View source for Medicine:Ectodermal dysplasia

{{short description|Group of genetic conditions affecting the embryonic ectoderm}}
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| caption       = Ectodermal dysplasia. This image shows peg-shaped teeth and sparse hair.
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'''Ectodermal dysplasia''' ('''ED''') is a group of genetic syndromes all deriving from abnormalities of the [[Biology:Ectoderm|ectoderm]]al structures.<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|570}} More than 150 different syndromes have been identified.<ref>{{cite journal |vauthors=Pinheiro M, Freire-Maia N |title=Ectodermal dysplasias: a clinical classification and a causal review |journal=Am. J. Med. Genet. |volume=53 |issue=2 |pages=153–62 |date=November 1994 |pmid=7856640 |doi=10.1002/ajmg.1320530207 }}</ref>

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|date=February 2022}}

== Presentation ==

=== Hair ===
Individuals affected by an ED syndrome frequently have abnormalities of the hair follicles. Scalp and body hair may be thin, sparse, and very light in color, even though beard growth in affected males may be normal. The hair may grow very slowly or sporadically and it may be excessively fragile, curly, or even twisted. Kinky hair is also a possibility.

=== Nails ===
Fingernails and toenails may be thick, abnormally shaped, discolored, ridged, slow-growing, or brittle. The cuticles may be prone to infections.

=== Skin ===
The skin may be lightly pigmented. Skin sustaining injury may grow back permanently hypo-pigmented. In some cases, red or brown pigmentation may be present. Skin can be prone to rashes or infections and can be thick over the palms and soles. Care must be taken to prevent cracking, bleeding, and infection.

=== Sweat glands ===
Individuals affected by certain ED syndromes cannot [[Medicine:Perspiration|perspire]]. Their sweat glands may function abnormally or may not have developed at all because of inactive proteins in the sweat glands. 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.<ref>{{cite encyclopedia| last = U.S. National Library of Medicine| title = Ectodermal dysplasia| encyclopedia = MedlinePlus Medical Encyclopedia| access-date = 2 January 2013| url = https://www.nlm.nih.gov/medlineplus/ency/article/001469.htm}}</ref>

[[File:Dental abnormalities in a 5-year-old girl from north Sweden family who suffered from various symptoms of autosomal dominant hypohidrotic ectodermal dysplasia (HED).jpg|thumb|right|350px|Dental abnormalities in a 5-year-old girl from north Sweden family who had various symptoms of autosomal dominant hypohidrotic ectodermal dysplasia (HED):<br>
a) Intraoral view. Note that the upper incisors have been restored with composite material to disguise their original conical shape.<br>
b) Orthopantomogram showing absence of ten primary and eleven permanent teeth in the jaws of the same individual.
]]

===Salivary glands===

Several studies have examined salivary flow rate in individuals and found parotid and submandibular salivary flow ranging from 5 to 15 times lower than average. This is consistent with the salivary glands being of ectodermal origin, although some findings have suggested that there is also mesodermal input.<ref>Singh, P.; Warnakulasuriya, S. ''Aplasia of submandibular salivary glands associated with ectodermal dysplasia.'' J Oral Pathol Med. 2004 Nov;33(10):634-6.</ref><ref>Nordgarden, H.; Storhaug, K.; Lyngstadaas, S. P.; Jensen, J. L. ''Salivary gland function in persons with ectodermal dysplasias.'' Eur J Oral Sci. 2003 Oct;111(5):371-6.</ref>

=== Teeth ===
The development of tooth buds frequently results in congenitally absent teeth (in many cases a lack of a permanent set) and/or in the growth of teeth that are peg-shaped or pointed. The enamel may also be defective. Cosmetic dental treatment is almost always necessary and children may need dentures as early as two years of age. Multiple denture replacements are often needed as the child grows, and dental implants may be an option in adolescence, once the jaw is fully grown. Nowadays the option of extracting the teeth and substituting them with dental implants is quite common.<ref>{{cite journal |author=Borzabadi-Farahani |last2=A |title=Orthodontic considerations in restorative management of hypodontia patients with endosseous implants. |journal=Journal of Oral Implantology |volume=38|pages=779–791 |date=December 2012 |issue=6 |pmid=21728818 |doi=10.1563/AAID-JOI-D-11-00022|doi-access=free }}</ref> In other cases, teeth can be crowned. Orthodontic treatment also may be necessary. Because dental treatment is complex, a multi-disciplinary approach is best.<ref>{{cite journal |vauthors=Shahrokhi Rad A, Siadat H, Monzavi A, Mangoli A |title= Full Mouth Rehabilitation of a Hypohidrotic Ectodermal Dysplasia Patient with Dental Implants: A Clinical Report.|journal= J. Prosthodont. Genet. |volume=16 |issue=3 |pages=209–213 |date=May–June 2007 |pmid=17581183 |doi=10.1111/j.1532-849X.2006.00173.x}}</ref>

