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Disease Profile

Peeling skin syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q80.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Keratolysis exfoliativa congenita; Familial continuous skin peeling; Skin peeling syndrome;

Categories

Skin Diseases

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]

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]

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.

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

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]

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]

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 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.

    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

      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.

          References

          1. Sprecher E, Samuelov L. Peeling skin syndrome. UpToDate. Updated Sept. 8, 2020; https://www.uptodate.com/contents/peeling-skin-syndromes.
          2. 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.
          3. 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.
          4. Skin Peeling Syndrome. Orphanet. July 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=817. Accessed 3/30/2010.
          5. 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.
          6. 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.

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