Results 171 to 180 of about 2,841 (212)

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
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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 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
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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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Odontotrichomelic Hypohidrotic Dysplasia A Clinical Reappraisal

Human Heredity, 1972
This paper presents a second clinical appraisal of a dysmorphic syndrome (Odontotrichomelic hypohidrotic dysplasia) presented in two personally examined sib lings and two of their brothers who died in infancy. This syndrome is an ectodermal, dysplasia of the tricho-odonto-onycho-dyshidrotic subgroup, according to Freire-Maia’s classification.
I, Cat, O, Costa, N, Freire-Maia
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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
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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
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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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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.

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