Maculopapular cutaneous mastocytosis

Title

Not a rare disease

Other Names:

Urticaria pigmentosa

This disease is grouped under:

Cutaneous mastocytosis

Summary 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]

Last updated: 9/22/2015

Symptoms 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.

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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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Cause 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]

Last updated: 9/24/2015

Treatment 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.

Last updated: 9/24/2015

Prognosis Prognosis

The prognosis for children with maculopapular cutaneous mastocytosis is good. Up to 50% of cases improve and 30% of cases resolve completely by adolescence.^[3]^[2]

Last updated: 9/24/2015

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.
The Mast Cell Disease Society has a listing of Medical Research Centers that specialize in mastocytosis. Click on the link to view this list which includes centers in the United States and Europe.
The Mast Cell Disease Society maintains a Physician Database where you can search for physicians that specialize in Maculopapular cutaneous mastocytosis.

Research Research

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.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Maculopapular cutaneous mastocytosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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

The Mast Cell Disease Society
P.O. Box 416
Sterling, MA 01564
E-mail: info@tmsforacure.org
Website: https://tmsforacure.org/

Do you know of an organization? We want to hear from you.

Learn More 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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What causes maculopapular cutaneous mastocytosis? Can it be treated? Can it be cured? See answer

Have a question? Contact a GARD Information Specialist.

References References

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