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rare genetic disorder causing thickened skin on palms and soles

Olmsted Syndrome is a rare genetic disorder characterized by severe palmoplantar keratoderma (thickening of the skin on the palms and soles) and periorificial keratotic plaques (hardened skin around body openings like the mouth and eyes). It often leads to significant pain, restricted movement, and can be associated with other symptoms such as alopecia (hair loss) and nail abnormalities. The condition is typically caused by mutations in the TRPV3 gene.

Related Terms

• Palmoplantar Keratoderma
• Periorificial Keratotic Plaques