Results 131 to 140 of about 737 (185)

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Nature Genetics, 2000
Landouzy-Dejerine muscular dystrophy is a rare hereditary disease with prevalence of 0.9 to 1.4 in 100,000. Clinically the disease is characterized by weakness and atrophy of the facial and shoulder girdle muscles. It is caused by partial deletion of the 3.3-kb subtelomeric D4Z4 repeat on chromosome 4 (locus 4q35). This paper presents a critical review
Lamartine, J., Essenfelder G, Munhoz, Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaître, G., Hand, C., S. J., Hayflick, Zonana, J., Antonarakis, S., Radhakrishna, U., D. P., Kelsell, Christianson, A. L., Pitaval, A., Kaloustian V, Der, Fraser, C., Blanchet-Bardon, C., G. A., Rouleau, Waksman, G.   +19 more
openaire   +6 more sources

Hidrotic Ectodermal Dysplasia With Diffuse Eccrine Poromatosis

Archives of Dermatology, 1977
• Eccrine poromatosis (EP) of remarkable severity has been observed in a patient with hidrotic ectodermal dysplasia (HED), a member of the kindred originally described by Clouston. Neither theEPnor its association withHEDhas been previously reported. ( Arch Dermatol 113:472-476, 1977)
R D, Wilkinson, P, Schopflocher, M, Rozenfeld   +2 more
exaly   +5 more sources

Family with autosomal dominant hidrotic ectodermal dysplasia: A previously unrecognised syndrome?

American Journal of Medical Genetics, 1996
We describe a three-generation family with an autosomal dominant hidrotic ectodermal dysplasia consisting mainly of tricho- and onychodysplasia. One of the patients had supraventricular tachycardia, another had palpitations, and two others had sinus brachycardia.
A L, Christianson, S, Fourie
openaire   +4 more sources

Hidrotic Ectodermal Dysplasia in a Black Mother and Daughter

Archives of Dermatology, 1976
Hidrotic ectodermal dysplasia is a rare genodermatosis with clinical hallmarks of alopecia, nail dystrophy, and palmoplantar hyperkeratosis. This report calls attention to the first reported cases, to our knowledge, of hidrotic ectodermal dysplasia in a black mother and daughter.
openaire   +3 more sources

Premature Cataracts in a Family With Hidrotic Ectodermal Dysplasia

Archives of Dermatology, 1980
• In a family with hidrotic ectodermal dysplasia affecting five members in three generations, bilateral premature cataracts have developed in four of the five affected individuals. To our knowledge, this represents the first report of a family in which bilateral premature cataracts appear to be inherited with hidrotic ectodermal dysplasia.
openaire   +3 more sources

Hidrotic Ectodermal Dysplasia

Archives of Dermatology, 1977
openaire   +3 more sources

Hidrotic Ectodermal Dysplasia

Dermatology, 1979
Description of a patient presenting an hidrotic ectodermal dysplasia. Clinical signs were hypotrichosis, dystrophic nails, palmoplantar keratoderma, absence of teeth and hyperhidrosis.
G E, Pierard, D, Van Neste, B, Letot
openaire   +2 more sources

Hidrotic ectodermal dysplasia with corneal involvement

Journal of American Association for Pediatric Ophthalmology and Strabismus, 1999
Persons with ectodermal dysplasias classically have defects in hair, teeth, nails, and sweat glands. Other tissues derived from ectoderm may also be involved. Ocular involvement in ectodermal dysplasias primarily occurs in anhidrotic forms.We describe a father and son with hidrotic ectodermal dysplasia.Both patients had recurrent corneal epithelial ...
J P, Donahue, C J, Shea, M J, Taravella
openaire   +2 more sources

A distinct type of hidrotic ectodermal dysplasia

American Journal of Medical Genetics, 1991
AbstractFour individuals from 2 generations of a family had a hidrotic type of ectodermal dysplasia (ED). Males and females were similarly affected. They had trichodysplasia, with absent eyebrows and eyelashes; normal teeth, on‐ychodysplasia; normal sweating; mild retrognathia; abnormal dermatoglyphics; and mental retardation.
F, Halal, N, Setton, N S, Wang
openaire   +2 more sources