<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Ectodermal dysplasias are a large group of disorders characterized by developmental dystrophies of one or more ectodermal structures. Hypohidrotic ectodermal dysplasia is a rare genodermatosis associated with abnormal development of sweat glands, teeth, and hair. Its incidence is 1:100.000 newborns. The full expression of X-recessive forms are only seen in males, while female heterozygotes are moderately or very slightly affected. The disease is characterized by sparse hair, oligodontia, and reduced or absent sweeting, light hair, distinctive facial features, palmoplantar keratoderma.</p><p>We report an 11-year-old boy with hypohidrotic ectodermal dysplasia. Despite extensive skin, teeth and hair manifestations, his physical and psychomotor growth and development were normal.</p></abstract>

Ectodermal dysplasias are a large group of disorders characterized by developmental dystrophies of one or more ectodermal structures. Hypohidrotic ectodermal dysplasia is a rare genodermatosis associated with abnormal development of sweat glands, teeth, and hair. Its incidence is 1:100.000 newborns. The full expression of X-recessive forms are only seen in males, while female heterozygotes are moderately or very slightly affected. The disease is characterized by sparse hair, oligodontia, and reduced or absent sweeting, light hair, distinctive facial features, palmoplantar keratoderma.We report an 11-year-old boy with hypohidrotic ectodermal dysplasia. Despite extensive skin, teeth and hair manifestations, his physical and psychomotor growth and development were normal.

Hypohidrotic ectodermal dysplasia - a case report / Hipohidrotska ektodermalna displazija – prikaz slučaja

Pediatric Dermatology Unit, Clinic of Dermatovenereology, Clinical Center of Serbia, Belgrade, Serbia

Faculty of Medicine, University of Belgrade, Republic of Serbia

University Childrens Hospital, Belgrade, Republic of Serbia

Serbian Journal of Dermatology and Venereology

Ectodermal dysplasias are a large group of disorders characterized by developmental dystrophies of one or more ectodermal structures. Hypohidrotic ectodermal...

Hypohidrotic ectodermal dysplasia - a case report / Hipohidrotska ektodermalna displazija – prikaz slučaja

Pubblicato online: 12 feb 2013

Pagine: 109 - 112

DOI: https://doi.org/10.2478/v10249-011-0042-8

Parole chiave
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive, Child, Skin Diseases, Genetic, Signs and Symptoms

This content is open access.

Hypohidrotic ectodermal dysplasia - a case report / Hipohidrotska ektodermalna displazija – prikaz slučaja

Pubblicato online: 12 feb 2013

Pagine: 109 - 112

DOI: https://doi.org/10.2478/v10249-011-0042-8

Parole chiaveEctodermal Dysplasia, Hypohidrotic, Autosomal Recessive, Child, Skin Diseases, Genetic, Signs and Symptoms

This content is open access.

Parole chiave
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive, Child, Skin Diseases, Genetic, Signs and Symptoms