[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].

Autor:	Callea M; Unit of Dentistry, Bambino Gesù Children's Hospital, (IRCCS), Rome, Italy. mcallea@gmail.com., Cammarata-Scalisi F; Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela., Willoughby CE; University of Liverpool, Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, Liverpool, United Kingdom., Giglio SR; Medical Genetics Unit, University of Florence, Department of Biomedical Experimental and Clinical Sciences 'Mario Serio', Florence, Italy.; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy., Sani I; Medical Genetics Unit, University of Florence, Department of Biomedical Experimental and Clinical Sciences 'Mario Serio', Florence, Italy., Bargiacchi S; Medical Genetics Unit, University of Florence, Department of Biomedical Experimental and Clinical Sciences 'Mario Serio', Florence, Italy., Traficante G; Medical Genetics Unit, University of Florence, Department of Biomedical Experimental and Clinical Sciences 'Mario Serio', Florence, Italy., Bellacchio E; Bambino Gesù Children's Hospital - IRCCS, Research Laboratory, Rome, Italy., Tadini G; Pediatric Dermatology Unit and Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Yavuz I; Department of Pediatric Dentistry, Dicle University, Faculty of Dentistry, Diyarbakir, Turkey., Galeotti A; Unit of Dentistry, Bambino Gesù Children's Hospital, (IRCCS), Rome, Italy., Clarich G; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
Jazyk:	Spanish; Castilian
Zdroj:	Archivos argentinos de pediatria [Arch Argent Pediatr] 2017 Feb 01; Vol. 115 (1), pp. e34-e38.
DOI:	10.5546/aap.2017.e34
Abstrakt:	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. (Sociedad Argentina de Pediatría.)
Databáze:	MEDLINE
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