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Disease Profile

Punctate porokeratosis

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

#N/A

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)

PPPP; Porokeratosis punctata palmaris et plantaris

Summary

Punctate porokeratosis is a skin condition that appears in adulthood as many, tiny, ridgelike bumps on the palms of the hands and soles of the feet. These bumps may slowly spread over the skin and usually do not cause symptoms, though they sometimes cause itching or discomfort while walking. Individuals with this condition often develop other types of porokeratosis as well. The cause of punctate porokeratosis is unknown, though genetic factors, a weakened immune system (immunodeficiency), or previous injury to the skin (for example, a burn) have been suggested as possible risk factors. Treatment depends on the size, location, and aggressiveness of porokeratosis in each affected individual; it may include observation only, medication, or surgery.[1]

Symptoms

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
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Porokeratosis
0200044
Spinous keratoses of palms and soles
0007613

Treatment

Treatment depends on the size, location, and aggressiveness of punctate porokeratosis. Affected individuals are recommended to visit their personal physician regularly to watch for signs of skin cancer, limit sun exposure to the affected area, and use moisturizers as needed.[2] 5-fluorouracil cream has been found to be an effective treatment. A group of medications called retinoids (including acitretin and isotretinoin), as a pill or cream, may be another treatment option.[2] If a skin cancer develops from porokeratosis, surgery is recommended.[1]

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.

In-Depth Information

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

References

  1. Spencer LV . Porokeratosis. Medscape Reference. May 30, 2012; https://emedicine.medscape.com/article/1059123-overview#a0101. Accessed 8/21/2012.
  2. Sertznig P, von Felbert V, Megahed M. Porokeratosis: present concepts. Journal of the Academy of Dermatology and Venereology. 2012; 26:404-412. https://www.ncbi.nlm.nih.gov/pubmed/21929548. Accessed 8/16/2012.

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