Ichthyosis bullosa of Siemens

Ichthyosis bullosa of Siemens (IBS) is a rare genetic skin disorder characterized by the presence of blistering and peeling skin. It is a type of ichthyosis, a group of skin conditions that cause dry, scaly skin. IBS is caused by mutations in the keratin 2 gene (KRT2).

Symptoms

The main symptom of IBS is the presence of blistering and peeling skin, which is usually present at birth or appears in early infancy. The skin may also be red and inflamed. The blisters and peeling skin are most commonly found on the limbs, but can also occur on the trunk. Other symptoms may include hyperkeratosis (thickening of the skin), erythema (redness of the skin), and pruritus (itching).

Causes

IBS is caused by mutations in the KRT2 gene. This gene provides instructions for making a protein called keratin 2, which is found in the outer layer of the skin. Mutations in the KRT2 gene disrupt the normal structure and function of keratin 2, leading to the skin abnormalities seen in IBS.

Diagnosis

The diagnosis of IBS is usually based on the characteristic skin abnormalities. A skin biopsy may be performed to confirm the diagnosis. Genetic testing can also be used to identify mutations in the KRT2 gene.

Treatment

There is currently no cure for IBS. Treatment is aimed at managing the symptoms and may include the use of emollients to moisturize the skin, keratolytics to remove excess skin, and anti-inflammatory medications to reduce inflammation and itching.

See also

• Ichthyosis
• Keratin
• Genetic disorder
• Skin biopsy
• Genetic testing

Ichthyosis bullosa of Siemens Resources
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