Overview
Extracutaneous mastocytoma is a very rare type of tumor made up of mast cells — special immune cells that normally help the body fight infections and heal injuries. Unlike the more common forms of mastocytosis that mainly affect the skin, this tumor grows in tissues outside the skin, such as the lungs, lymph nodes, or other internal organs. It is classified as a form of mastocytosis, a group of conditions where too many mast cells build up in the body. The ICD-10 code for this condition is C96.2, and it is sometimes referred to simply as extracutaneous mastocytoma or non-cutaneous mastocytoma. Because mast cells release powerful chemicals like histamine when they are activated, people with this condition can experience a wide range of symptoms depending on where the tumor is located and how active the mast cells are. Symptoms can include allergic-type reactions, flushing, stomach pain, and in some cases, more serious reactions. The tumor itself may also cause local symptoms depending on which organ it affects. Treatment depends on where the tumor is located and how severe the symptoms are. Options may include surgical removal of the tumor, medications to control mast cell symptoms such as antihistamines, and in some cases, targeted therapies. Because this condition is so rare, treatment is often guided by specialists with experience in mastocytosis and rare blood disorders.
Key symptoms:
Skin flushing or rednessHives or itchingStomach pain or crampingNausea or vomitingDiarrheaLow blood pressureDizziness or lightheadednessRapid heartbeatFatigueSwelling or a lump in the affected areaDifficulty breathing in some casesSevere allergic reactions (anaphylaxis)
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Extracutaneous mastocytoma.
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Specialists
View all specialists →No specialists are currently listed for Extracutaneous mastocytoma.
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 Extracutaneous mastocytoma.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Where exactly is my tumor located, and is it possible to remove it surgically?,Should I be tested for the KIT D816V mutation, and how will the result affect my treatment?,Do I need a bone marrow biopsy to check if this has spread to other parts of my body?,What medications should I take daily to control my symptoms, and what should I do if I have a severe reaction?,Are there any foods, medications, or activities I should avoid to prevent triggering a reaction?,Should I carry an epinephrine auto-injector, and who should I tell about my condition in case of an emergency?,How often do I need follow-up appointments and monitoring scans?
Common questions about Extracutaneous mastocytoma
What is Extracutaneous mastocytoma?
Extracutaneous mastocytoma is a very rare type of tumor made up of mast cells — special immune cells that normally help the body fight infections and heal injuries. Unlike the more common forms of mastocytosis that mainly affect the skin, this tumor grows in tissues outside the skin, such as the lungs, lymph nodes, or other internal organs. It is classified as a form of mastocytosis, a group of conditions where too many mast cells build up in the body. The ICD-10 code for this condition is C96.2, and it is sometimes referred to simply as extracutaneous mastocytoma or non-cutaneous mastocytoma.
How is Extracutaneous mastocytoma inherited?
Extracutaneous mastocytoma follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.