Follicular ichthyosis

Follicular Ichthyosis is a rare genetic disorder characterized by the abnormal development of the skin. The condition is primarily associated with the excessive buildup of keratin in the hair follicles, leading to the formation of rough, scaly patches on the skin.

Symptoms

The primary symptom of Follicular Ichthyosis is the presence of rough, scaly patches on the skin. These patches are typically concentrated around the hair follicles, giving the skin a spiny or prickly appearance. Other symptoms may include dry skin, itching, and a heightened sensitivity to heat.

Causes

Follicular Ichthyosis is caused by mutations in the MBTPS2 gene. This gene provides instructions for making an enzyme that is involved in the processing of other proteins. Mutations in the MBTPS2 gene disrupt this process, leading to the accumulation of keratin in the hair follicles.

Diagnosis

Diagnosis of Follicular Ichthyosis is typically based on the physical examination of the skin. In some cases, a skin biopsy may be performed to confirm the diagnosis. Genetic testing may also be used to identify mutations in the MBTPS2 gene.

Treatment

There is currently no cure for Follicular Ichthyosis. Treatment is primarily aimed at managing the symptoms and improving the quality of life for individuals with the condition. This may involve the use of moisturizers and keratolytic agents to soften the skin and reduce scaling. In severe cases, retinoids may be used to slow the production of skin cells.

See Also

• Ichthyosis
• Genetic disorder
• MBTPS2