Palmoplantar keratoderma-spastic paralysis syndrome

Palmoplantar keratoderma-spastic paralysis syndrome is a very rare inherited condition that affects both the skin and the nervous system at the same time. It is sometimes called Charcot-Marie-Tooth disease with palmoplantar keratoderma, or referred to by the names of the doctors who first described it. The condition causes two main problems: thick, hardened skin on the palms of the hands and the soles of the feet (called palmoplantar keratoderma), and progressive muscle stiffness and weakness in the legs due to damage to the nerves that control movement (called spastic paralysis or spastic paraplegia). The skin changes usually appear in childhood and can cause discomfort, cracking, and difficulty with everyday tasks involving the hands and feet. The neurological symptoms, including leg stiffness, muscle weakness, and difficulty walking, tend to develop over time and can gradually worsen. Some people also experience changes in sensation, such as numbness or tingling in the limbs. There is currently no cure for this syndrome. Treatment focuses on managing symptoms. Skin care routines, moisturizers, and keratolytic creams can help soften the thickened skin. Physical therapy and mobility aids can help maintain walking ability and independence for as long as possible. A team of specialists is usually needed to provide the best care.

Bring these to your next appointment

• Q1.What genetic tests should I have to confirm the diagnosis and identify the specific gene involved?,How quickly might my neurological symptoms progress, and what signs should I watch for?,What skin care products or treatments do you recommend for the thickened skin on my hands and feet?,What physical therapy program would be most helpful for maintaining my walking ability?,Are there any clinical trials or research studies I could participate in?,Should my family members be tested for this condition?,What mobility aids or home modifications should I consider now or plan for in the future?

Common questions about Palmoplantar keratoderma-spastic paralysis syndrome