Ectodermal dysplasia

Classification according to ICD-10
Q82.4	Ectodermal dysplasia (anhidrotic)
Q82.8	Other specified congenital skin malformations
ICD-10 online (WHO version 2019)

Tooth malformations in hypohidrotic ectodermal dysplasia (= Christ-Siemens-Touraine syndrome)

The ectodermal dysplasia (ED) is a heterogeneous group of inherited defects that malformations ( dysplasia ) of those structures cause that from the outer cotyledon ( ectoderm proceed), so, for example, hair , nails , teeth and skin , including sweat glands .

Two groups of ectodermal dysplasia can be distinguished. The first group consists of patients with disorders of at least two different ectodermal structures. In the second group only one of the disorders listed above is found, but in connection with another ectodermal disorder such as the ears , lips or soles of the feet .

Ectodermal dysplasia is hereditary, all inheritance patterns occur: autosomal - dominant and - recessive as well as X-linked dominant and recessive. The frequency of the disease is given as around 7 in 10,000 newborns. More than 150 different syndromes have been identified so far.

to form

Numerous forms are now differentiated based on the underlying genetic changes.

Anhidrotic form

The most common form is anhidrotic ectodermal dysplasia (synonyms: dysplasia, anhidrotic ectodermal; English Hypohidrotic ectodermal dysplasia).

Depending on the inheritance, a distinction can be made:

• x-linked form
  • Dysplasia, ectodermal hypohidrotic, X-linked , Christ-Siemens-Touraine syndrome . This disorder is mostly due to mutations in the ectodysplasin-1 gene ( ED1 ). Because the ED1 gene is located on the X chromosome, boys are more affected than girls. The clinical diagnosis can be confirmed with the help of molecular genetic methods . If necessary, other family members are examined for the genetic defect.
• autosomal dominant form
  • Ectodermal Dysplasia Type 10a Hypohidrotic Hair Nail Type; ECTD10A, change in the EDAR gene at location 2q12.3
  • Ectodermal Dysplasia Type 11a Hypohidrotic Hair Tooth Type; ECTD11A, change in the EDARADD gene at location 1q42-q43
• autosomal recessive form
  • Dysplasia, ectodermal hypohidrotic, autosomal recessive

Hidrotic shape

Synonyms name Tajaro-Pinheiro syndrome

• Dysplasia, ectodermal hidrotic (synonyms: hidrotic ectodermal dysplasia; Clouston syndrome ), named after HR Clouston .
• Dysplasia, ectodermal hidrotic, Christianson-Fourie type
• Dysplasia, ectodermal hidrotic, type Halal (synonym: Halal-Setton-Wang syndrome)

