Requena
authors.forename: Gerhard
authors.initials: G
authors.lastname: Gassenmaier
authors.forename: Michael
authors.initials: M
authors.lastname: Landthaler
authors.forename: Christian
authors.initials: C
authors.lastname: Hafner
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D020125:Mutation, Missense / Q000235:genetics; D009506:Nevus / Q000473:pathology; D009508:Nevus, Pigmented / Q000473:pathology; D012871:Skin Diseases / Q000473:pathology*; D013577:Syndrome; D016896:Treatment Outcome; D014973:Xanthomatosis / Q000473:pathology*
chemical_list: D015096:3-Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human
keywords: CHILD nevus; CHILD syndrome; NSDHL mutation; epidermal nevus; verruciform xanthoma