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Hypohidrotic ectodermal dysplasia with immunodeficiency

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Disease definition

A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.

ORPHA:98813

Classification level: Disorder

Synonym(s):
  • Anhidrotic ectodermal dysplasia with immunodeficiency
  • EDA-ID
  • HED-ID

Prevalence: Unknown

Inheritance: Autosomal dominant, X-linked recessive

Age of onset: Infancy, Neonatal

ICD-10: D82.8

OMIM: 300291 612132

UMLS: C1846006

MeSH: C536181

GARD: 9936

Summary
Epidemiology

Prevalence is not known. The incidence is approximately 1/250,000 live male births for the X-linked form. Fewer than 10 patients with the autosomal-dominant form have been reported.

Clinical description

The clinical picture is variable. Typical signs of HED may be observed, such as sparse hair (atrichosis/ hypotrichosis), abnormal (e.g. conical) or missing teeth (anodontia/ hypodontia), decreased or absent sudation due to a lack of sweat glands (anhidrosis/ hypohidrosis), and typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation) which are associated with immunologic defects such as susceptibility to opportunistic infections, hypogammaglobulinemia, impaired antibody response to polysaccharides or impaired NK-cell activity. Many patients fail to thrive. Ectodermal dysplasia-related symptoms of HED-ID, however, tend to be milder than in patients with other forms of HED. The disease can also be associated with osteopetrosis and lymphedema (hypohidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, lymphedema; see this term).

Etiology

HED-ID is caused by hypomorphic mutations in the coding region of the IKBKG (or NEMO) gene (Xq28) or, less often, mutations in the NFKBIA gene (14q13), both involved in NF-κB activation.

Genetic counseling

Transmission is X-linked recessive in case of IKBKG mutations and autosomal-dominant in case of NFKBIA mutations. Somatic mosaicism seems to occur frequently in HED-ID patients.

Last update: April 2013 - Expert reviewer(s): Pr Holm SCHNEIDER
A summary on this disease is available in Español (2013) Deutsch (2013) Italiano (2013) Nederlands (2013) Polski (2014.pdf)
Detailed information
General public
Article for general public
Svenska (2016) - Socialstyrelsen
Guidelines
Clinical practice guidelines
English (2020) - J Clin Immunol Logo ERN

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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