Congenital Anhidrotic Ectodermal Dysplasia

Herediatary anhidrotic ectodermal dysplasia. Studies in a Nigerian famil.

“…Though the absence of mucous glands in the respiratory tract predisposes these children to respiratory infections (Clouston, 1939;De Jager, 1965), with the advent of antibiotics and chemotherapeutic agents many now survive such infections (Metson and Williams, 1952). The low IgG levels found in our 2 patients may also predispose to recurrent infections but hypo-y-globulinaemia is not a constant feature of HAED (Capitanio et al, 1968). Survival of children with HAED therefore is largely dependent on avoidance of exposure of the children to hot environments.…”

“…The defective sweating in this syndrome prevents adequate thermal regulation and predisposes to hyperpyrexia. Febrile seizures, brain damage, and death in early life may result from exposures to hot environments (Drago and Ehrenreich, 1961;Mills, 1968;Capitanio et al, 1968). Survival of children with the syndrome therefore appears unlikely in a tropical environment, though the well-documented occurrence of the syndrome in some tropical areas contradicts this inference.…”

Radiological Case of the Month

“…The diagnosis of anhidrotic ectodermal dysplasia was made on this child by 1 year of age based on the typical findings2 of hypotrichosis, a peculiar facial appearance, recurrent febrile episodes, absence of sweat, and failure of tooth eruption. Two forms of ectodermal dysplasia have been described, hidrotic and anhidrotic, based on the presence or absence of exocrine sweat glands.…”

Lack of airway submucosal glands impairs respiratory host defenses

“…Mutations in each of the genes in this pathway have been reported in humans who develop the disease hypohidrotic ectodermal dysplasia (HED) ( Pääkkönen et al, 2001 ; Kere et al, 1996 ; Cluzeau et al, 2011 ; Schneider et al, 2001 ). HED defects include loss or reduction in glands, hair, and teeth ( Dietz et al, 2013 ; Clarke et al, 1987 ; Capitanio et al, 1968 ; Reed et al, 1970 ). There are also variable reports of recurrent respiratory tract infections, asthma-like symptoms, and otitis media ( Dietz et al, 2013 ; Clarke et al, 1987 ; Reed et al, 1970 ; Callea et al, 2013 ; Beahrs et al, 1971 ).…”