Syndromes with ectodermal dysplasia

• ANOTHER syndrome , acronym for alopecia, nail dystrophy , ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelids (freckles), enteropathy and respiratory tract infections (synonym: dysplasia, ectodermal hypohidrotic - hypothyroidism - ciliary dyskinesia)
• AREDYLD syndrome , acronym for Acral Renal Ectodermal Dysplasia - Lipatrophic Diabetes (Acrorenal Anomalies with Ectodermal Dysplasia and Diabetes)
• Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema (synonym: OLEDAID syndrome , acronym for osteopetrosis-lymphedema-ectodermal dysplasia anhidrotic with immunodeficiency)
• Basan's syndrome (dysplasia, ectodermal - missing dermatoglyphs ), outdated term for Baird's syndrome
• CHIME syndrome , acronym for coloboma, heart defect, ichthyosiform dermatitis, mental retardation and epilepsy or ear defect, (synonyms: Zunich-Kaye syndrome; dysplasia, neuroectodermal, type CHIME; carbohydrate-deficient glycoprotein syndrome due to PIGL deficiency; coloboma syndrome Heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies; Neuroectodermal syndrome type Zunich; PIGL-CDG)
• Dysplasia, ectodermal - blindness
• Dysplasia, ectodermal - sensorineural hearing loss
• Dysplasia, ectodermal - mental retardation - malformations of the central nervous system
• Dysplasia, ectodermal - natal teeth, Turnpenny type
• Dysplasia, ectodermal facial (synonyms: FFDD type III; FFDD3; focal facial dermal dysplasia 3 type Setleis; Setleis syndrome )
• Dysplasia, ectodermal odonto-micronychiale
• Dysplasia, ectodermal, type Berlin (synonym: leucomelanodermia - mental retardation - hypotrichosis)
• Dysplasia, ectodermal, pure hair-nail type (synonym: HNED, acronym for hair-nail-ectodermal dysplasia)
• Dysplasia, ectodermal, tricho-odonto-onychal type
• Dysplasia, cranioectodermal (synonyms: IBD ; Sensenbrenner syndrome)
• Dysplasia, odonto-onycho-hypohidrotic - scalp defects (synonyms: dysplasia, ectodermal - adrenal cysts ; Tuffli-Laxova syndrome )
• Dysplasia, pilo-dental - refraction anomalies (synonym: dysplasia, ectodermal euhidrotic)
• EEC syndrome , acronym for Ectrodactyly - ectodermal dysplasia - cleft lip / palate, (Ectrodactyly - ectodermal dysplasia - cleft lip and palate)
• EEM syndrome , acronym for dysplasia, ectodermal - ectrodactyly - macular dystrophy
• Epidermolysis bullosa simplex due to plakophilin deficiency (synonyms: McGrath syndrome; ectodermal dysplasia-skin fragility syndrome)
• Hypohidrotic ectodermal dysplasia with immunodeficiency (synonyms: anhidrotic ectodermal dysplasia with immunodeficiency; EDA-ID; HED-ID)
  • Ectodermal dysplasia, hypohidrotic, with immune deficiency , IKBKG-Gen, Xq28
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency , autosomal dominant; NFKBIA gene, 14q13.2
• Hypotrichosis with juvenile macular dystrophy
• Contractures - ectodermal dysplasia - cleft lip and palate (synonym: Ladda-Zonana-Ramer syndrome )
• Limb Mammary Syndrome
• Cleft lip and palate - ectodermal dysplasia
  • Zlotogora-Ogur syndrome (synonyms: CLPED1; cleft lip and palate - syndactyly - pili torti; cleft lip and palate - ectodermal dysplasia syndrome; syndactyly - ectodermal dysplasia - cleft lip and palate; Zlotogora -Zilberman-Tenenbaum Syndrome)
  • Dysplasia, ectodermal, Margarita Island type , obsolete for Zlotogora-Ogur syndrome
  • Rosselli-Gulienetti syndrome
• Oligodontic cancer predisposition syndrome (ectodermal dysplasia cancer predisposition syndrome, autosomal dominant)
• Rapp-Hodgkin syndrome (synonym: dysplasia, anhidrotic ectodermal, with cleft lip) out of date for Ankyloblepharon - ectodermal defects - cleft lip and palate (synonyms: AEC syndrome; Hay-Wells syndrome )
• Schöpf-Schulz-Passarge syndrome (synonyms: eccrine tumors - ectodermal dysplasia; palmoplantar keratosis - cystic eyelids - hypodontia - hypotrichosis; SSPS)
• Thinning hair - short stature - skin changes (dysplasia, ectodermal)
• Stoll-Alembic-Finck syndrome (synonym: arthrogryposis with ectodermal dysplasia and other anomalies)
• Tricho-oculo-dermo-vertebral syndrome (synonyms: dysplasia, ectodermal, with cataract and kyphoscoliosis; Alves-dos-Santos-Castello syndrome )
• Tooth-hair-nail-finger-Palma syndrome (synonyms: dysplasia, ectodermal, Mendoza-Valiente type; Odonto-tricho-ungual-digito-palmares ( OTUDP) syndrome )
• Cerebellar ataxia - ectodermal dysplasia

therapy

Ectodermal dysplasia is considered incurable and can only be treated symptomatically. Researchers are still looking for healing methods. In April 2018, the New England Journal of Medicine reported on a medical attempt at healing that led to the world's first successful healing in the context of an experimental prenatal therapy of the anhidrotic form. In the middle of pregnancy, the protein ectodysplasin A1 , which is missing in the affected fetus , was injected into the amniotic fluid . The protein was then swallowed by the unborn children along with the amniotic fluid.

In order to be able to be absorbed into the bloodstream after swallowing from the intestines of the fetuses and thus to reach the site of action, the protein was combined with an Fc component of human antibodies as a transport aid. There is naturally a special uptake mechanism for this Fc component in order to smuggle antibodies that serve the immune defense from breast milk into the infant's blood. Due to the connection with the Fc component, the missing ectodysplasin A1 could be introduced into the bloodstream of the fetuses via this natural absorption mechanism.

