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Palmoplantar keratoderma and Charcot-Marie-Tooth disease
Archives of Dermatology
|July 1, 1980
Summary
Palmoplantar keratoderma (PPK) and Charcot-Marie-Tooth disease (CMT) are closely linked. This study found they are likely inherited together as an autosomal dominant trait, suggesting a shared genetic cause.
Area of Science:
- Genetics
- Neurology
- Dermatology
Background:
- Palmoplantar keratoderma (PPK) and Charcot-Marie-Tooth disease (CMT) are distinct conditions.
- A familial association between PPK and CMT has not been previously reported.
Purpose of the Study:
- To investigate the potential genetic association between PPK and CMT.
- To characterize the clinical and genetic features of affected family members.
Main Methods:
- Clinical examinations
- Genealogic studies
- Electroneurophysiologic assessments
- Chromosome analysis
- Urinary amino acid analysis
- Histopathologic examinations
Main Results:
- A strong association was observed between PPK and CMT in nine family members across five generations.
- CMT manifested with advancing age exclusively in individuals with PPK.
- The conditions appear to be transmitted as an autosomal dominant trait.
Conclusions:
- PPK and CMT are genetically associated.
- This represents the first reported instance of a linkage between PPK and CMT.
- Autosomal dominant inheritance is suggested for this combined phenotype.