hypohidrotic ectodermal dysplasia


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an·hi·drot·ic ec·to·der·mal dys·pla·si·a

[MIM*305100]
a disorder characterized by absent or defective sweat glands, saddle-shaped nose, hyperpigmentation around the eyes, malformed or missing teeth, sparse hair, dysplastic nails, smooth finely wrinkled skin, syndactyly, absent mammary gland tissue, and occasionally mental retardation; X-linked recessive inheritance, caused by mutation in the ED1 gene on chromosome Xq. There is also an autosomal dominant form [MIM*129490] and an autosomal recessive form [MIM*224900].
An X-linked [MIM 305100] ectodermal dysplasia with anhidrosis, heat intolerance, and hypoplasia of sebaceous and sweat glands, resulting in dry, smooth and glossy skin; CSTS is accompanied by gonadal hypoplasia, ageusia, anosmia, URIs, absent nipples, partial anodontia or peg teeth, hypotrichosis, saddle nose, dysphagia, physical and mental retardation, feminine appearance and cleft palate; almost all patients are male
References in periodicals archive ?
Simultaneous functional and fixed appliance therapy for growth modification and dental alignment prior to prosthetic habilitation in hypohidrotic ectodermal dysplasia: a clinical report.
Koczorowski, "Molecular basis of hypohidrotic ectodermal dysplasia: an update," Journal of Applied Genetics, vol.
Smahi et al., "X-linked and autosomal recessive hypohidrotic ectodermal dysplasia: genotypic-dental phenotypic findings," Clinical Genetics, vol.
Hypohidrotic ectodermal dysplasia: a case report and literature review.
Anomalies of tooth formation in hypohidrotic ectodermal dysplasia. Int J Paediatr Dent 2007a; 17: 10-8.
Whole saliva in X-linked hypohidrotic ectodermal dysplasia. Int J Paediatr Dent 2007b; 17: 155-62.
Atasu, "Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases," Journal of Clinical Pediatric Dentistry, vol.
Prosthetic rehabilitation of an adolescent with hypohidrotic ectodermal dysplasia with partial anodontia: Case report.
Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia. A clinical case.
Hypohidrotic ectodermal dysplasia manifests as a triad of defects, partial or complete absence of sweat glands, anomalous dentition and hypotrichosis.
[3.] Clarke A., Burn J.: Sweat testing to identify female carriers of X-linked hypohidrotic ectodermal dysplasia. J.
Hypohidrotic ectodermal dysplasia is the most common with an incidence of one in 17000 people worldwide (4).