National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cardiomyopathy dilated with woolly hair and keratoderma


Other Names:
Carvajal syndrome; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Carvajal syndrome; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Keratoderma with woolly hair type II; KWWH type II; Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome; Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy; Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 65282

Definition
A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.

Epidemiology
Only a few cases have been reported, all involving patients from Ecuador, India or Turkey.

Clinical description
The woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The dilated cardiomyopathy may lead to life-threatening congestive heart failure.

Etiology
The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion.

Differential diagnosis
The syndrome is similar to Naxos disease (see this term).

Visit the Orphanet disease page for more resources.
Last updated: 4/1/2006

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Patchy palmoplantar keratoderma 0005588
Woolly hair
Kinked hair
0002224
5%-29% of people have these symptoms
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Ventricular tachycardia 0004756
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Cardiomyocyte hypertrophy 0031319
Congenital bullous ichthyosiform erythroderma 0007475
Edema
Fluid retention
Water retention
[ more ] 		0000969
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Reduced number of teeth
Decreased tooth count
0009804
Showing of 12 |
Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Cardiomyopathy dilated with woolly hair and keratoderma. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cardiomyopathy dilated with woolly hair and keratoderma. Click on the link to view a sample search on this topic.

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