Monilethrix

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Monilethrix

Monilethrix (pronounced: mo-ni-le-thrix) is a rare autosomal dominant hair disorder characterized by the presence of beaded or moniliform hair shafts. The term is derived from the Greek words 'monile', meaning necklace, and 'thrix', meaning hair.

Etymology

The term "Monilethrix" is derived from the Greek words 'monile', which means necklace, and 'thrix', which means hair. This is in reference to the beaded or necklace-like appearance of the hair shafts in individuals affected by this condition.

Symptoms

The primary symptom of Monilethrix is the presence of abnormal hair shafts that have a beaded or moniliform appearance. These hair shafts are brittle and break easily, leading to hair loss or alopecia. Other symptoms may include keratosis pilaris, which is a condition characterized by rough, bumpy skin, and photophobia, which is an abnormal sensitivity to light.

Causes

Monilethrix is caused by mutations in the DSG4, KRT81, KRT83, or KRT86 genes. These genes provide instructions for making proteins that are essential for the structure and function of hair follicles.

Diagnosis

Diagnosis of Monilethrix is typically based on the characteristic appearance of the hair under a microscope. Genetic testing may also be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for Monilethrix. Treatment is typically focused on managing the symptoms and may include the use of special hair care products and avoidance of hair styling practices that can cause further damage to the hair.

Related Terms

External links

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