Ectodermal dysplasia
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]
| Ectodermal dysplasia | |
|---|---|
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| Ectodermal dysplasia. This image shows peg-shaped teeth and sparse hair. | |
| Specialty | Medical genetics  |
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."
Presentation
Sweat glands
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]
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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
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].
Genetics
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:
- Hay–Wells syndrome (Rapp–Hodgkin syndrome) and EEC syndrome are all associated with TP63.[5]
- Hypohidrotic ectodermal dysplasia can be associated with EDA, EDAR and EDARADD.
- Margarita Island ectodermal dysplasia is associated with PVRL1.
- Ectodermal dysplasia with skin fragility is associated with PKP1.
- Clouston's hidrotic ectodermal dysplasia is associated with GJB6.
- Naegeli syndrome/Dermatopathia pigmentosa reticulariss is associated with KRT14.
- Pachyonychia congenita is caused by multiple keratins.
- Focal dermal hypoplasia is associated with PORCN.
- Ellis–van Creveld syndrome is associated with EVC.
- Palmoplantar ectodermal dysplasia refers to several different conditions selectively affecting the hands and feet.
- Cortes Lacassie syndrome is characterized by seizures, abnormalities in nails, hair and teeth, and malformed hands and feet.
Diagnosis
In terms of the clinical evaluation, clinical features are the classification method[6]
Treatment
Management for this condition is symptom specific[7]
Society and culture
Notable cases
- Michael Berryman, American actor with hypohidrotic ectodermal dysplasia
- Melanie Gaydos, American model
- Levi Hawken, New Zealand skateboarder and artist who became well known in 2011 in New Zealand for the "Nek minnit" viral video on YouTube
- Shahzad Ismaily, American musician[8]
- Cory DeVantè Williams known online as CoryxKenshin[9]
- Javante Carter, Internet personality and comedian known professionally as HolyGxd (HolyGod)[10]
See also
- List of cutaneous conditions
- List of cutaneous conditions caused by mutations in keratins
References
- James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- 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.
- U.S. National Library of Medicine. "Ectodermal dysplasia". MedlinePlus Medical Encyclopedia. Retrieved 2 January 2013.
- 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.
- "Ectodermal Dysplasia: eMedicine Dermatology". 29 May 2019.
{{cite journal}}: Cite journal requires|journal=(help) - "Orphanet: Search a disease". orpha.net. Retrieved 23 February 2022.
- "Ectodermal Dysplasias". NORD (National Organization for Rare Disorders). Retrieved 23 February 2022.
- Currin, Grayson Haver (27 June 2023). "How Shahzad Ismaily Became Musicians' Favorite Musician". The New York Times. Retrieved 1 July 2023.
- Ectodermal Dysplasia (We need to talk.) [PLEASE WATCH TO END], retrieved 19 August 2023
- Keohan, Matt (28 December 2018). "Internet Sensation HolyGod Reveals How Being Constantly Bullied Catapulted Him To Fame". BroBible. Retrieved 13 January 2024.
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