Keratoderma palmoplantar spastic paralysis

Keratoderma Palmoplantar Spastic Paralysis (KPP), also known as Charcot-Marie-Tooth disease type 6 (CMT6), is a rare genetic disorder characterized by a combination of palmoplantar keratoderma (thickening of the skin on the palms of the hands and soles of the feet) and spastic paralysis (a form of muscle weakness and stiffness). This condition falls under the broader category of Charcot-Marie-Tooth disease (CMT), which encompasses a group of inherited neurological disorders affecting the peripheral nerves.

Symptoms and Diagnosis

The primary symptoms of KPP include severe thickening of the skin on the palms and soles (keratoderma), progressive weakness and stiffness in the legs (spastic paraplegia), and, in some cases, sensory loss. These symptoms typically begin in early childhood but can vary in onset and severity. Diagnosis is based on clinical examination, family history, and genetic testing to identify mutations in specific genes associated with the condition.

Genetics

KPP is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder. The condition is linked to mutations in specific genes, although the exact genetic cause can vary among affected individuals. Genetic counseling is recommended for affected families to understand the inheritance pattern and the risks to other family members.

Treatment and Management

There is currently no cure for KPP. Treatment focuses on managing symptoms and improving quality of life. This may include the use of moisturizers and keratolytic agents to treat skin symptoms, physical therapy to maintain mobility and reduce muscle stiffness, and, in some cases, medications to manage pain and spasticity. Orthopedic devices may also be recommended to support weakened limbs.

Prognosis

The prognosis for individuals with KPP varies depending on the severity of symptoms and the effectiveness of management strategies. While the condition can significantly impact daily activities and mobility, with appropriate care, many individuals can lead active lives.

See Also

• Charcot-Marie-Tooth disease
• Palmoplantar keratoderma
• Spastic paraplegia

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