Lamellar ichthyosis

Lamellar ichthyosis is a rare, autosomal recessive genetic disorder that affects the skin. It is characterized by the presence of large, dark, plate-like scales over the entire body. The condition is usually apparent at birth and continues throughout the individual's life.

Symptoms

The most common symptom of lamellar ichthyosis is the presence of large, dark scales that cover the entire body. These scales can cause discomfort and restrict movement. Other symptoms may include ectropion, which is a condition where the eyelids turn outwards, and alopecia, or hair loss. Some individuals may also experience difficulties with temperature regulation due to the abnormal skin.

Causes

Lamellar ichthyosis is caused by mutations in the TGM1 gene. This gene provides instructions for making an enzyme that is essential for the formation of the skin's outermost layer. Mutations in the TGM1 gene disrupt the normal formation of this layer, leading to the characteristic scales of lamellar ichthyosis.

Diagnosis

Diagnosis of lamellar ichthyosis is usually based on the characteristic physical signs and symptoms. Genetic testing can confirm the diagnosis and identify the specific mutation causing the condition.

Treatment

There is currently no cure for lamellar ichthyosis. Treatment is aimed at managing the symptoms and may include the use of moisturizers and keratolytic agents to help soften and remove the scales. In severe cases, retinoids may be used to reduce the production of skin cells.

See also

• Ichthyosis
• Genetic disorder
• TGM1

References

Lamellar ichthyosis Resources
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