Steatocystoma multiplex

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(Redirected from Epidermal polycystic disease)

Steatocystoma Multiplex is a rare, benign skin condition characterized by the presence of multiple cysts known as steatocystomas. These cysts are filled with sebum, a type of oil secreted by the sebaceous glands in the skin. The condition is usually inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder on to each of their children.

Symptoms[edit | edit source]

The primary symptom of Steatocystoma Multiplex is the presence of multiple, small, skin-colored or yellowish cysts. These cysts are typically 2-20 millimeters in diameter and are most commonly found on the chest, upper arms, and thighs. They may also occur on the scalp, face, and neck. The cysts are usually painless, but they can become inflamed and cause discomfort.

Causes[edit | edit source]

Steatocystoma Multiplex is caused by mutations in the KRT17 gene, which provides instructions for making a protein that is a component of keratin, a tough, fibrous protein that forms the structural framework of certain cells, particularly cells in the skin, hair, and nails. This mutation leads to the abnormal development of the sebaceous glands, resulting in the formation of steatocystomas.

Diagnosis[edit | edit source]

The diagnosis of Steatocystoma Multiplex is typically based on the characteristic clinical features. A skin biopsy may be performed to confirm the diagnosis. Genetic testing may also be done to identify mutations in the KRT17 gene.

Treatment[edit | edit source]

There is no cure for Steatocystoma Multiplex, but treatments are available to manage the symptoms. These may include surgical removal of the cysts, laser therapy, or oral medications such as isotretinoin.

See also[edit | edit source]

Steatocystoma multiplex Resources
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Contributors: Prab R. Tumpati, MD