Results 201 to 210 of about 3,344 (220)

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.
Henry F. Pabst, O. Groth, E. E. McCoy
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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
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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 ...
Ozbaran B., Bildik T., Kose S., Koturoglu G., Gokce B., Gunaydin A., Altintas I.   +6 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.
P. de Unamuno, V. Herreros, M. Aparicio, Agustín Martín-Pascual   +3 more
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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 ...
Ignacio Pascual-Castroviejo, Ignacio Pascual-Castroviejo, Martino Ruggieri, Martino Ruggieri   +3 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, Michael Baraitser, Farid Ben Chehida, Maher Ben Ghachem, Mohamed Nebil Necib, H. Karoui   +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.
John M. Opitz, Denis Viljoen, Denis Viljoen, James F. Reynolds, Williams S. Winship   +4 more
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Ceramide profile in hypohidrotic ectodermal dysplasia

Clinical and Experimental Dermatology, 2012
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease. The clinical presentation includes lack of sweating ability, and an often widely spread dermatitis resembling atopic dermatitis (AD). In AD, the skin-barrier defect is partly ascribed to the altered lipid profile in the stratum corneum and partly to mutations of the filaggrin genes.
Jungersted, J.M., Jemec, G.B.E., Agner, T., Høgh, J.K., Hellgren, L.I.   +4 more
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Hypohidrotic Ectodermal Dysplasia in Association with Athelia [PDF]

Journal of Genetic Syndromes & Gene Therapy, 2014
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypotrichosis and hypodontia. We present an 11-year-old girl who developed some malformative stigmas at birth such as facial dysmorphysm, abnormally low-placed auricles, hypertelorism, and exophthalmia.
L. Miteva, Ivan Botev, Iveta Dencheva
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Anomalies of tooth formation in hypohidrotic ectodermal dysplasia

International Journal of Paediatric Dentistry, 2006
Objective.  The X‐linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X‐chromosome inactivation.
Lexner, Michala O, Bardow, Allan, Hertz, Jens Michael, Almer, Lis Inge, Kreiborg, Sven   +4 more
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