Ichthyosis bullosa of Siemens

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Ichthyosis bullosa of Siemens

Ichthyosis bullosa of Siemens (pronounced ik-thee-OH-sis bull-OH-sa of SEE-mens) is a rare genetic skin disorder characterized by the formation of blistering lesions that may resemble those seen in Epidermolysis bullosa. The condition is named after the German dermatologist Hermann Werner Siemens, who first described it in 1937.

Etymology

The term "Ichthyosis" is derived from the Greek word "ichthys," which means fish. This is in reference to the scaly skin that is often associated with the condition. "Bullosa" is derived from the Latin word "bulla," meaning bubble, which refers to the blistering lesions that are characteristic of the condition.

Symptoms

The primary symptom of Ichthyosis bullosa of Siemens is the formation of blistering lesions on the skin. These lesions are typically present at birth or develop shortly thereafter. Other symptoms may include hyperkeratosis (thickening of the skin), erythema (redness of the skin), and pruritus (itching).

Causes

Ichthyosis bullosa of Siemens is caused by mutations in the Keratin 2 gene. This gene provides instructions for making a protein that is a crucial component of the intermediate filaments in cells. These filaments provide structure and strength to cells. Mutations in the Keratin 2 gene disrupt the normal formation of these filaments, leading to the skin abnormalities seen in Ichthyosis bullosa of Siemens.

Diagnosis

Diagnosis of Ichthyosis bullosa of Siemens is typically based on the characteristic skin findings. Genetic testing can confirm the diagnosis by identifying a mutation in the Keratin 2 gene.

Treatment

There is currently no cure for Ichthyosis bullosa of Siemens. Treatment is aimed at managing the symptoms and may include the use of emollients to moisturize the skin and keratolytics to remove excess skin. In some cases, retinoids may be used to reduce the production of skin cells.

See also

External links

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