Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother -: art. no. e97
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother -: art. no. e97
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DOI：
10.1542/peds.109.6.e97
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发表时间：
2002-06-01
期刊：
影响因子：
8
通讯作者：
Bodemer, C
中科院分区：
文献类型：
--
作者：
Dupuis-Girod, S;Corradini, N;Bodemer, C
最近报道了一名患有x连锁骨质疏松症、淋巴水肿、无汗性外胚层发育不良和免疫缺陷（OL-EDA-ID）的儿童。我们报告的临床特征第二个男孩与这种新型综合征和他的母亲，谁提出了迹象的色素失禁（IP）。患儿有轻度骨质疏松，无神经感觉并发症，左腿单侧淋巴水肿，特征为无汗性外胚层发育不良，毛发稀疏，面部畸形，牙齿长出延迟，汗腺异常。他在18个月时死于严重免疫缺陷，多重感染由革兰氏阴性（肠炎沙门氏菌）和革兰氏阳性（肺炎链球菌）细菌、非结核分枝杆菌（堪萨斯分枝杆菌）和真菌（卡氏肺囊虫）引起。他30岁的母亲的病史，连同残留的皮肤病变，高度提示IP无神经损害。在这名OL-EDA-ID患者中，我们检测到与前一名患者相同的NF-kappaB必需调节剂停止密码子亚型突变。2例无血缘关系的相同基因型患者出现相同的临床特征，说明OL-EDA-ID是一种真正的临床综合征。先证者及其母亲的临床和生物学描述进一步证实了IP与EDA之间的关系。这两种综合征都是等位基因，与nf - κ b必需调节剂的突变有关，在半合子男性中具有基因型-表型相关性。相反，功能缺失突变和亚形态突变可能导致女性的IP。
A child with X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OL-EDA-ID) was recently reported. We report the clinical features of a second boy with this novel syndrome and his mother, who presented with signs of incontinentia pigmenti (IP). The child had mild osteopetrosis without neurosensory complications, unilateral lymphedema of the left leg, and characteristic features of anhidrotic ectodermal dysplasia with sparse hair, facial dysmorphy, delayed eruption of teeth, and sweat gland abnormalities. He died at 18 months of severe immunodeficiency with multiple infections caused by Gram-negative (Salmonella enteritidis) and Gram-positive (Streptococcus pneumoniae) bacteria, non-tuberculous mycobacteria (Mycobacterium kansasii), and fungi (Pneumocystis carinii). His 30-year-old mother's medical history, together with residual cutaneous lesions, was highly suggestive of IP without neurologic impairment. In this patient with OL-EDA-ID, we detected the same NF-kappaB essential modulator stop codon hypomorphic mutation identified in the previous patient. The occurrence of the same clinical features in 2 unrelated patients with the same genotype demonstrates that OL-EDA-ID is a genuine clinical syndrome. The clinical and biological descriptions of the proband and his mother further corroborate the relationship between IP and EDA. Both syndromes are allelic and are associated with mutations in NF-kappaB essential modulator, with a genotype-phenotype correlation in hemizygous males. In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females.