Peeling skin syndrome

Title

Other Names:

Keratolysis exfoliativa congenita; Familial continuous skin peeling; Skin peeling syndrome; Keratolysis exfoliativa congenita; Familial continuous skin peeling; Skin peeling syndrome; Deciduous skin; Familial continuous skin peeling syndrome; Idiopathic deciduous skin; Keratosis exfoliativa congenita; Peeling skin disease; PSS See More

Categories:

Skin Diseases

Subtypes:

Acral peeling skin syndrome; Generalized peeling skin syndrome

Summary Summary

Peeling skin syndrome is a genetic disorder characterized by continual peeling of the skin. Affected individuals may also experience itching and reddening of the skin. The signs and symptoms of peeling skin syndrome usually appear soon after birth, but they may also develop later in life. There are two main subtypes of this condition, called noninflammatory type A and inflammatory type B. In some families, an acral form of peeling skin syndrome has been reported, in which skin peeling is strictly limited to the hands and feet. Peeling skin syndrome has an autosomal recessive pattern of inheritance. Mutations in the TGM5 gene have been identified in several patients with the acral form of peeling skin syndrome.^[1]

Last updated: 3/30/2010

Symptoms Symptoms

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
Abnormal blistering of the skin	Blistering, generalized Blisters [ more ]	0008066
Aminoaciduria	High urine amino acid levels Increased levels of animo acids in urine [ more ]	0003355
Dry skin		0000958
Ichthyosis		0008064
30%-79% of people have these symptoms
Abnormality of hair texture		0010719
Hyperhidrosis	Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ]	0000975
Multiple cafe-au-lait spots		0007565
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis	Laboratory abnormality Metabolism abnormality [ more ]	0001939
Asthma		0002099
Autosomal recessive inheritance		0000007
Brittle hair		0002299
Congenital onset	Symptoms present at birth	0003577
Erythema		0010783
Increased circulating total IgE level		0003212
Onycholysis	Detachment of nail	0001806
Pruritus	Itching Itchy skin Skin itching [ more ]	0000989
Scaling skin	flaking skin peeling skin scaly skin [ more ]	0040189
Short stature	Decreased body height Small stature [ more ]	0004322

Showing of 18 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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.
Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment

There is currently no cure for peeling skin syndrome and unfortunately, no effective treatment has been reported. Topical emollients (skin softening ointments) may help; plain petroleum jelly has been used by some individuals.^[2]^[3] Keratolytic agents might speed up shedding and improve appearance. Treatments such as methotrexate, UVB phototherapy, isotretinoin, and oral corticosteroid therapy have been found to be ineffective in past studies.^[2]

Last updated: 6/13/2011

Find a Specialist Find a Specialist

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

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.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations Organizations

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

Foundation for Ichthyosis and Related Skin Types (FIRST)
2616 North Broad Street
Colmar, PA 18915
Toll-free: 1-800-545-3286
Telephone: +1-215-997-9400
E-mail: info@firstskinfoundation.org
Website: http://www.firstskinfoundation.org/
Genetic Skin Disease Center
Stanford Medical Dermatology Clinic
Stanford Medicine Outpatient Center
450 Broadway
Pavilion B, 4th Floor
Redwood City, CA 94063
Telephone: 650-723-6316
Fax: 650-725-7711
Website: http://dermatology.stanford.edu/contact/

Do you know of an organization? We want to hear from you.

Learn More Learn More

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 Peeling skin syndrome. This website is maintained by the National Library of Medicine.
DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Peeling skin syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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. Submit a new question

Are there any cures for this disorder? I read somewhere that gene therapy may be a potential treatment. If not, are there any topical treatments that can ease my symptoms? See answer

Have a question? Contact a GARD Information Specialist.