Trichorrhexis invaginata

Trichorrhexis invaginata is a rare genetic disorder that affects the hair shaft. It is also known as Bamboo hair due to the characteristic appearance of the hair under a microscope. The condition is often associated with Netherton syndrome, a severe skin disorder.

Symptoms

The primary symptom of trichorrhexis invaginata is brittle hair that breaks easily. The hair may also appear dull and lackluster. In some cases, the condition may also cause slow hair growth or hair loss.

Causes

Trichorrhexis invaginata is caused by mutations in the SPINK5 gene. This gene provides instructions for making a protein called LEKTI, which is involved in the growth and development of the skin and hair. Mutations in the SPINK5 gene disrupt the normal function of LEKTI, leading to the characteristic features of trichorrhexis invaginata.

Diagnosis

Diagnosis of trichorrhexis invaginata is typically made through a detailed examination of the hair under a microscope. The hair shafts often have a distinctive "bamboo" appearance, with areas of normal thickness alternating with thinner, weaker sections. Genetic testing may also be performed to confirm the diagnosis.

Treatment

There is currently no cure for trichorrhexis invaginata. Treatment is typically focused on managing the symptoms of the condition. This may include the use of special hair care products designed for brittle hair, as well as avoiding activities that can damage the hair, such as brushing or combing too vigorously.

See also

• Netherton syndrome
• Hair shaft disorders
• Genetic disorders

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