Overview
Cutaneous mastocytosis (also called skin mastocytosis) is a condition where too many mast cells — a type of immune cell — build up in the skin. Mast cells normally help protect the body from infections and allergies, but when there are too many of them, they can release chemicals that cause a wide range of symptoms. The most common form in children is called urticaria pigmentosa, which causes brownish or reddish spots on the skin that itch and swell when rubbed or scratched. Other forms include a single skin lesion called a mastocytoma, and a more widespread form called diffuse cutaneous mastocytosis. The condition mainly affects the skin, causing itching, hives, blistering, and flushing. In some cases, the chemicals released by mast cells can affect other parts of the body, causing stomach pain, diarrhea, low blood pressure, or even a severe allergic reaction called anaphylaxis. Triggers like heat, friction, certain foods, insect stings, or medications can make symptoms flare up. Cutaneous mastocytosis is most often diagnosed in young children and tends to improve or even go away on its own by puberty in many cases. Adults can also develop the condition, though it is less likely to resolve on its own in adults. Treatment focuses on managing symptoms and avoiding triggers. Antihistamines are the main treatment, and other medications are available for more severe symptoms. The outlook for most children with this condition is very good.
Key symptoms:
Brownish or reddish spots or patches on the skinItching, especially after rubbing or scratching the skinSkin that swells or forms a hive when rubbed (called Darier's sign)Blistering or fluid-filled bumps on the skin, especially in young childrenFlushing or redness of the skinHives (urticaria)Stomach pain or crampingDiarrhea or nauseaHeadachesLow blood pressure or dizzinessRapid heartbeatSevere allergic reaction (anaphylaxis) in some casesBone pain (less common)
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsFondazione IRCCS Policlinico San Matteo di Pavia
Gastrocrom: FDA approved
Cutaneous mastocytosis
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableGastrocrom
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Cutaneous mastocytosis.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type of cutaneous mastocytosis does my child or I have, and what does that mean for the future?,Should I or my child carry an epinephrine auto-injector, and when should it be used?,What are my specific triggers, and how can I best avoid them?,Is genetic testing recommended, and what would the results tell us?,How often should we have follow-up appointments, and what signs should prompt an earlier visit?,Is there a risk that this condition will spread to other organs, and how would we know?,Are there any clinical trials or new treatments I should know about?
Common questions about Cutaneous mastocytosis
What is Cutaneous mastocytosis?
Cutaneous mastocytosis (also called skin mastocytosis) is a condition where too many mast cells — a type of immune cell — build up in the skin. Mast cells normally help protect the body from infections and allergies, but when there are too many of them, they can release chemicals that cause a wide range of symptoms. The most common form in children is called urticaria pigmentosa, which causes brownish or reddish spots on the skin that itch and swell when rubbed or scratched. Other forms include a single skin lesion called a mastocytoma, and a more widespread form called diffuse cutaneous masto
Are there clinical trials for Cutaneous mastocytosis?
Yes — 1 recruiting clinical trial is currently listed for Cutaneous mastocytosis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Cutaneous mastocytosis?
25 specialists and care centers treating Cutaneous mastocytosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Cutaneous mastocytosis?
1 patient support program are currently tracked on UniteRare for Cutaneous mastocytosis. See the treatments and support programs sections for copay assistance, eligibility, and contact details.