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Disease Profile

Maculopapular cutaneous mastocytosis

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

#N/A

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)

Urticaria pigmentosa

Summary

Maculopapular cutaneous mastocytosis (also known as urticaria pigmentosa) is a common form of cutaneous mastocytosis characterized by brown patches or freckles on the skin that result from an abnormal collection of mast cells.[1][2] The skin may be very itchy and rubbing may lead to hive-like bumps or fluid-filled blisters.[3] The condition is most common in children, but adults can also be affected.[1][2][3] Treatment may include antihistamines, topical steroids, and/or phototherapy. Over time, the mastocytosis in younger patients usually becomes less itchy and the skin patches tend to improve. In adults, systemic mastocytosis may develop.[3]

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
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Edema
Fluid retention
Water retention

[ more ]

0000969
Erythema
0010783
Telangiectasia macularis eruptiva perstans
0007583
Urticaria
Hives
0001025

Cause

Maculopapular cutaneous mastocytosis occurs when there are too many inflammatory cells (called mast cells) in the skin.[3] The underlying reason for this excess of mast cells is not fully understood. While most cases appear to be random (occur sporadically for no apparent reason), familial cases have been reported. These familial cases are thought to be inherited in an autosomal dominant manner and may be caused by mutations in the KIT gene.[2][4]

Treatment

Maculopapular cutaneous mastocytosis is generally not serious and many cases do not require treatment. For those cases that do, oral antihistamines, topical steroids, and a photochemotherapy called PUVA may be used.[1] These treatments are aimed at reducing the symptoms of the condition and making patients more comfortable.

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

    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.
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The Merck Manual provides information on this condition for patients and caregivers.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
    • The Mast Cell Disease Society has developed a Pediatric Mastocytosis Fact Sheet which includes information about maculopapular cutaneous mastocytosis.
    • The Mast Cell Disease Society provides information about mast cell diseases, including Maculopapular cutaneous mastocytosis.

      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. 
      • 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 Maculopapular cutaneous mastocytosis. Click on the link to view a sample search on this topic.

        References

        1. Yung A. Maculopapular cutaneous mastocytosis. DermNet NZ. March 2014; https://www.dermnetnz.org/colour/urticaria-pigmentosa.html. Accessed 9/22/2015.
        2. Oranje A. Maculopapular cutaneous mastocytosis. Orphanet. June 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79457. Accessed 9/22/2015.
        3. Moskowitz RJ, Zieve D. Urticaria pigmentosa. MedlinePlus. November 20, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/001466.htm. Accessed 9/22/2015.
        4. Urticaria Pigmentosa. National Organization for Rare Disorders (NORD). 2003; https://rarediseases.org/rare-diseases/urticaria-pigmentosa/. Accessed 9/24/2015.

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