Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy

=Charcot-Marie-Tooth Disease with Palmoplantar Keratoderma and Nail Dystrophy = Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy is a rare genetic disorder that combines features of peripheral neuropathy with skin and nail abnormalities. This condition is a variant of Charcot-Marie-Tooth disease (CMT), which is a group of inherited disorders affecting the peripheral nerves.

Overview

Charcot-Marie-Tooth disease (CMT) is characterized by progressive muscle weakness and atrophy, primarily affecting the distal muscles of the limbs. The addition of palmoplantar keratoderma and nail dystrophy introduces dermatological symptoms that are not typically seen in classic CMT.

Symptoms

The symptoms of this condition can be divided into neurological and dermatological categories:

Neurological Symptoms

• Muscle weakness and atrophy, particularly in the feet and hands
• Loss of sensation in the extremities
• Foot deformities such as high arches (pes cavus) or flat feet
• Difficulty with balance and coordination

Dermatological Symptoms

• Palmoplantar keratoderma: thickening of the skin on the palms of the hands and soles of the feet
• Nail dystrophy: abnormalities in nail growth, including thickening, ridging, or splitting of the nails

Genetics

This condition is inherited in an autosomal dominant or autosomal recessive pattern, depending on the specific genetic mutation involved. Mutations in several genes have been associated with CMT, including those encoding for proteins involved in the structure and function of peripheral nerves.

Diagnosis

Diagnosis is based on clinical evaluation, family history, and genetic testing. Electromyography (EMG) and nerve conduction studies can help assess the extent of nerve damage. Genetic testing can confirm the specific mutation responsible for the condition.

Treatment

There is currently no cure for Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy. Treatment focuses on managing symptoms and improving quality of life:

• Physical therapy to maintain muscle strength and flexibility
• Orthopedic devices such as braces or custom footwear
• Pain management strategies
• Regular dermatological care for skin and nail issues

Prognosis

The progression of symptoms can vary widely among individuals. While the condition is progressive, many people maintain a good quality of life with appropriate management.

Research

Ongoing research aims to better understand the genetic basis of this condition and to develop targeted therapies. Advances in gene therapy and molecular medicine hold promise for future treatments.

See Also

• Charcot-Marie-Tooth disease
• Peripheral neuropathy
• Keratoderma
• GeneReviews: Charcot-Marie-Tooth Disease
• National Organization for Rare Disorders (NORD)

NIH genetic and rare disease info

• NIH info on Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy

Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy is a rare disease.