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  3. Autosomal recessive palmoplantar keratoderma and congenital alopecia
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Autosomal recessive palmoplantar keratoderma and congenital alopecia


Title


Other Names:
Cataract, alopecia, sclerodactyly syndrome; CASS; Cataract, alopecia, sclerodactyly
Categories:
Congenital and Genetic Diseases; Skin Diseases

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1366

Definition
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.

Epidemiology
To date, autosomal recessive PPK-CA has been reported in two families (seven affected individuals). An additional sporadic patient was likely affected by the same condition.

Clinical description
Similarly to the dominant variant, autosomal recessive PPK-CA usually presents during infancy. Its very early onset is often characterized by fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features which appear in the following years. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces. Periungueal involvement is typical and leads to secondary nail dystrophy. Autosomal recessive PPK-CA shows a relatively more severe evolution compared to the dominant variant as many patients develop sclerodactyly, small joint contractures and pseudo-ainhum. The original family also had congenital cataract.

Etiology
The genetic basis of autosomal recessive PPK-CA is unknown.

Genetic counseling
Transmission appears to be autosomal recessive.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2013

Symptoms Symptoms


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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.

Showing of 21 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Alopecia totalis 0007418
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin
[ more ]
0008065
Atypical scarring of skin
Atypical scarring
0000987
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Lack of skin elasticity 0100679
Nail dystrophy
Poor nail formation
0008404
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
0001482
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ]
0000505
Percent of people who have these symptoms is not available through HPO
Amniotic constriction ring 0009775
Autosomal recessive inheritance 0000007
Camptodactyly of finger
Permanent flexion of the finger
0100490
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Dry skin 0000958
Facial erythema
Blushed cheeks
Blushing
Red face
Red in the face
[ more ]
0001041
Hyperkeratosis 0000962
Keratosis pilaris 0032152
Nail dysplasia
Atypical nail growth
0002164
Palmoplantar hyperkeratosis
Thickening of the outer layer of the skin of the palms and soles
0000972
Sclerodactyly 0011838
Showing of 21 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 12/1/2019
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Autosomal recessive palmoplantar keratoderma and congenital alopecia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Autosomal recessive palmoplantar keratoderma and congenital alopecia:
    The National Registry for Ichthyosis & Related Skin Disorders
     

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • American Hair Loss Association
    23679 Calabasas Road # 682
    Calabasas, CA 91301-1502
    E-mail: info-ahla@americanhairloss.org
    Website: http://americanhairloss.org
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

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 Autosomal recessive palmoplantar keratoderma and congenital alopecia. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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You can help advance rare disease research!
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