Rare Pediatrics News
Disease Profile
Peeling skin syndrome
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Keratolysis exfoliativa congenita; Familial continuous skin peeling; Skin peeling syndrome;
Categories
Skin Diseases
Summary
Peeling skin
Symptoms
- 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 | |
0000007 | ||
Brittle hair | 0002299 | |
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 |
Decreased body height
Small stature
[ more ] |
0004322 |
Diagnosis
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
People with peeling skin syndrome may be treated by a
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: [email protected]
Website: https://www.firstskinfoundation.org/
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
- 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; https://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.
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