Striate keratoderma
Striate Keratoderma
Striate keratoderma (pronunciation: stry-ate ker-uh-toh-dur-muh) is a rare, genetic skin disorder characterized by thickened skin on the palms and soles.
Etymology
The term "striae" is derived from Latin, meaning "stripes", and "keratoderma" is derived from Greek, with "kerato" meaning "horn" and "derma" meaning "skin". Thus, the term refers to the striped, horn-like thickening of the skin that is characteristic of this condition.
Symptoms
The primary symptom of striate keratoderma is the presence of hyperkeratotic (thickened) skin on the palms and soles, often in a striped pattern. Other symptoms may include pain due to the thickened skin cracking, and reduced sensitivity in the affected areas.
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 characteristic symptoms of striate keratoderma.
Diagnosis
Diagnosis of striate keratoderma is typically based on the characteristic physical findings and confirmed by genetic testing to identify mutations in the DSG1 gene.
Treatment
Treatment for striate keratoderma primarily involves managing the symptoms. This may include the use of emollients and keratolytics to soften and reduce the thickened skin. In some cases, retinoids may be used to slow the production of skin cells.
Related Terms
External links
- Medical encyclopedia article on Striate keratoderma
- Wikipedia's article - Striate keratoderma
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