@article {10465,
	title = {[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].},
	journal = {Arch Argent Pediatr},
	volume = {115},
	year = {2017},
	month = {2017 02 01},
	pages = {e34-e38},
	abstract = {<p>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.</p>},
	keywords = {Child, Preschool, Ectodermal Dysplasia 1, Anhidrotic, Edar Receptor, Humans, Male, Mutation, Pedigree},
	issn = {1668-3501},
	doi = {10.5546/aap.2017.e34},
	author = {Callea, Michele and Cammarata-Scalisi, Francisco and Willoughby, Colin E and Giglio, Sabrina R and Sani, Ilaria and Bargiacchi, Sara and Traficante, Giovanna and Bellacchio, Emanuele and Tadini, Gianluca and Yavuz, Izzet and Galeotti, Angela and Clarich, Gabriella}
}
@article {1874,
	title = {Infantile bilateral glaucoma in a child with ectodermal dysplasia.},
	journal = {Ophthalmic Genet},
	volume = {34},
	year = {2013},
	month = {2013 Mar-Jun},
	pages = {58-60},
	abstract = {<p>Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.</p>},
	keywords = {Antihypertensive Agents, Child, Ectodermal Dysplasia, Ectodysplasins, Humans, Hydrophthalmos, Intraocular Pressure, Male, Mutation, Polymorphism, Single Nucleotide, Tonometry, Ocular},
	issn = {1744-5094},
	doi = {10.3109/13816810.2012.666707},
	author = {Callea, Michele and Vinciguerra, Agatino and Willoughby, Colin E and Deroma, Laura and Clarich, Gabriella}
}
