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  • Title: [Conradi-Hünermann-Happle syndrome with unilateral distribution].
    Author: Hello M, David A, Barbarot S.
    Journal: Ann Dermatol Venereol; 2010 Jan; 137(1):44-7. PubMed ID: 20110068.
    Abstract:
    BACKGROUND: X-linked dominant chondrodysplasia punctata, also known as Conradi-Hünermann-Happle syndrome or CDPX2, is a rare type of genodermatosis with heterogeneous clinical phenotypes. It is characterized by the association of usually bilateral and symmetrical Blaschko-linear cutaneous lesions, ocular involvement, morphological, and skeletal abnormalities (characteristic punctuate epiphyseal calcifications). CASE REPORT: A female newborn was examined for a squamous glazed erythema mainly located on the left half of the body. Standard X-rays of the left wrist showed punctuate epiphyseal calcifications. The diagnosis was confirmed by molecular studies, which revealed a mutation on the gene encoding the 3beta-hydroxy-steroid-Delta(8), Delta(7)-isomerase. DISCUSSION: We report the case of a baby girl with mainly unilateral skin lesions of CDPX2, possibly due to mosaicism associated with X-inactivation. A diagnosis of CDPX2 must be considered in the event of a female newborn with ichthyosiform Blaschko-linear cutaneous lesions of atypical topography.
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