Striate keratoderma

Striate keratoderma is a rare, autosomal dominant skin disorder that is characterized by the presence of hyperkeratosis on the palms and soles. The condition is also known as Focal palmoplantar keratoderma with oral mucosal hyperkeratosis.

Symptoms and Signs

The primary symptom of striate keratoderma is the presence of thickened skin on the palms and soles. This can lead to discomfort and pain, particularly when walking or using the hands. Other symptoms can include:

• Hyperkeratosis: This is a condition where the skin becomes thicker than normal. In the case of striate keratoderma, this typically occurs on the palms and soles.
• Palmoplantar keratoderma: This is a condition where the skin on the palms and soles becomes thick and rough.
• Oral mucosal hyperkeratosis: This is a condition where the lining of the mouth becomes thick and rough.

Causes

Striate keratoderma is caused by mutations in the DSG1 gene. This gene provides instructions for making a protein that is essential for the structure and function of the skin. Mutations in the DSG1 gene disrupt the normal development of the skin, leading to the symptoms of striate keratoderma.

Diagnosis

The diagnosis of striate keratoderma is typically made based on the presence of characteristic symptoms. A skin biopsy may be performed to confirm the diagnosis. Genetic testing may also be performed to identify mutations in the DSG1 gene.

Treatment

There is currently no cure for striate keratoderma. Treatment is aimed at managing the symptoms and can include the use of emollients and keratolytics to soften and reduce the thickness of the skin. In severe cases, oral retinoids may be used.

See also

• Palmoplantar keratoderma
• Hyperkeratosis
• DSG1

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