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Disease Profile
Palmoplantar keratoderma
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.
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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.
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)
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,
Diagnosis
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
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.
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 options may depend on the specific type of PPK a person has and may include:[1][2]
- Saltwater soaks
- Emollients
- Paring (cutting away layers of skin)
- Topical keratolytics (useful for people with limited keratoderma)
- Topical retinoids (this is often limited by skin irritation)
- Systemic retinoids (acitretin)
- Topical vitamin D ointment (calcipotriol)
- Surgery to remove the skin, followed by skin grafting
- Potent topical steroids with or without keratolytics in cases with an inflammatory component
- Psoralens and ultraviolet A (PUVA) or re-PUVA (a combination of oral retinoids and PUVA) in some people with PPK secondary to psoriasis or eczema
Currently, to our knowledge, there is no way to prevent PPK in a person who has
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
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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
- 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
- Charny JW. Keratosis Palmaris et Plantaris. Medscape Reference. June 10, 2016; https://emedicine.medscape.com/article/1108406-overview#showall.
- Stanway A. Palmoplantar keratoderma. DermNet New Zealand. 2005; https://www.dermnetnz.org/topics/palmoplantar-keratoderma/.
- Has C, Technau-Hafsi K. Palmoplantar keratodermas: clinical and genetic aspects. J Dtsch Dermatol Ges. February, 2016; 14(2):123-139.
- Sakiyama T, Kubo A. Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis". J Dermatol. March, 2016; 43(3):264-274.
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