Hypertrichosis atrophic skin ectropion macrostomia
| Hypertrichosis-atrophic skin-ectropion-macrostomia | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | Dermatology, Genetics |
| Symptoms | Hypertrichosis, Atrophic skin, Ectropion, Macrostomia |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical examination, Genetic testing |
| Differential diagnosis | N/A |
| Prevention | N/A |
| Treatment | Symptomatic treatment |
| Medication | N/A |
| Prognosis | |
| Frequency | |
| Deaths | N/A |
Hypertrichosis-atrophic skin-ectropion-macrostomia is a rare genetic disorder characterized by a combination of hypertrichosis, atrophic skin, ectropion, and macrostomia.
Signs and Symptoms[edit | edit source]
Individuals with this condition typically present with excessive hair growth (hypertrichosis), thinning of the skin (atrophic skin), outward turning of the eyelid (ectropion), and an abnormally large mouth (macrostomia).
Causes[edit | edit source]
The condition is believed to be caused by a genetic mutation, although the specific gene involved has not been definitively identified. It is inherited in an autosomal dominant pattern.
Diagnosis[edit | edit source]
Diagnosis is primarily based on clinical examination and the presence of characteristic features. Genetic testing may be used to confirm the diagnosis and identify the specific mutation.
Treatment[edit | edit source]
There is no cure for hypertrichosis-atrophic skin-ectropion-macrostomia. Treatment is symptomatic and supportive, focusing on managing the individual symptoms. This may include surgical correction of ectropion and macrostomia, as well as dermatological treatments for skin and hair issues.
Prognosis[edit | edit source]
The prognosis for individuals with this condition varies depending on the severity of symptoms and the effectiveness of symptomatic treatments. Regular follow-up with healthcare providers is recommended to manage and monitor the condition.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
- [Link to relevant external resources]
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Contributors: Prab R. Tumpati, MD
