Callea Michele, Cammarata-Scalisi Francisco, Willoughby Colin E, Giglio Sabrina R, Sani Ilaria, Bargiacchi Sara, Traficante Giovanna, Bellacchio Emanuele, Tadini Gianluca, Yavuz Izzet, Galeotti Angela, Clarich Gabriella
Unit of Dentistry, Bambino Gesù Children's Hospital, (IRCCS), Rome, Italy.
Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
Arch Argent Pediatr. 2017 Feb 1;115(1):e34-e38. doi: 10.5546/aap.2017.e34.
Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.
少汗型外胚层发育不良（HED）是一种罕见疾病，其特征是外胚层来源的结构发育缺陷，由EDA、EDAR或EDARADD基因突变引起。这三个基因的突变所导致的表型可能表现出相似的临床特征，这可通过共同的信号通路来解释。EDA基因突变导致X连锁HED，这是最常见的形式。EDAR和EDARADD基因突变分别导致常染色体显性和隐性形式的HED。HED最显著的临床发现是牙发育不全、毛发稀少和少汗，这些可导致体温过高发作。我们报告了一名具有常染色体显性遗传模式的HED患儿的临床发现，该患儿的EDAR基因存在杂合突变c.1072C>T（p.Arg358X）。我们还对其他呈现相同突变的病例进行了文献回顾和讨论。
