Results 121 to 130 of about 1,200 (161)

A Case of Hypohidrotic Ectodermal Dysplasia

Journal of Dermatology, 1999
AbstractHypohidrotic ectodermal dysplasia (HED) is a rare, hereditary, congenital disease that affects several ectodermal structures. It is characterised by the following: anhidrosis or hypohidrosis, dental abnormalities, hypotrichosis, and a characteristic facies.
Jong Suk Lee, Sung Yul Lee, Kyu Uang Whang   +2 more
exaly   +3 more sources

Hypohidrotic Ectodermal Dysplasia: A Multidisciplinary Approach

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 ...
Sezen Kose, Tezan Bildik, Guldane Koturoglu   +2 more
exaly   +3 more sources

Hypohidrotic ectodermal dysplasia with hypothyroidism

The Journal of Pediatrics, 1981
Two brothers with hypohidrotic ectodermal dysplasia were found to have urticaria pigmentosa-like skin pigmentation with increased mast cells and melanin depositions in the dermis. Structural ciliary abnormalities of the respiratory tract were seen, and these may contribute to their severe recurrent chest infections.
H F, Pabst, O, Groth, E E, McCoy
openaire   +2 more sources

Hypohidrotic Ectodermal Dysplasia and Intrathoracic Neuroblastoma

Pediatric Dermatology, 2007
Abstract:  We report a 6‐year‐old girl with a subtle form of hypohidrotic ectodermal dysplasia and a phenotype consisting of curly hair, a round face, a stocky build, and obesity, which was associated with intrathoracic neuroblastoma. Although this new association could be a chance occurrence, its description may alert physicians to look for similar ...
Buoni S, Zannolli R, Macucci F, Molinelli M, Viviano M, Cuccia A, Hayek J, VOLTERRANI, LUCA, de Santi MM, MIRACCO, CLELIA, Fois A.   +10 more
openaire   +3 more sources

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

2006
exaly   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Anhidrotic (or Hypohidrotic) Ectodermal Dysplasia

Dermatologica, 2009
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
openaire   +2 more sources

[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
openaire   +1 more source