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].
Synonym(s): hypohidrotic ectodermal dysplasia

hypohidrotic ectodermal dysplasia

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

hypohidrotic ectodermal dysplasia (hī´pōhīdrot´ik ektōdur´məl dis-plā´zhə),

n a syndrome consisting of hypodontia, hypotrichosis, hypohidrosis, and other defects related to the development of ectodermal structures.
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References in periodicals archive ?
Anomalies of tooth formation in hypohidrotic ectodermal dysplasia.
Whole saliva in X-linked hypohidrotic ectodermal dysplasia.
Case series: treatment considerations in x-linked hypohidrotic ectodermal dysplasia
Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia.
Oral rehabilitation with implants in a child with hypohidrotic ectodermal dysplasia.
Prosthetic rehabilitation of a 7 year old child with hypohidrotic ectodermal dysplasia
Hypohidrotic Ectodermal Dysplasia, X-Linked Recessive This is the most common type of ectodermal dysplasia; males are severely affected while females are carriers and very mildly affected.
Developmental anomalies of the oral cavity: the relationship between oral health and genetic disorders, part II. (Developmental Anomalies)
Holm Schneider at the University of Erlangen-Nuernberg, Germany, found that in contrast to previous reports of apparently normal sweating in a mixed cohort of male and female hypohidrotic ectodermal dysplasia patients, all 31 XLHED males (representing 25 different EDA mutations/deletions) demonstrated pilocarpine-stimulated sweat volumes (0-11 l) that did not overlap with the range of values obtained in age-matched control subjects (38-93 l).
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) is a rare genetic disorder diagnosed on the basis of fine, sparse hair (hypotrichosis); few and often pointed teeth (hypodontia); diminished or absent sweat function (hypohidrosis); and recurrent respiratory infections in infancy.
Edimer Pharmaceuticals Presents Study Results on Non-Invasive Sweat Gland Analysis as a Biomarker in XLHED Patients
Sweat testing to identify female carriers of X-linked hypohidrotic ectodermal dysplasia.
Vieira KA, Teixeira MS, Guirado CG, Gaviao MB: Prosthodontic treatment of hypohidrotic ectodermal dysplasia with complete anodontia: Case report.
Prosthetic management of Christ-Siemens-Tourine syndrome--a case report
So with the above clinical findings we came to an diagnosis of Hypohidrotic ectodermal dysplasia.
CONCLUSION: In this report we highlighted on the extra oral and intraoral findings of Hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia: a casereport and literature review

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