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Disease Profile

Acral 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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)

Acral PSS; Acral deciduous skin; Localized PSS;

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

Acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. "Acral" refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and legs.[1][2] The peeling is usually present from birth, but can appear later in childhood or early adulthood.[1][3] Acral peeling skin syndrome can be caused by mutations in the TGM5 gene.[1][2] Mutations in the CSTA gene have also been linked to this condition.[2] It is inherited in an autosomal recessive pattern.[1][3] There is no cure for acral peeling skin syndrome. Treatment is aimed at treating the symptoms present in each individual.[4]

Symptoms

Acral peeling skin syndrome is characterized by painless peeling of the top layer of skin (the epidermis). The term "acral" refers to the fact that the peeling is most apparent on the hands and feet.[1][5] Occasionally, peeling may also occur on the arms and legs.[1] Symptoms typically develop soon after birth, but may also begin in childhood or early adulthood. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be itchy and red, and in rare cases, blisters may form. The affected areas typically heal without scarring.[1][5][4] Acral peeling skin syndrome is not associated with any other health problems and generally doesn't significantly impair quality of life.[1][4]

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
30%-79% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters

[ more ]

0008066
Allergy
0012393
Eczema
0000964
Erythema
0010783
High hypermetropia
Severe farsightedness
Severe long-sightedness

[ more ]

0008499
Ichthyosis
0008064
Scaling skin
flaking skin
peeling skin
scaly skin

[ more ]

0040189
5%-29% of people have these symptoms
Excessive wrinkling of palmar skin
Redundant, wrinkled skin of palms
0007605
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Macule
Flat, discolored area of skin
0012733
Papule
0200034
Skin erosion
0200041
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007

Cause

Acral peeling skin syndrome is often caused by mutations in the TGM5 gene.[1][2] This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the epidermis (the outer layer of skin). Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells and helps the skin form a protective barrier between the body and the environment.[1]

TGM5 gene mutations reduce the production of transglutaminase 5 or prevent cells from making any of the protein. A shortage or absence of this protein weakens the cornified cell envelope, allowing the outermost cells of the epidermis to separate easily from the underlying skin and peel off. This peeling is most noticeable on the hands and feet because these areas are more frequently exposed to moisture and friction.[1]

More recently, recessive loss of function mutations in the CSTA gene have been linked to this condition.[2]

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.

    Treatment

    There is no cure for acral peeling skin syndrome.[4][5] Treatment is centered on preventing skin damage and addressing symptoms as they occur.[5] Emollients are often used to reduce skin peeling.[4] If blister develop, they may be lanced with a sterile needle. Light dressings should be applied to prevent infection. The condition may be made worse by hot temperatures, high humidity, and friction. Individuals with acral peeling skin syndrome should avoid these condition, when possible.[5] Immersion in water should also be avoided.[4]

    Additional treatment information and tips for daily living are available through the Information Leaflet for Parents/Carers which was developed by the Birmingham Children's Hospital NHS Foundation Trust.

    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

      • Debra UK and the Birmingham Children's Hospital have developed an information leaflet for parents and caregivers about acral peeling skin syndrome. Click on the link to access this document.
      • MedlinePlus Genetics contains information on Acral 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 Acral peeling skin syndrome. Click on the link to view a sample search on this topic.

          References

          1. Acral peeling skin syndrome. Genetics Home Reference (GHR). April 2014; https://ghr.nlm.nih.gov/condition/acral-peeling-skin-syndrome.
          2. Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA, Batta K. Acral peeling skin syndrome associated with a novel CSTA gene mutation. Clin Exp Dermatol. 2015 Dec 18; https://www.ncbi.nlm.nih.gov/pubmed/26684698.
          3. Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA. Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. Pediatr Dermatol. 2012 May-Jun; 29(3):258-63. https://www.ncbi.nlm.nih.gov/pubmed/22066523.
          4. Jonca N, Mazereeuw-Haytier J. Acral peeling skin syndrome. Orphanet. September 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534.
          5. Taylor J, Browne F, Moss C. Information Leaflet for parents/carers: Acral peeling skin syndrome. Birmingham Children’s Hospital NHS Foundation Trust. March 2013; https://www.debra.org.uk/downloads/community-support/acral-peeling-skin-syndrome.pdf.

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