All three children developed sufficient sweat glands and a few tooth systems in the course of the therapy attempt. The twins, who were two years old at the time of publication, developed as many sweat glands as healthy children. In view of the successful healing attempt, further studies are being planned.

See also

• Keratoderma
• Marshall Syndrome
• Tricho-dento-osseous syndrome

literature

• JE Van Sickels, TP Raybould, EP Hicks: Interdisciplinary management of patients with ectodermal dysplasia. In: The Journal of oral implantology. Volume 36, Number 3, 2010, pp. 239-245, ISSN  0160-6972 . doi: 10.1563 / AAID-JOI-D-09-00043R1 . PMID 20553179 . (Review).
• F. Clauss, MC Manière et al. a .: Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. In: Journal of Dental Research . Volume 87, Number 12, December 2008, pp. 1089-1099, ISSN  1544-0591 . PMID 19029074 . (Review).
• C. Drögemüller, O. Distl, T. Leeb: X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle. In: Genetics, selection, evolution: GSE. Volume 35 Suppl 1, 2003, pp. S137-S145, ISSN  0999-193X . doi: 10.1051 / gse: 2003022 . PMID 12927086 . PMC 3231755 (free full text) (review).

Web links

• Molecular Genetics - Ectodermal Dysplasia . University of Regensburg
• Ectodermal Dysplasia (English)

