Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation
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男性 CDPX2 患者，患有 EBP 嵌合体和不对称偏侧皮肤病变，中线分界严格
DOI：
10.1002/ajmg.a.61159
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发表时间：
2019
影响因子：
2
通讯作者：
Iijima Kazumoto
中科院分区：
文献类型：
--
作者：
Horinouchi Tomoko;Morisada Naoya;Uemura Hiroyasu;Kobayashi Daisuke;Nozu Kandai;Okamoto Nobuhiko;Iijima Kazumoto
由emopamil结合蛋白（EBP）基因突变引起的X连锁显性点状软骨发育不良（Conradi-Hunermann-Happle综合征，CDPX 2）和由NAD（P）H类固醇脱氢酶样（NSDHL）基因突变引起的先天性偏侧发育不良伴鱼鳞病样痣和肢体缺陷（CHILD）综合征是罕见的，通常为男性致死性疾病。CDPX 2皮肤病变的特征是遵循Blaschko线的短暂性重度先天性鱼鳞病，而在CHILD综合征中，病变显示出显著的偏侧性。在此，我们报告了一名男性CDPX 2患者，其EBP基因合子后嵌合体表现为单侧皮肤病变，有严格的中线分界，如CHILD综合征所见（尽管基于NSDHL分析排除了该诊断），但也部分分布于沿着Blaschko线，如CDPX 2所见。病变在几个月内消退，但患者有其他异常，包括四肢缩短，骨骺斑点和前臂不对称;他在出生后的前4年也有呼吸和喂养问题。脊柱后凸伴椎体发育不良进展迅速，6岁时需要后路脊柱融合术。这些发现为CDPX 2的病理生理学和发育过程中不对称病变形成的机制提供了见解。
X‐linked dominant chondrodysplasia punctata (Conradi–Hunermann–Happle syndrome, CDPX2) caused by mutations in the emopamil‐binding protein (EBP) gene and congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome caused by mutation in the NAD(P)H steroid dehydrogenase‐like (NSDHL) gene are rare, typically male lethal disorders. CDPX2 skin lesions are characterized by transient severe congenital ichthyosis following the lines of Blaschko, whereas in CHILD syndrome, the lesions show striking lateralization. Here, we report a male CDPX2 patient with postzygotic mosaicism of theEBPgene presenting with lateralized skin lesions with strict midline demarcation as seen in CHILD syndrome (although this diagnosis was ruled out based on analysis ofNSDHL), but also partly distributed along Blaschko's lines as seen in CDPX2. The lesions resolved within a few months, but the patient had other abnormalities, including shortening of the limbs, epiphyseal stippling, and forearm asymmetry; he also had problems with respiration and feeding in the first 4 years after birth. Kyphoscoliosis with dysplastic vertebral bodies progressed rapidly and required posterior spinal fusion surgery at 6 years old. These findings provide insights into the pathophysiology of CDPX2 and the mechanism of asymmetric lesion formation during development.