Hereditary Anhidrotic Ectodermal Dysplasia

Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.

“…5 complained of occipital headache, dizziness, and fatigue. the clinical characteristics of anhidrotic ectodermal dysplasia (Helweg-Larsen and Ludvigsen, 1946;Upshaw and Montgomery, 1949;Marshall, 1958;Butterworth and Strean, 1962) Our intent is to focus on method of inheritance and the occurrence of palate and lip anomalies Hypohidrosis during raised environmental temperature, low sweat volume during pilocarpine stimulation, and lack of sweat glands in skin biopsy places this kindred in the hypohidrotic category. Cockayne (1933) described an X-linked recessive form in families with affected males.…”

“…Helweg-Larsen and Ludvigsen (1946) stated that the anhidrotic variety with dominant inheritance was variably expressed. Upshaw and Montgomery (1949) concluded that the syndrome could be transmitted as a sex-linked recessive or autosomal dominant or recessive trait. Kerr, Wells, and Cooper (1966) felt that reported cases of dominant inheritance were 'recorded without adequate detail or were very atypical'.…”

Hypohydrotic Ectodermal Dysplasia in Black Africans

“…Distinctive attributes of classic X-linked HED include reduced or absent sweating (hypohidrosis), frontal bossing, flat or depressed nasal bridge, hyperpigmented wrinkled skin especially around the eyes, patulous lips, sparse thin scalp and body hair (hypotrichosis), malformed or absent teeth (hypodontia) and bad smelling nasal discharge (ozena) (1,(15)(16)(17). The nails are usually unaffected and normal.…”

Ectodermal Dysplasias Revisited

“…The same kindred was mentioned in 1875 by Charles Darwin. Subsequently, other investigators described clinically similar cases in a large number of families, thus creating the problem of their clinical and etiological delineation (reviews in Weech 1929, Touraine 1932and 1952, Upshaw and Montgomery 1949, Franceschetti 1953, Rosselli and Gulienetti 1961, Greene 1962, Montgomery 1967, Freire-Maia 1971, Bergsma 1973, Settineri 1974, Witkop et al 1975; see also Durham 1960, Rubin 1967, Jablonsky 1969. Cardinal signs, associated signs and general symptoms have been recognized; severe, moderately severe, and mild states have been identified; "incomplete syndromes " and " variants " have been described.…”