Ichthyosis with confetti

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Ichthyosis with confetti (pronounced ik-thee-OH-sis with kon-fetti) is a rare skin condition characterized by widespread, persistent thick, dry, "fish-scale" skin. The name "ichthyosis" is derived from the Ancient Greek ιχθύς (ichthys), meaning "fish". The term "confetti" refers to the small, white spots of normal skin that appear amidst the affected skin, resembling confetti.

Symptoms

The primary symptom of Ichthyosis with confetti is the presence of red, scaly skin that covers large portions of the body. The skin abnormalities are usually present at birth or appear in early childhood. The small, white spots of normal skin (the "confetti") typically begin to appear in childhood and increase in number over time.

Causes

Ichthyosis with confetti is caused by mutations in the KRT10 or KRT1 gene. These genes provide instructions for making proteins that are essential for the structure and function of keratinocytes, the predominant cell type in the epidermis (the outer layer of the skin).

Treatment

There is currently no cure for Ichthyosis with confetti. Treatment is aimed at managing the symptoms and includes the use of moisturizers and keratolytic agents to help manage the dry, scaly skin.

See also

External links

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