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Disease Profile

Palmoplantar keratoderma

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

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ICD-10

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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)

Keratoderma, Palmoplantar

Categories

Skin Diseases

Summary

Palmoplantar keratoderma (PPK) is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. PPK can also be a feature of various underlying syndromes.[1] In rare forms of PPK, organs other than the skin may also be affected. PPK can be either acquired during the lifetime (more commonly) or inherited. Acquired PPKs may arise due to changes in a person's health or environment.[2] Inherited PPKs are caused by genetic mutations that result in abnormalities of keratin, a skin protein. Depending on the genetic cause, inheritance can be autosomal dominant or autosomal recessive.[1][2] Treatment is aimed at softening the thickened skin to make it less noticeable and relieve discomfort.[2]

Diagnosis

Diagnosis of palmoplantar keratoderma (PPK) may involve a clinical exam, evaluating the medical and family history, histopathology (viewing tissue from a skin biopsy under a microscope), and genetic testing (if hereditary PPK is suspected).

In addition to identifying thickened skin on the palms of the hands and soles of the feet, an exam is needed to check for involvement of other areas of the skin; the nails, hair, and teeth; and other organs of the body.[3] Distinguishing between acquired and hereditary PPK is important. Acquired PPK usually occurs later in life and may be due to many causes, such as drugs, malnutrition, chemicals, systemic disease, cancer, and infection.[4]

The family history may be helpful in identifying hereditary PPK and establishing the inheritance pattern.[3] Lack of a family history is not necessarily evidence of acquired PPK. Autosomal recessive PPK can appear sporadically from unaffected parent carriers, and autosomal dominant PPK can also occur sporadically due to a new mutation in an affected person (a de novo mutation).[4]

Histopathology of a biopsy from affected skin should be part of the diagnostic workup. This may show more specific features characteristic of a subtype of PPK. Distinguishing between epidermolytic and nonepidermolytic forms of PPK is helpful for treatment options, as epidermolytic forms tend to worsen on systemic retinoids. Histopathology is also needed to rule out other conditions with overlapping features.[3]

Genetic testing allows for a precise diagnosis as well as counseling with regard to the inheritance pattern and risk of recurrence.[3] The Genetic Testing Registry (GTR) provides information about the genetic tests for each hereditary type of PPK. 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

Treatment of both hereditary and acquired palmoplantar keratodermas (PPK) is difficult.[1] The goal of treatment is to soften the thickened skin and make it less noticeable.[2] In many cases, treatment only results in short-term improvement and often has unwanted side effects.[1] For people with acquired PPK, it is important to screen for systemic illnesses, infections, culprit drugs, and neoplasia (tumor formation). Treating the underlying condition or stopping possible triggers is the most effective treatment for acquired PPK.

Treatment options may depend on the specific type of PPK a person has and may include:[1][2]

Currently, to our knowledge, there is no way to prevent PPK in a person who has inherited PPK but has not yet developed symptoms.

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

    • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
    • The Foundation for Ichthyosis Related Skin Types has a fact sheet on Palmoplantar Keratodermas (PPK). To view this page, click on the link.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • 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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Palmoplantar keratoderma. Click on the link to view a sample search on this topic.

        References

        1. Charny JW. Keratosis Palmaris et Plantaris. Medscape Reference. June 10, 2016; https://emedicine.medscape.com/article/1108406-overview#showall.
        2. Stanway A. Palmoplantar keratoderma. DermNet New Zealand. 2005; https://www.dermnetnz.org/topics/palmoplantar-keratoderma/.
        3. Has C, Technau-Hafsi K. Palmoplantar keratodermas: clinical and genetic aspects. J Dtsch Dermatol Ges. February, 2016; 14(2):123-139.
        4. Sakiyama T, Kubo A. Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis". J Dermatol. March, 2016; 43(3):264-274.

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