Results 201 to 210 of about 3,476 (222)

Hypohidrotic Ectodermal Dysplasia (HED)

2008
The ectodermal dysplasias (EDs) represent a complex and highly diverse group of congenital heritable disorders affecting tissues of ectodermal origin. The main characteristics of the group, which encompasses more than 170 conditions (Irvine 2006, OMIM 2006), consist in developmental abnormalities of two or more ectodermal appendages/ structures ...
RUGGIERI, MARTINO, PASCUAL CASTROVIEJO I.   +1 more
openaire   +2 more sources

Hypohidrotic Ectodermal Dysplasia: A Multidisciplinary Approach

The International Journal of Psychiatry in Medicine, 2012
Hypohidrotic ectodermal dysplasia (HED; Christ-Siemens-Touraine syndrome) is a genetic disorder characterized by sparse hair, oligodontia with peg-shaped teeth, reduced sweating, and defects in a number of other ectodermal organs. A partial or complete absence of eccrine glands can lead to recurrent severe overheating that may cause seizures and ...
Bildik, Tezan, Ozbaran, Burcu, Kose, Sezen, Koturoglu, Guldane, Gokce, Bulent, Gunaydin, Asli, Altintas, Inci   +6 more
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Hypohidrotic ectodermal dysplasia with tibial aplasia

Clinical Dysmorphology, 2002
We report an inbred Tunisian family, in which 19 members had an ectodermal syndrome involving the teeth, hair, nails and skin. Ectrodactyly occurred as an isolated manifestation in one, and with tibial aplasia in two others. None had facial clefts. Dysplastic ears were part of the syndrome.
Ali Al, Kaissi, Maher Ben, Ghachem, Mohamed Nebil, Necib, Farid Ben, Chehida, Hager, Karoui, Michael, Baraitser   +5 more
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A new form of hypohidrotic ectodermal dysplasia

American Journal of Medical Genetics, 1988
AbstractWe report on a 17‐yr‐old young woman with an apparently new tricho‐onycho‐hypohidrotic ectodermal dysplasia. The manifestations include primary interdigital webbing, contractures of fingers and toes, conjunctivitis from narrowing of nasolacrimal ducts, and a small cortical opacity in the lens of the left eye.
Denis L. Viljoen, Williams S. Winship, John M. Opitz, James F. Reynolds   +3 more
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Anhidrotic (or Hypohidrotic) Ectodermal Dysplasia

Dermatology, 1977
A case with anhidrotic ectodermal dysplasia is reported. He is a male belonging to a family which could suggest a recessive X-linked pattern of inheritance. The characteristics which are found in this patient are compared with those described by other authors in the medical bibliography.
A, Martin-Pascual, P, De Unamuno, M, Aparicio, V, Herreros   +3 more
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Hypohidrotic ectodermal dysplasia.

Zhonghua yi xue za zhi = Chinese medical journal; Free China ed, 2000
Hypohidrotic ectodermal dysplasia was first described by Thurnam in 1848. It is a rare, X-linked, recessive disorder characterized by anhidrosis or hypohidrosis, hypotrichosis, dental hypoplasia and characteristic facial features. Herein, we report a typical case of hypohidrotic ectodermal dysplasia. A 20-year-old male presented with the above symptoms
H C, Wang, C C, Chen, W J, Wang, W L, Ho
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[Hypohidrotic ectodermal dysplasias].

Annales de dermatologie et de venereologie, 2003
Ectodermal dysplasias form a heterogeneous group of hereditary diseases associating dysplastic abnormalities of four tissues which derive from the ectoderm. The frequency of these congenital diseases is estimated at 7 out of 100,000 newborns. More than 150 different syndromes have been described.
I, Plottova-Puech, F, Cambazard
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Hypohidrotic ectodermal dysplasia: a case report

Orbit, 2019
Hypohidrotic ectodermal dysplasia is a common variation of ectodermal dysplasia, characterized by hypohidrosis (or anhidrosis), hypotrichosis, hypodontia, and other distinct facial features. Furthermore, ocular tissues of ectodermal origin may also be affected in this disease.
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Hypohidrotic ectodermal dysplasia

The Journal of Pediatrics, 1971
Ian A. Crump, David M. Danks
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Hypohidrotic ectodermal dysplasia: a case report.

Quintessence international (Berlin, Germany : 1985), 2008
Ectodermal dysplasias represent a large and complex group of diseases comprising more than 170 clinical conditions. They are caused by impaired development of the ectodermal appendages and characterized by a primary defect in at least one of the following tissues: nails, hair, sweat glands, or teeth.
Yavuz, Izzet, Kiralp, Suha, Baskan, Zelal   +2 more
openaire   +2 more sources