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 (PSS) refers to a group of conditions that causes skin to peel and tear easily. The main symptom is continual peeling of the skin. The peeling skin is usually painless. Additional symptoms may depend on the form of PSS. Some people with PSS have itching, redness, and scarring. The symptoms of PSS can appear anytime from birth to adulthood, but usually occur by childhood. There are two forms of PSS. In the generalized form, skin peeling involves most of the body. The generalized form has two subtypes, noninflammatory and inflammatory. There is an acral form in which skin peeling is limited to the hands and feet. PSS is caused by genetic variants in several different genes and is inherited in an autosomal recessive pattern of inheritance. PSS is diagnosed based on the symptoms. Other more common conditions may need to be excluded. Treatment is focused on managing the symptoms.^[1]^[2]^[3]

Last updated: 9/21/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with peeling skin syndrome (PSS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:^[2]^[3]

Continuous peeling of the outer layer of the skin
Itching
Darkened skin patches (hyperpigmentation)
Redness

Symptoms can begin at any age, but usually begin in childhood. In some types of peeling skin syndrome, the skin peeling is painless and there are few, if any, additional symptoms. Some people develop scarring around the areas of skin peeling. The area of the body involved depends on the type of PSS.^[2]

Last updated: 9/21/2020

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 18 |

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 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: 2/1/2021

Cause Cause

Peeling skin syndrome is caused by the TGM5, CSTA, CHST8, SERPINB8, FLG2, or CDSN gene not working correctly. There may be other unknown genes involved as well. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.^[1]

Last updated: 9/21/2020

Inheritance Inheritance

Peeling skin syndrome is inherited in an autosomal recessive pattern.^[1]^[2] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.

People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Last updated: 9/21/2020

Diagnosis Diagnosis

Peeling skin syndrome is diagnosed based on the symptoms, a clinical exam, and a careful exam of a piece of skin under the microscope. Genetic testing may be helpful. Other more common conditions may need to be excluded before a diagnosis of peeling skin syndrome can be made.^[1]^[2]^[3]

Last updated: 9/21/2020

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

Treatment for peeling skin syndrome is focused on managing the symptoms. Skin softening ointments and plain petroleum jelly have been used by some individuals. Keratolytic agents which remove excess skin can help speed up shedding and improve appearance.^[1]^[3]

People with peeling skin syndrome may be treated by a dermatologist.

Last updated: 9/21/2020

Statistics Statistics

Peeling skin syndrome is very rare. It is unknown exactly how many people have this condition.

Last updated: 9/21/2020

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

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 MedlinePlus Genetics.

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/

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

DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
Genetics Home Reference (GHR) contains information on Peeling skin syndrome. This website is maintained by the National Library of Medicine.
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.

Have a question? Contact a GARD Information Specialist.

References References

Sprecher E, Samuelov L. Peeling skin syndrome. UpToDate. Updated Sept. 8, 2020; https://www.uptodate.com/contents/peeling-skin-syndromes.
Has C. Peeling Skin Disorders: A Paradigm for Skin Desquamation. J Invest Dermatol. Aug 2018; 138(8):1689-1691. https://pubmed.ncbi.nlm.nih.gov/30032785.
El Hanbuli HM, Elmahdi MH, Kamal N. Peeling Skin Syndrome: A Pathologically Invisible Dermatosis. J Microsc Ultrastruct.. Jul-Sep 2019; 7(3):141-142. https://pubmed.ncbi.nlm.nih.gov/31548926.
Skin Peeling Syndrome. Orphanet. July 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=817. Accessed 3/30/2010.
Alfares A, Al-Khenaizan S, Al Mutairi F. Peeling skin syndrome associated with novel variant in FLG2 gene. Am J Med Genet A.. Dec 2017; 173(12):3201-3204. https://pubmed.ncbi.nlm.nih.gov/28884927.
Singhal AK, Yadav DK, Soni B, Arya S. A Case of Peeling Skin Syndrome. Indian Dermatol Online J. May-Jun 2017; 8(3):208-210. https://pubmed.ncbi.nlm.nih.gov/28584761.