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CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis
Author(s) -
Gantner Susanne,
Rütten Arno,
Requena Luis,
Gassenmaier Gerhard,
Landthaler Michael,
Hafner Christian
Publication year - 2014
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.12377
Subject(s) - medicine , dermatology , pathology , nevus , lesion , sex organ , xanthoma , skin lesion , melanoma , cancer research , biology , genetics
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.