The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of eosinophils||90%|
|Nausea and vomiting||90%|
|Abnormal blistering of the skin||50%|
|Impaired temperature sensation||50%|
|Increased bone mineral density||50%|
|Reduced bone mineral density||50%|
|Sudden cardiac death||50%|
|Abnormality of the gastric mucosa||7.5%|
|Bone marrow hypocellularity||7.5%|
|Telangiectasia of the skin||7.5%|
|Autosomal dominant inheritance||-|
|Telangiectasia macularis eruptiva perstans||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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My 22 year old son was diagnosed with urticaria pigmentosa in infancy and except for skin spots he is largely symptom-free. Because of increasing skin spots and elevated serum tryptase, he had bone marrow tests and was diagnosed with indolent systemic mastocytosis (ISM). He does not have other health problems and is very active. Will his symptoms worsen systemically with time or is it possible for ISM patients to remain symptom-free for life? See answer
My mother is suffering from systemic mastocytosis. What types of treatment are available for this condition? See answer
I need information on the initial tests that can be done to rule out systemic mastocytosis. What are they and should they be done after an episode or can they be done at any time? See answer
Can heat and/or humidity affect systemic mastocytosis? See answer