Ichthyosis with confetti

Ichthyosis with confetti is a rare genetic skin disorder characterized by red, scaly skin and spots of normal skin (the "confetti"). It is caused by mutations in the KRT10 or KRT1 gene and is inherited in an autosomal dominant manner. Treatment is focused on managing the symptoms and may include the use of moisturizers, keratolytic agents, and retinoids.

Symptoms

The main symptom of ichthyosis with confetti is red, scaly skin that is present at birth or develops in early infancy. The skin abnormalities cover most of the body and can be severe. Over time, small spots of normal skin appear, giving the appearance of "confetti." Other symptoms may include hair loss, nail abnormalities, and eye abnormalities.

Causes

Ichthyosis with confetti is caused by mutations in the KRT10 or KRT1 gene. These genes provide instructions for making proteins that are part of keratin, a tough, fibrous protein that forms the structural framework of certain cells, particularly cells in the skin, hair, and nails.

Diagnosis

Diagnosis of ichthyosis with confetti is based on the clinical symptoms, the family history, and confirmed by genetic testing. The genetic testing can identify mutations in the KRT10 or KRT1 gene.

Treatment

There is no cure for ichthyosis with confetti, and treatment is focused on managing the symptoms. This may include the use of moisturizers to help keep the skin soft, keratolytic agents to help remove scales, and retinoids to reduce the production of skin cells.

See also

• Ichthyosis
• Keratin
• Genetic disorder
• Skin disorder

References

Ichthyosis with confetti Resources
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