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Disease Profile
Telangiectasia macularis eruptive perstans
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)
Telangiectasia macularis eruptiva perstans; Paucicellular mastocytosis; Telangiectatic cutaneous mastocytosis
Summary
Telangiectasia macularis eruptive perstans (TMEP) is a very rare skin disease. Some researchers consider it a rare subtype of cutaneous mastocytosis. The lesions of TMEP typically appear as small, irregular red spots and brown widened blood vessels on the skin (telangiectasia) mostly located on the trunk, legs, and arms in a symmetrical pattern. The palms, soles and face are spared in most cases. In most cases, the lesions are not itchy and do not form blisters. Rarely, there are other symptoms in other parts of the body. Diagnosis is usually based on the features, and confirmed by a skin
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 | ||
| Cutaneous mastocytosis | 0200151 | |
| Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
| Papule | 0200034 | |
| Pruritus |
Itching
Itchy skin
Skin itching
[ more ] |
0000989 |
| Skin plaque | 0200035 | |
| 30%-79% of people have these symptoms | ||
| Cardiac arrest |
Heart stops beating
|
0001695 |
| Diarrhea |
Watery stool
|
0002014 |
| Dyspnea |
Trouble breathing
|
0002094 |
| Headache |
Headaches
|
0002315 |
| Nausea and vomiting | 0002017 | |
| Rhinitis |
Nasal inflammation
|
0012384 |
| 5%-29% of people have these symptoms | ||
| Skin nodule | 0200036 | |
| Telangiectasia of the skin | 0100585 | |
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.
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Conditions with similar signs and symptoms from Orphanet
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The diagnosis is usually straightforward but misdiagnosis as chronic urticaria or idiopathic anaphylaxis has been reported.
Visit the Orphanet disease page for more information.
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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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The Mast Cell Disease Society
P.O. Box 416
Sterling, MA 01564
E-mail: info@tmsforacure.org
Website: https://tmsforacure.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.
References
- Castells MC and Akin C. Mastocytosis (cutaneous and systemic): Epidemiology, pathogenesis, and clinical manifestations. UpToDate. December 5, 2016; https://www.uptodate.com/contents/mastocytosis-cutaneous-and-systemic-epidemiology-pathogenesis-and-clinical-manifestations.
- Watkins CE, Bokor WB, Leicht S, Youngberg G & Krishnaswamy G. Telangiectasia macularis eruptiva perstans: more than skin deep. Dermatology Reports. 2011; 3(1):12. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211494/.