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

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

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 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.[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.

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.[4][5]

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.[6] In other cases, teeth can be crowned. Orthodontic treatment also
may be necessary. Because dental treatment is complex, a multi-disciplinary approach is best.[7]

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. 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.[8]
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.[9]

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.

Diagnosis

In terms of the clinical evaluation, clinical features are the classification method[10]

Treatment

Management for this condition is symptom specific[11]

Society and culture

Notable cases
Michael Berryman, American actor with hypohidrotic ectodermal dysplasia
 Levi Hawken, New Zealand skateboarder and artist who became well known in 2011 in New
Zealand for the "Nek minnit" viral video on YouTube

See also

List of cutaneous conditions

List of cutaneous conditions caused by mutations in keratins

References

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 (https://doi.org/10.1002%2F
ajmg.1320530207) . PMID 7856640 (https://pubmed.ncbi.nlm.nih.gov/7856640) .

3. U.S. National Library of Medicine. "Ectodermal dysplasia" (https://www.nlm.nih.gov/medlineplus/ency/art

icle/001469.htm) . MedlinePlus Medical Encyclopedia. Retrieved 2 January 2013.

4. Singh, P.; Warnakulasuriya, S. Aplasia of submandibular salivary glands associated with ectodermal
dysplasia. J Oral Pathol Med. 2004 Nov;33(10):634-6.

5. 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.

6. Borzabadi-Farahani; A (December 2012). "Orthodontic considerations in restorative management of

hypodontia patients with endosseous implants". Journal of Oral Implantology. 38 (6): 779–791.
doi:10.1563/AAID-JOI-D-11-00022 (https://doi.org/10.1563%2FAAID-JOI-D-11-00022) . PMID 21728818
(https://pubmed.ncbi.nlm.nih.gov/21728818) .

7. Shahrokhi Rad A, Siadat H, Monzavi A, Mangoli A (May–June 2007). "Full Mouth Rehabilitation of a
Hypohidrotic Ectodermal Dysplasia Patient with Dental Implants: A Clinical Report". J. Prosthodont.
Genet. 16 (3): 209–213. doi:10.1111/j.1532-849X.2006.00173.x (https://doi.org/10.1111%2Fj.1532-849X.
2006.00173.x) . PMID 17581183 (https://pubmed.ncbi.nlm.nih.gov/17581183) .

8. 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 (https://doi.org/10.1002%2Fajmg.1320200123) . PMID 2982262 (h
ttps://pubmed.ncbi.nlm.nih.gov/2982262) .

9. "Ectodermal Dysplasia: eMedicine Dermatology" (http://emedicine.medscape.com/article/1110595-ove

rview) . 29 May 2019.
10. "Orphanet: Search a disease" (https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_i
d=11399) . www.orpha.net. Retrieved 23 February 2022.

11. "Ectodermal Dysplasias" (https://rarediseases.org/rare-diseases/ectodermal-dysplasias/) . NORD

(National Organization for Rare Disorders). Retrieved 23 February 2022.

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