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Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
1Luis Vernaza Hospital, Guayaquil, Ecuador.
Insights
A new cardiocutaneous syndrome links woolly hair and palmoplantar keratoderma to dilated cardiomyopathy. Early cardiac screening is vital for affected individuals to prevent heart failure.
Area of Science:
- Dermatology
- Cardiology
- Genetics
Background:
- A novel cardiocutaneous syndrome is identified.
- Characterized by epidermolytic palmoplantar keratoderma and woolly hair.
- Associated with dilated cardiomyopathy.
Purpose of the Study:
- To describe the clinical and histopathologic features of this new syndrome.
- To establish diagnostic criteria and understand disease progression.
Main Methods:
- Clinical and histological examination of 18 patients (1970-1997).
- Cardiologic evaluations, including electrocardiography and echocardiography, in 12 patients.
- Classification of cutaneous lesions based on syndrome-specific elements.
Main Results:
- Patients presented with congenital woolly hair, followed by palmoplantar keratoderma.
- Early cardiac abnormalities were electrocardiographic in asymptomatic individuals.
- Progressive left ventricular dilation and impaired contractility observed, potentially leading to heart failure.
Conclusions:
- The co-occurrence of woolly hair, palmoplantar keratoderma (epidermolytic hyperkeratosis), and dilated cardiomyopathy defines a distinct cardiocutaneous syndrome.
- This association has not been previously documented.
- Recommend cardiac evaluation for individuals with woolly hair and palmoplantar keratoderma to detect potential cardiac involvement early.
Background:
A new cardiocutaneous syndrome has been noted, characterized by an epidermolytic palmoplantar keratoderma and woolly hair, and associated with dilated cardiomyopathy.
Objective:
This describes the clinical and histopathologic characteristics of this new syndrome.
Methods:
Eighteen patients were examined clinically and histologically from 1970 to 1997. Cardiologic examinations were performed in 12 patients. The cutaneous lesions were classified according to the presence of obligatory and facultative elements of the syndrome.
Results:
Patients were born with woolly hair. Around the first year palmoplantar keratoderma and the other keratotic elements appeared. The first cardiac abnormalities are exclusively electrocardiographic and occur in asymptomatic patients. In these patients, dilation of the left ventricle together with alterations in muscle contractility are observed. The dilated cardiomyopathy can lead to congestive heart failure and death.
Conclusion:
The association of woolly hair and palmoplantar keratoderma with a histopathologic pattern of epidermolytic hyperkeratosis has not been previously described. Their frequent association with dilated cardiomyopathy defines a cardiocutaneous syndrome. Whenever woolly hair is associated with any kind of palmoplantar keratoderma, a search for possible cardiac abnormalities is recommended.