Acromegaloid hypertrichosis syndrome
= = Acromegaloid Hypertrichosis Syndrome ==
Acromegaloid Hypertrichosis Syndrome (AHS) is a rare genetic disorder characterized by excessive hair growth (hypertrichosis) and features resembling acromegaly, such as enlarged facial features. This condition is distinct from acromegaly, which is caused by excess growth hormone, as AHS is not associated with hormonal abnormalities.
Signs and Symptoms[edit | edit source]
Individuals with Acromegaloid Hypertrichosis Syndrome typically present with the following features:
- Hypertrichosis: Excessive hair growth, particularly on the face and body.
- Facial Features: Coarse facial features that may resemble those seen in acromegaly, including a prominent forehead, enlarged nose, and thickened lips.
- Other Features: Some individuals may also exhibit dental abnormalities, such as widely spaced teeth, and skin changes.
Genetics[edit | edit source]
The genetic basis of Acromegaloid Hypertrichosis Syndrome is not fully understood. It is believed to be inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, the specific gene or genes involved have not been conclusively identified.
Diagnosis[edit | edit source]
Diagnosis of AHS is primarily clinical, based on the characteristic physical features. Genetic testing may be used to rule out other conditions with similar presentations. Differential diagnosis includes distinguishing AHS from acromegaly and other forms of hypertrichosis.
Management[edit | edit source]
There is no cure for Acromegaloid Hypertrichosis Syndrome, and treatment is symptomatic. Management strategies may include:
- Cosmetic Treatments: Such as laser hair removal or electrolysis to manage excessive hair growth.
- Dental Care: Regular dental check-ups and orthodontic treatment if necessary.
- Psychological Support: Counseling or support groups to help individuals cope with the social and psychological impacts of the condition.
Prognosis[edit | edit source]
The prognosis for individuals with Acromegaloid Hypertrichosis Syndrome varies. While the condition is not life-threatening, it can have significant psychosocial impacts due to its visible nature. With appropriate management, individuals can lead normal lives.
Research[edit | edit source]
Ongoing research aims to better understand the genetic causes of Acromegaloid Hypertrichosis Syndrome and to develop more effective treatments. Advances in genetic testing and molecular biology may provide further insights into this rare condition.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Acromegaloid hypertrichosis syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