Individual evidence

1. ↑ dysplasia, anhidrotic ectodermal. In: Orphanet (Rare Disease Database).
2. ↑ Dysplasia, ectodermal hypohidrotic, X-linked. In: Orphanet (Rare Disease Database).
3. ^ ML Mikkola: Molecular aspects of hypohidrotic ectodermal dysplasia. In: American journal of medical genetics. Part A. Volume 149A, Number 9, September 2009, pp. 2031-2036, ISSN  1552-4833 . doi: 10.1002 / ajmg.a.32855 . PMID 19681132 . (Review).
4. ^ Ectodermal dysplasia 1, hypohidrotic, X-linked.  In: Online Mendelian Inheritance in Man . (English)
5. ↑ dysplasia, ectodermal hypohidrotic, autosomal dominant. In: Orphanet (Rare Disease Database).
6. ^ Ectodermal dysplasia.  In: Online Mendelian Inheritance in Man . (English)
7. ^ Ectodermal dysplasia.  In: Online Mendelian Inheritance in Man . (English)
8. ↑ Dysplasia, ectodermal hypohidrotic, autosomal recessive. In: Orphanet (Rare Disease Database).
9. ^ R. Witkowski, O. Prokop, E. Ullrich: T. In: Lexicon of Syndromes and Malformations . 1995, ISBN 978-3-642-97629-2 , Online ISBN 978-3-642-97628-5 doi: 10.1007 / 978-3-642-97628-5_24
10. ↑ dysplasia, ectodermal hidrotic. In: Orphanet (Rare Disease Database).
11. ↑ Z. Kibar: The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. In: Human Molecular Genetics . 5, pp. 543-547, doi: 10.1093 / hmg / 5.4.543 .
12. ↑ Dysplasia, ectodermal hidrotic, Christianson-Fourie type. In: Orphanet (Rare Disease Database).
13. ↑ Dysplasia, ectodermal hidrotic, type Halal. In: Orphanet (Rare Disease Database).
14. ^ ANOTHER syndrome. In: Orphanet (Rare Disease Database).
15. ↑ AREDYLD syndrome. In: Orphanet (Rare Disease Database).
16. ↑ OLEDAID syndrome. In: Orphanet (Rare Disease Database).
17. ↑ Dysplasia, ectodermal - missing dermatoglyphs. In: Orphanet (Rare Disease Database).
18. ^ Baird syndrome. In: Orphanet (Rare Disease Database).
19. ↑ CHIME syndrome. In: Orphanet (Rare Disease Database).
20. ↑ dysplasia, ectodermal - blindness. In: Orphanet (Rare Disease Database).
21. ↑ Dysplasia, ectodermal - sensorineural hearing loss. In: Orphanet (Rare Disease Database).
22. ↑ Dysplasia, ectodermal - mental retardation - malformations of the central nervous system. In: Orphanet (Rare Disease Database).
23. ↑ Dysplasia, ectodermal - natal teeth, Turnpenny type. In: Orphanet (Rare Disease Database).
24. ↑ Dysplasia, ectodermal facial. In: Orphanet (Rare Disease Database).
25. ↑ dysplasia, ectodermal odonto-micronychiale. In: Orphanet (Rare Disease Database).
26. ↑ Dysplasia, ectodermal, Berlin type. In: Orphanet (Rare Disease Database).
27. ↑ Dysplasia, ectodermal, pure hair-nail type. In: Orphanet (Rare Disease Database).
28. ↑ Dysplasia, ectodermal, tricho-odonto-onychal type. In: Orphanet (Rare Disease Database).
29. ↑ Dysplasia, cranio-ectodermal. In: Orphanet (Rare Disease Database).
30. ↑ Dysplasia, odonto-onycho-hypohidrotic - scalp defects. In: Orphanet (Rare Disease Database).
31. ↑ Dysplasia, pilo-dental - refraction anomalies. In: Orphanet (Rare Disease Database).
32. ^ EEC syndrome. In: Orphanet (Rare Disease Database).
33. ↑ EEM syndrome. In: Orphanet (Rare Disease Database).
34. ↑ Epidermolysis bullosa simplex due to plakophilin deficiency. In: Orphanet (Rare Disease Database).
35. ↑ Hypohidrotic ectodermal dysplasia with immunodeficiency. In: Orphanet (Rare Disease Database).
36. ^ Ectodermal dysplasia, hypohidrotic, with immune deficiency.  In: Online Mendelian Inheritance in Man . (English)
37. ↑ Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency.  In: Online Mendelian Inheritance in Man . (English)
38. ↑ Hypotrichosis with juvenile macular dystrophy. In: Orphanet (Rare Disease Database).
39. ↑ Contractures - ectodermal dysplasia - cleft lip and palate. In: Orphanet (Rare Disease Database).
40. ↑ Cleft lip and palate - ectodermal dysplasia. In: Orphanet (Rare Disease Database).
41. ↑ Zlotogora-Ogur syndrome. In: Orphanet (Rare Disease Database).
42. ↑ Dysplasia, ectodermal, Margarita Island type. In: Orphanet (Rare Disease Database).
43. ^ Ectodermal dysplasia. In: Orphanet (Rare Disease Database).
44. ^ Rosselli-Gulienetti syndrome. In: Orphanet (Rare Disease Database).
45. ↑ Oligodontic Cancer Predisposition Syndrome. In: Orphanet (Rare Disease Database).
46. ↑ Dysplasia, anhidrotic ectodermal, with cleft lip. In: Orphanet (Rare Disease Database).
47. ↑ Ankyloblepharon - ectodermal defects - cleft lip and palate. In: Orphanet (Rare Disease Database).
48. ↑ Schöpf-Schulz-Passarge syndrome. In: Orphanet (Rare Disease Database).
49. ↑ Thinning hair - short stature - skin changes. In: Orphanet (Rare Disease Database).
50. ^ Stoll-Alembic-Finck syndrome. In: Orphanet (Rare Disease Database).
51. ↑ Dysplasia, ectodermal, with cataract and kyphoscoliosis. In: Orphanet (Rare Disease Database).
52. ↑ Tooth-hair-nail-finger-Palma syndrome. In: Orphanet (Rare Disease Database).
53. ^ Cerebellar ataxia - ectodermal dysplasia. In: Orphanet (Rare Disease Database).
54. ↑ Press release from the Friedrich-Alexander-Universität Erlangen-Nürnberg : The world's first successful therapy attempts for the hereditary disease ectodermal dysplasia. Three children out of danger thanks to prenatal protein injection. dated April 26, 2018, accessed on April 26, 2018 and press release from the University Hospital Erlangen : The world's first successful therapeutic attempts for the hereditary disease ectodermal dysplasia. dated April 26, 2018, accessed April 26, 2018
55. ↑ Holm Schneider et al .: Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. In: The New England Journal of Medicine , April 26, 2018, 26; 378 (17), pp. 1604-1610, doi: 10.1056 / NEJMoa1714322 , PMID 29694819

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