Hypohidrotic ectodermal dysplasia: Difference between revisions
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[[ | {{SI}} | ||
{{Infobox medical condition | |||
| name = Hypohidrotic ectodermal dysplasia | |||
| image = [[File:X-linked_recessive.svg|200px]] | |||
| caption = X-linked recessive pattern | |||
| synonyms = Anhidrotic ectodermal dysplasia, Christ-Siemens-Touraine syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Hypohidrosis]], [[hypotrichosis]], [[hypodontia]] | |||
| onset = Birth | |||
| duration = Lifelong | |||
| causes = Genetic mutation in the [[EDA (gene)|EDA]], [[EDAR]], or [[EDARADD]] genes | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], clinical evaluation | |||
| differential = Other forms of [[ectodermal dysplasia]] | |||
| treatment = Symptomatic management, dental care, skin care | |||
| medication = | |||
| prognosis = Generally good with management | |||
| frequency = 1 in 17,000 people | |||
| deaths = Rarely life-threatening | |||
}} | |||
[[Hypohidrotic ectodermal dysplasia]] (HED) is a rare genetic disorder that primarily affects the development of the skin, hair, nails, teeth, and sweat glands. It is one of the many types of [[ectodermal dysplasia]]. | [[Hypohidrotic ectodermal dysplasia]] (HED) is a rare genetic disorder that primarily affects the development of the skin, hair, nails, teeth, and sweat glands. It is one of the many types of [[ectodermal dysplasia]]. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
Individuals with HED typically exhibit the following characteristics: | Individuals with HED typically exhibit the following characteristics: | ||
* | * '''Hypohidrosis''': Reduced ability to sweat due to underdeveloped or absent sweat glands, leading to difficulty in regulating body temperature. | ||
* | * '''Hypotrichosis''': Sparse, thin, and light-colored hair on the scalp and body. | ||
* | * '''Dental abnormalities''': Missing teeth (hypodontia) or teeth that are pointed or cone-shaped. | ||
* | * '''Facial features''': Distinctive facial features including a prominent forehead, thin lips, and a flattened bridge of the nose. | ||
* | * '''Skin''': Dry, thin skin that may be prone to eczema or infections. | ||
== Genetics == | == Genetics == | ||
HED is most commonly inherited in an [[X-linked recessive]] pattern, which means the gene responsible for the condition is located on the X chromosome. Males are more frequently affected because they have only one X chromosome. Females with one affected X chromosome are typically carriers and may exhibit milder symptoms. The condition can also be inherited in an [[autosomal recessive]] or [[autosomal dominant]] manner, though these forms are less common. | HED is most commonly inherited in an [[X-linked recessive]] pattern, which means the gene responsible for the condition is located on the X chromosome. Males are more frequently affected because they have only one X chromosome. Females with one affected X chromosome are typically carriers and may exhibit milder symptoms. The condition can also be inherited in an [[autosomal recessive]] or [[autosomal dominant]] manner, though these forms are less common. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of HED is based on clinical evaluation, family history, and genetic testing. The characteristic features of the disorder often lead to a clinical diagnosis, which can be confirmed by identifying mutations in the [[EDA]], [[EDAR]], or [[EDARADD]] genes. | Diagnosis of HED is based on clinical evaluation, family history, and genetic testing. The characteristic features of the disorder often lead to a clinical diagnosis, which can be confirmed by identifying mutations in the [[EDA]], [[EDAR]], or [[EDARADD]] genes. | ||
== Management == | == Management == | ||
There is no cure for HED, but management focuses on alleviating symptoms and improving quality of life. This may include: | There is no cure for HED, but management focuses on alleviating symptoms and improving quality of life. This may include: | ||
* | * '''Temperature regulation''': Measures to prevent overheating, such as air conditioning, cooling vests, and frequent hydration. | ||
* | * '''Dental care''': Use of dentures, dental implants, or other dental prosthetics to address missing or abnormal teeth. | ||
* | * '''Skin care''': Moisturizers and other treatments to manage dry skin and prevent infections. | ||
* | * '''Genetic counseling''': For affected individuals and their families to understand the inheritance pattern and risks for future offspring. | ||
== Epidemiology == | == Epidemiology == | ||
HED is a rare condition, with an estimated prevalence of 1 in 10,000 to 1 in 100,000 live births. It affects individuals of all ethnic backgrounds. | HED is a rare condition, with an estimated prevalence of 1 in 10,000 to 1 in 100,000 live births. It affects individuals of all ethnic backgrounds. | ||
== See Also == | == See Also == | ||
* [[Ectodermal dysplasia]] | * [[Ectodermal dysplasia]] | ||
* [[X-linked recessive inheritance]] | * [[X-linked recessive inheritance]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{Commons category|Hypohidrotic ectodermal dysplasia}} | {{Commons category|Hypohidrotic ectodermal dysplasia}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Revision as of 04:18, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Hypohidrotic ectodermal dysplasia | |
|---|---|
| |
| Synonyms | Anhidrotic ectodermal dysplasia, Christ-Siemens-Touraine syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Hypohidrosis, hypotrichosis, hypodontia |
| Complications | N/A |
| Onset | Birth |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the EDA, EDAR, or EDARADD genes |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other forms of ectodermal dysplasia |
| Prevention | N/A |
| Treatment | Symptomatic management, dental care, skin care |
| Medication | |
| Prognosis | Generally good with management |
| Frequency | 1 in 17,000 people |
| Deaths | Rarely life-threatening |
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that primarily affects the development of the skin, hair, nails, teeth, and sweat glands. It is one of the many types of ectodermal dysplasia.
Signs and Symptoms
Individuals with HED typically exhibit the following characteristics:
- Hypohidrosis: Reduced ability to sweat due to underdeveloped or absent sweat glands, leading to difficulty in regulating body temperature.
- Hypotrichosis: Sparse, thin, and light-colored hair on the scalp and body.
- Dental abnormalities: Missing teeth (hypodontia) or teeth that are pointed or cone-shaped.
- Facial features: Distinctive facial features including a prominent forehead, thin lips, and a flattened bridge of the nose.
- Skin: Dry, thin skin that may be prone to eczema or infections.
Genetics
HED is most commonly inherited in an X-linked recessive pattern, which means the gene responsible for the condition is located on the X chromosome. Males are more frequently affected because they have only one X chromosome. Females with one affected X chromosome are typically carriers and may exhibit milder symptoms. The condition can also be inherited in an autosomal recessive or autosomal dominant manner, though these forms are less common.
Diagnosis
Diagnosis of HED is based on clinical evaluation, family history, and genetic testing. The characteristic features of the disorder often lead to a clinical diagnosis, which can be confirmed by identifying mutations in the EDA, EDAR, or EDARADD genes.
Management
There is no cure for HED, but management focuses on alleviating symptoms and improving quality of life. This may include:
- Temperature regulation: Measures to prevent overheating, such as air conditioning, cooling vests, and frequent hydration.
- Dental care: Use of dentures, dental implants, or other dental prosthetics to address missing or abnormal teeth.
- Skin care: Moisturizers and other treatments to manage dry skin and prevent infections.
- Genetic counseling: For affected individuals and their families to understand the inheritance pattern and risks for future offspring.
Epidemiology
HED is a rare condition, with an estimated prevalence of 1 in 10,000 to 1 in 100,000 live births. It affects individuals of all ethnic backgrounds.
See Also
References
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External Links
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