[Conradi-Hünermann-Happle syndrome with unilateral distribution].
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).


METHODS
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.


CONCLUSIONS
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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Clinique dermatologique, Hôtel-Dieu, CHU de Nantes, place Alexis-Ricordeau, 44035 Nantes cedex 1, France.
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Barbarot
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D002806:Chondrodysplasia Punctata / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009024:Morphogenesis; D013251:Steroid Isomerases / Q000172:deficiency / Q000235:genetics; D049951:X Chromosome Inactivation
D013251:Steroid Isomerases; C090445:EBP protein, human