n
A disease of genetic origin characterized by failure to form ectodermal derivatives. Sweat glands and teeth may be missing (anhidrosis and anodontia, respectively), and there may be scant hair, faulty fingernails, and malformation of the iris.
Ectodermal dysplasia
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ectodermal dysplasia |
n
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Ectodermal dysplasia |
Medical Dictionary:
ectodermal dysplasia |
n.
Abnormal development or growth of tissues and structures that develop from the ectoderm.
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Ectodermal dysplasia |
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This article does not cite any references or sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (June 2007) |
| Ectodermal dysplasia | |
|---|---|
| Classification and external resources | |
| ICD-10 | Q82.4 |
| ICD-9 | 757.31 |
| DiseasesDB | 30597 |
| eMedicine | derm/114 |
| MeSH | D004476 |
Ectodermal dysplasia is not a single disorder, but a group of 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. Worldwide around 7,000 people have been diagnosed with an ectodermal dysplasia condition. Some ED conditions are only present in single family units and derive from very recent mutations. Ectodermal dysplasias can occur in any race but are much more prevalent in caucasians than any other group and especially in fair caucasians.
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, cranial-facial structure, digits and other parts of the body." [1]
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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.
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 [[Sweat|perspire]]. Their sweat glands may function abnormally or may not have developed at all. 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.
Teeth
In the development of tooth buds frequently result in congenitally absent teeth 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. In other cases, teeth can be crowned. Orthodontic treatment also may be necessary. Because dental treatment is complex, a multi-disciplinary approach is best.
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.[3][4]
One well-known person with ectodermal dysplasia is actor Michael Berryman.
See also
References
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ 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:. PMID 7856640.
- ^ FAQs / General Description
- ^ 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:. PMID 2982262.
External links
- Ectodermal Dysplasia Society
- Australian Ectodermal Dysplasia Support Group
- National Foundation for Ectodermal Dysplasias
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