CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis. (18th October 2014)

• Record Type: Journal Article
• Authors: Gantner, Susanne; Rütten, Arno; Requena, Luis; Gassenmaier, Gerhard; Landthaler, Michael; Hafner, Christian
• Is Part Of: Journal of cutaneous pathology. Volume 41:Number 10(2014:Nov.)
• Page Start: 787
• Page End: 790
• Publication Date: 2014-10-18
• Subjects: Skin -- Diseases -- Periodicals; Dermatology -- Periodicals; 616
• DOI: 10.1111/cup.12377
• Languages: English
• ISSNs: 0303-6987

Abstract

<abstract abstract-type="main" id="cup12377-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cup12377-para-0001">CHILD syndrome is an acronym signifying <italic>congenital hemidysplasia with ichthyosiform nevus and limb defects</italic>. 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&gt;T (p.A105V) <italic>NSDHL</italic> 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.</p> </abstract>