Anhidrotic ectodermal dysplasia Q82.4

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

Anhidrotic ectodermal dysplasia; Christian Siemens Syndrome; Christ-Siemens-Touraine Syndrome; congenital anhidrosis; Dysplasia ectodermal congenital; Dysplasia ectodermal sex-linked form; Dysplasia hypohidrotic ectodermal; ectodermal congenital dysplasia; ectodermal dysplasia; gendered form; Guilford Syndrome; HED; hypohidrotic ectodermal dysplasia; hypotrichotica anhidrosis; Jacququet's syndrome; polydysplasia ectodermique

History
This section has been translated automatically.

Darwin, 1875; Christ, 1913; Touraine, 1936; Siemens, 1937

Definition
This section has been translated automatically.

Group of different phenotypically largely identical hereditary clinical pictures with congenital malformations of skin appendages (hair, sweat glands, sebaceous glands), salivary glands, teeth and nasal cartilage, reduced cellular immunity in normal intelligence. Most frequent form of ectodermal dysplasia.

Etiopathogenesis
This section has been translated automatically.

X-linked recessive mutations of the genes XLHED, EDA and ED1, which are mapped on the gene locus Xq12-q13.1. In the meantime, more than 53 mutations of the EDA gene have been described. The EDA gene encodes ectodysplasin-A, a protein from the family of tumor necrosis factor-α ligands, which is believed to play a role in the interaction between epithelium and mesenchyme and especially in developmental control and differentiation of skin appendages. Variants of the syndrome are inherited autosomal dominant and autosomal recessive.

Manifestation
This section has been translated automatically.

From birth. The full manifestation of the disease is usually only seen in the male sex.

Clinical features
This section has been translated automatically.

  • Generalized hypotrichosis: sparse hair on the head, absence of eyebrows and eyelashes, axillary and pubic hair. Hypohidrosis to anhidrosis, consequently heat intolerance. Tendency to eczema due to reduced sebum secretion, ichthyosiform skin condition ( ichthyosis). Heaps of thin, brittle, grooved nails. Anodontia or hypodontia (missing or conical hypoplastic teeth). Flat bridge of the nose, bulging lips, Olympic forehead. Possible eye disorders, neurolabyrinthine disorders, ozaena, hypo- and dysmastia. Mental and other physical development normal.
  • Special type: Associated with follicular and palmoplantar keratoses and centrofacial lentiginosis. Tendency to inflammation of the middle ear and chronic rhinitis and bronchitis. Female conductors show a lack of sweat glands in some areas and occasionally hypoplasia of the nipples and reduction of dental structures. Rarely reduced intelligence, possibly caused by hyperthermia in childhood.

Diagnosis
This section has been translated automatically.

Prenatal diagnosis of hemizygous male fetuses either in the same way (from 10th week of pregnancy by chorionic biopsy) or by detecting the absence of sweat glands in the fetal skin after fetoscopic biopsy. In addition, mostly mild dental anomalies in female conductors, which can also be detected in the sweat test.

Differential diagnosis
This section has been translated automatically.

Therapy
This section has been translated automatically.

  • Symptomatic. It is important to clarify the accompanying symptoms (e.g. eyes). Avoid extreme temperatures and exsiccation measures such as long and hot showers, hot baths, etc. Bland care with greasy external agents.
  • In cases of severe anhidrosis, ointments that are too greasy may be unpleasant. In this case creams like Ungt. emulsif. aq. 2-10% urea-containing creams R102 or ointments (e.g. Basodexan S ointment, Eucerin 5% urea cream) have proved successful. Dental supervision.

Note(s)
This section has been translated automatically.

In a second pregnancy the risk of a male foetus developing anhidrotic ectodermal dysplasia is 50%.

Literature
This section has been translated automatically.

  1. Blume-Peytavi U et al (1994) Anhidrotic ectodermal dysplasia. Dermatologist 45: 378-384
  2. Carrol ED et al (2003) Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch Dis Child 88: 340-341
  3. Clarke A, Burn J (1991) Sweat testing to identify female carriers of X-linked hypohidrotic ectodermal dysplasia. J Med Genet 28: 330-333
  4. Christ J (1913) On congenital ectodermal defects and their relationship to each other; vicariant pigment for hair formation. Archive for Dermatology and Syphilis (Berlin) 116: 685-703
  5. Darwin C (1875) The Variation of Animals and Plants under Domestication. John Murray (London) (2nd ed.): 319
  6. Doffinger R et al (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27: 277-285
  7. Happle R, frog PJ (1985) Manifestation of the lines of Blaschko in women heterzygous for X-linked hypohidrotic ectodermal dysplasia. Clin Genet 27: 468-471
  8. Kobielak K et al (2001) Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia. At J Med Genet 100: 191-197
  9. Örge C et al (1991) Multiple sebaceous gland hyperplasia in X-linked hypohidrotic ectodermal dysplasia. dermatologist 42: 645-647
  10. Siemens HW (1937) Studies on the inheritance of skin diseases XII. Anhidrosis hipotrichotica. Archive for Dermatology and Syphilis (Berlin) 175: 567-577
  11. Touraine A (1936) L'anidrose avec hypotricose et anodontie." (Polydysplasia ectodérmique héréditaire.) La presse médicale (Paris) 44: 145-149
  12. Uner A et al (2001) Anhidrotic ectodermal dysplasia in a child with a fever of unknown origin. J Dermatol 28: 516-517

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 29.10.2020