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Disease Profile
Disseminated superficial actinic porokeratosis
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
Adult
ICD-10
Q82.8
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)
DSAP
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry, scaly patches.[1] Symptoms include a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the lower arms and legs).[1][2] DSAP usually starts during the third or fourth decade of life and rarely affects children. Lesions generally are more prominent in the summer and less prominent in the winter. While DSAP is usually not cancerous, squamous cell carcinoma or Bowen’s disease may occasionally develop within patches.[3] DSAP may be
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Porokeratosis | 0200044 | |
30%-79% of people have these symptoms | ||
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] |
0000992 |
5%-29% of people have these symptoms | ||
Pruritus |
Itching
Itchy skin
Skin itching
[ more ] |
0000989 |
Squamous |
0002860 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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Differential diagnoses include (pre)neoplastic or hyperplastic keratotic skin lesions as well as other forms of porokeratosis, such as porokeratosis of Mibelli or superficial disseminated porokeratosis (similar to DSAP but not triggered by sunlight).
Visit the Orphanet disease page for more information.
|
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
-
British Association of Dermatologists
19 Fitzroy Square
London, UK W1T 6EH
United Kingdom
Telephone: 0207 383 0266
Fax: 0207 388 5263
E-mail: admin@bad.org.uk
Website: https://www.bad.org.uk -
Genetic Skin Disease Center
Stanford Medical Dermatology Clinic
Stanford Medicine Outpatient Center
450 Broadway
Pavilion B, 4th Floor
Redwood City, CA 94063
Telephone: 650-723-6316
Fax: 650-725-7711
Website: https://dermatology.stanford.edu/contact/
Social Networking Websites
- Visit the following Facebook groups related to Disseminated superficial actinic porokeratosis:
DSAP Institute Private Forum (Closed Group)
Organizations Providing General Support
-
American Academy of Dermatology
1445 New York Ave, NW
Suite 800
Washington, DC 20005
Toll-free: 888-462-DERM (3376)
Fax: 847-240-1859
E-mail: https://www.aad.org/Forms/ContactUs/Default.aspx
Website: https://www.aad.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
- The British Association of Dermatologists has a patient information leaflet about Disseminated superficial actinic porokeratosis.
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
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.
- 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 Disseminated superficial actinic porokeratosis. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Rouhani P, Fischer M, Meehan S, Keltz Pomeranz M. Disseminated superficial actinic porokeratosis. Dermatology Online Journal. December 2012;18(12):24.
References
- Disseminated superficial actinic porokeratosis. DermNet NZ. April, 2017; https://www.dermnetnz.org/topics/disseminated-superficial-actinic-porokeratosis/.
- Kanitakis J. Disseminated superficial actinic porokeratosis. Orphanet. October, 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152.
- Isabelle Touitou et. al. The expanding spectrum of rare monogenic autoinflammatory diseases. Orphanet Journal of Rare Diseases. 2013; 8:162:https://www.ojrd.com/content/8/1/162.
- Linda V Spencer. Porokeratosis. Medscape. August 7, 2017; https://emedicine.medscape.com/article/1059123-overview.
- Atzmony L, Lim YH, Hamilton C, Leventhal JS, Wagner A et al. Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy. J Am Acad Dermatol. Jan 2020; 82(1):123-131. https://pubmed.ncbi.nlm.nih.gov/31449901.