X-linked hypertrichosis

X-linked Hypertrichosis

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Diagram illustrating X-linked dominant inheritance.

X-linked hypertrichosis is a rare genetic condition characterized by excessive hair growth over the body. This condition is inherited in an X-linked dominant pattern, meaning that the gene responsible for the condition is located on the X chromosome, and only one copy of the altered gene is sufficient to cause the disorder in both males and females.

Clinical Features

Individuals with X-linked hypertrichosis exhibit excessive hair growth, which can vary in severity. The hair is typically long and thick, and it can cover large areas of the body, including the face, arms, and back. The condition is present from birth and persists throughout life.

Genetic Basis

X-linked hypertrichosis is caused by mutations in a gene located on the X chromosome. The specific gene involved has not been definitively identified, but it is believed to affect the regulation of hair growth. Because the condition is X-linked dominant, both males and females can be affected, although the pattern of inheritance can lead to more severe manifestations in males.

Inheritance Pattern

The inheritance pattern of X-linked hypertrichosis is X-linked dominant. This means that if a mother carries the gene, there is a 50% chance that her children, regardless of gender, will inherit the condition. If a father carries the gene, all of his daughters will inherit the condition, but none of his sons will, as sons inherit their father's Y chromosome.

Diagnosis

Diagnosis of X-linked hypertrichosis is primarily based on clinical examination and family history. Genetic testing can be used to confirm the diagnosis by identifying mutations in the gene responsible for the condition.

Management

There is no cure for X-linked hypertrichosis, but management focuses on cosmetic and psychological support. Hair removal techniques, such as laser hair removal or electrolysis, can be used to reduce hair growth. Psychological support may be necessary to help individuals cope with the social and emotional impact of the condition.

Related Pages

• Hypertrichosis
• Genetic disorders
• X-linked inheritance