Ectodermal dysplasia

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Ectodermal dysplasia
Ectodermal dysplasia. This image shows peg-shaped teeth and sparse hair.
SpecialtyMedical genetics Edit this on Wikidata

Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures.[1]: 570  More than 150 different syndromes have been identified.[2]

Despite some of the syndromes having different genetic causes, the symptoms are sometimes very similar. Diagnosis is usually by clinical observation, often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive.

Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body."[citation needed]


Sweat glands[edit]

Individuals affected by certain ED syndromes cannot perspire. Their sweat glands may function normally but they have less sweat glands than normal sweat glands population. Without normal sweat production, the body cannot regulate temperature properly. Therefore, overheating is a common problem, especially during hot weather. Access to cool environments is important.[3]

Dental abnormalities in a 5-year-old girl from north Sweden family who had various symptoms of autosomal dominant hypohidrotic ectodermal dysplasia (HED):
a) Intraoral view. Note that the upper incisors have been restored with composite material to disguise their original conical shape.
b) Orthopantomogram showing absence of ten primary and eleven permanent teeth in the jaws of the same individual.

Mitology: Vampire syndrom,Dracula or disaster in long past due to genetic disorder like oder syndromes.

Other features[edit]

People with ED often have certain cranial-facial features which can be distinctive: frontal bossing is common, longer or more pronounced chins are frequent, broader noses are also very common. Sunken cheeks, wrinkled hyper pigmented periorbital skin, thick everted protuberant lips are also seen in ED cases. [4][additional citation(s) needed].


ED can be classified by inheritance (autosomal dominant, autosomal recessive and X-linked) or by which structures are involved (hair, teeth, nails and/or sweat glands).

There are several different types with distinct genetic causes:


In terms of the clinical evaluation, clinical features are the classification method[6]


Management for this condition is symptom specific[7]

Society and culture[edit]

Notable cases[edit]

See also[edit]


  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ Pinheiro M, Freire-Maia N (November 1994). "Ectodermal dysplasias: a clinical classification and a causal review". Am. J. Med. Genet. 53 (2): 153–62. doi:10.1002/ajmg.1320530207. PMID 7856640.
  3. ^ U.S. National Library of Medicine. "Ectodermal dysplasia". MedlinePlus Medical Encyclopedia. Retrieved 2 January 2013.
  4. ^ Pinheiro M, Freire-Maia N, Gollop TR (January 1985). "Odontoonychodysplasia with alopecia: a new pure ectodermal dysplasia with probable autosomal recessive inheritance". Am. J. Med. Genet. 20 (1): 197–202. doi:10.1002/ajmg.1320200123. PMID 2982262.
  5. ^ "Ectodermal Dysplasia: eMedicine Dermatology". 29 May 2019. {{cite journal}}: Cite journal requires |journal= (help)
  6. ^ "Orphanet: Search a disease". Retrieved 23 February 2022.
  7. ^ "Ectodermal Dysplasias". NORD (National Organization for Rare Disorders). Retrieved 23 February 2022.
  8. ^ Currin, Grayson Haver (27 June 2023). "How Shahzad Ismaily Became Musicians' Favorite Musician". The New York Times. Retrieved 1 July 2023.
  9. ^ Ectodermal Dysplasia (We need to talk.) [PLEASE WATCH TO END], retrieved 19 August 2023
  10. ^ Keohan, Matt (28 December 2018). "Internet Sensation HolyGod Reveals How Being Constantly Bullied Catapulted Him To Fame". BroBible. Retrieved 13 January 2024.

External links[edit]