=== Other features ===
People with ED often have certain cranial-facial features which can be distinctive: [[Medicine:Skull bossing|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 .In some types of ED, abnormal development of parts of the eye can result in dryness of the eye, cataracts, and vision defects. Professional eye care can help minimize the effects of ED on vision. Similarly, abnormalities in the development of the ear may cause hearing problems. Respiratory infections can be more common because the normal protective secretions of the mouth and nose are not present. Precautions must be taken to limit infections.<ref>{{cite journal |vauthors=Pinheiro M, Freire-Maia N, Gollop TR |title=Odontoonychodysplasia with alopecia: a new pure ectodermal dysplasia with probable autosomal recessive inheritance |journal=Am. J. Med. Genet. |volume=20 |issue=1 |pages=197–202 |date=January 1985 |pmid=2982262 |doi=10.1002/ajmg.1320200123 }}</ref>{{additional citation needed|date=February 2022}}.

== 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:
* [[Medicine:Hay–Wells syndrome|Hay–Wells syndrome]] ([[Medicine:Rapp–Hodgkin syndrome|Rapp–Hodgkin syndrome]]) and [[Medicine:EEC syndrome|EEC syndrome]] are all associated with ''TP63''.<ref name="urlEctodermal Dysplasia: eMedicine Dermatology">{{cite journal |url=http://emedicine.medscape.com/article/1110595-overview |title=Ectodermal Dysplasia: eMedicine Dermatology |date=29 May 2019 }}</ref>
* [[Medicine:Hypohidrotic ectodermal dysplasia|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''.
* [[Medicine:Clouston's hidrotic ectodermal dysplasia|Clouston's hidrotic ectodermal dysplasia]] is associated with ''GJB6''.
* Naegeli syndrome/[[Medicine:Dermatopathia pigmentosa reticularis|Dermatopathia pigmentosa reticularis]]s is associated with ''KRT14''.
* [[Medicine:Pachyonychia congenita|Pachyonychia congenita]] is caused by multiple keratins.
* [[Medicine:Focal dermal hypoplasia|Focal dermal hypoplasia]] is associated with ''PORCN''.
* [[Medicine:Ellis–van Creveld syndrome|Ellis–van Creveld syndrome]] is associated with ''EVC''.
* Palmoplantar ectodermal dysplasia refers to several different conditions selectively affecting the hands and feet.
* [[Medicine:Cortes Lacassie syndrome|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<ref>{{cite web |title=Orphanet: Search a disease |url=https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11399 |website=orpha.net |access-date=23 February 2022}}</ref>

==Treatment==
Management for this condition is symptom specific<ref>{{cite web |title=Ectodermal Dysplasias |url=https://rarediseases.org/rare-diseases/ectodermal-dysplasias/ |website=NORD (National Organization for Rare Disorders) |access-date=23 February 2022}}</ref>

==Society and culture==
=== Notable cases ===
* Michael Berryman, American actor with [[Medicine:Hypohidrotic ectodermal dysplasia|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 [[Company:YouTube|YouTube]]
* Shahzad Ismaily, American musician<ref>{{cite news |last1=Currin |first1=Grayson Haver |title=How Shahzad Ismaily Became Musicians' Favorite Musician |url=https://www.nytimes.com/2023/06/27/arts/music/shahzad-ismaily.html |access-date=1 July 2023 |work=The New York Times |date=27 June 2023}}</ref>
* Cory DeVantè Williams known online as CoryxKenshin<ref>{{Citation |title=Ectodermal Dysplasia (We need to talk.) [PLEASE WATCH TO END] |url=https://www.youtube.com/watch?v=GsxdZ-3n0GQ |access-date=2023-08-19 |language=en}}</ref>
* Javante Carter, Internet personality and comedian known professionally as HolyGxd (HolyGod)<ref>{{Cite web |last=Keohan |first=Matt |date=2018-12-28 |title=Internet Sensation HolyGod Reveals How Being Constantly Bullied Catapulted Him To Fame |url=https://brobible.com/culture/article/holygod-reveals-bullying-to-fame/ |access-date=2024-01-13 |website=BroBible |language=en-US}}</ref>

== See also ==
* List of cutaneous conditions
* List of cutaneous conditions caused by mutations in keratins

== References ==
{{Reflist}}

== External links ==
{{Medical resources
| DiseasesDB      = 30597
| ICD10           = {{ICD10|Q|82|4|q|80}}
| ICD9            = {{ICD9|757.31}}
| ICDO            =
| OMIM            =
| MedlinePlus     = 001469
| eMedicineSubj   = derm
| eMedicineTopic  = 114
| MeshID          = D004476
| SNOMED CT       = 8654005
}}


[[Category:Genodermatoses]]
[[Category:Ectoderm]]

{{Sourceattribution|Ectodermal dysplasia}}