Results 141 to 150 of about 6,864 (183)

A rare case of X-linked hypohidrotic ectodermal dysplasia with chorioretinal lesions by missense mutation in ectodysplasin A gene from Northeast India

Journal of Ophthalmic Research and Practice
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic condition affecting 1–7 cases in 10,000 live births. It is the most common type of ectodermal dysplasia.
Nilutparna Deori, Madhusmita Mahapatra, Dipankar Das, M. Choudhury   +3 more
semanticscholar   +1 more source

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

A Case of Hypohidrotic Ectodermal Dysplasia

The 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.
J W, Park, J Y, Hwang, S Y, Lee, J S, Lee, M K, Go, K U, Whang   +5 more
openaire   +2 more sources

Rapp‐Hodgkin hypohidrotic ectodermal dysplasia syndrome

Clinical Genetics, 1991
Four members in three generations of a family had Rapp‐Hodgkin hypohidrotic ectodermal dysplasia syndrome with variable involvement of teeth, hair, nails and palate, characteristic facies and mild heat tolerance problems. In addition, the proband had a high sweat sodium, hypogenitalism, hypothelia and marked cicatricial scalp atrophy and scarring ...
I R, Walpole, J, Goldblatt
openaire   +2 more sources

Hypohidrotic Ectodermal Dysplasia

Journal of Ultrasound in Medicine, 2003
Ectodermal dysplasia is the term used to describe a group of rare congenital anomalies characterized by abnormal development of 1 or several ectoderm-derived tissues. At least 154 different types, divided into 11 clinical subgroups, have been recognized.
Waldo, Sepulveda, Rodrigo, Sandoval, Eduardo, Carstens, Jorge, Gutierrez, Patricio, Vasquez   +4 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
openaire   +2 more sources

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
openaire   +1 more source

[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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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
openaire   +2 more sources