Hello M, David A, Barbarot S
Clinique dermatologique, Hôtel-Dieu, CHU de Nantes, place Alexis-Ricordeau, 44035 Nantes cedex 1, France.
Ann Dermatol Venereol. 2010 Jan;137(1):44-7. doi: 10.1016/j.annder.2009.11.006. Epub 2009 Dec 29.
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).
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.
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.
X连锁显性点状软骨发育不良，也称为康拉迪-许纳曼-哈普尔综合征或CDPX2，是一种罕见的遗传性皮肤病，临床表型多样。其特征通常为双侧对称的布拉斯科线样皮肤损害、眼部受累、形态学和骨骼异常（特征性点状骨骺钙化）。
一名女新生儿接受检查，发现主要位于身体左侧的鳞状光泽红斑。左手腕的标准X线片显示点状骨骺钙化。分子研究证实了诊断，该研究揭示了编码3β-羟基类固醇-δ(8)，δ(7)-异构酶的基因发生突变。
我们报告了一例主要表现为单侧皮肤损害的CDPX2女婴病例，可能是由于与X染色体失活相关的嵌合体所致。对于有非典型分布的鱼鳞病样布拉斯科线样皮肤损害的女新生儿，必须考虑CDPX2的诊断。
