Ichthyosis linearis circumflexa

Ichthyosis linearis circumflexa is a rare form of ichthyosis, a group of genetic skin disorders characterized by dry, thickened, scaly or flaky skin. It is also known as Netherton syndrome or Comèl-Netherton syndrome, named after the physicians who first described it.

Symptoms

The main symptom of ichthyosis linearis circumflexa is the presence of red, scaly skin that forms in a circular pattern. This is often accompanied by alopecia (hair loss), atopic dermatitis (eczema), and a failure to thrive in infancy. Other symptoms may include hyperkeratosis (thickening of the skin), pruritus (itching), and an increased susceptibility to infections.

Causes

Ichthyosis linearis circumflexa is caused by mutations in the SPINK5 gene. This gene provides instructions for making a protein called LEKTI, which is found in the outermost layer of skin and is involved in the process of skin cell growth and replacement. Mutations in the SPINK5 gene disrupt the normal function of the LEKTI protein, leading to the skin abnormalities seen in this condition.

Diagnosis

Diagnosis of ichthyosis linearis circumflexa is based on the characteristic skin findings and confirmed by genetic testing for mutations in the SPINK5 gene.

Treatment

There is currently no cure for ichthyosis linearis circumflexa. Treatment is aimed at managing the symptoms and may include the use of moisturizers and keratolytic agents to help soften and remove the scales, as well as antibiotics to treat any secondary skin infections.

See also

• Ichthyosis
• Genetic disorder
• Skin disorder

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