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X-linked hypertrichosis is a rare genetic disorder characterized by excessive hair growth on various parts of the body. The condition is inherited in an X-linked dominant manner, meaning that it is passed down through the X chromosome and affects both males and females.

Symptoms

The primary symptom of X-linked hypertrichosis is excessive hair growth, which can occur on any part of the body. This hair growth is typically present at birth and continues to increase throughout the individual's life. Other symptoms may include abnormal hair growth patterns, skin abnormalities, and developmental delays.

Causes

X-linked hypertrichosis is caused by mutations in the SOX3 gene, which is located on the X chromosome. This gene is involved in the development of hair follicles, and mutations in this gene can lead to abnormal hair growth.

Diagnosis

Diagnosis of X-linked hypertrichosis is typically made based on the presence of characteristic symptoms, a family history of the condition, and genetic testing to identify mutations in the SOX3 gene.

Treatment

There is currently no cure for X-linked hypertrichosis. Treatment is typically focused on managing symptoms and may include hair removal techniques such as shaving, waxing, or laser hair removal.

See also

• Hypertrichosis
• Genetic disorders
• X-linked dominant inheritance

References

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