Mastocytosis
Mastocytosis is a group of rare disorders in which mast cells build up abnormally and multiply excessively in one or more organs. When these cells are triggered, they release large amounts of chemical mediators such as histamine, heparin and leukotrienes, causing serious allergic-type reactions and damage to target tissues.
At Haute-Derma, we manage mastocytosis by combining genetic testing closely with clinical care. Our goals are to control symptoms caused by mediator release, prevent anaphylaxis and treat the skin lesions, improving patients' quality of life.
Our Approach to Treating Mastocytosis
Our specialists at Haute-Derma recognize mastocytosis across its many forms, from skin-only disease to systemic involvement. A priority is distinguishing cutaneous from systemic mastocytosis, using serum tryptase levels and, when needed, a bone marrow biopsy.
We understand that people with mastocytosis often live with the fear of sudden anaphylaxis. At Haute-Derma, we offer comprehensive management, from teaching patients to recognize their triggers to setting up targeted therapies that curb mast cell growth.
Our mastocytosis care pathway includes:
- Serum tryptase measurement and KIT (D816V) mutation testing.
- Control of systemic symptoms with antihistamines and mast cell stabilizers.
- Cosmetic dermatologic treatment of pigmented lesions (urticaria pigmentosa).
How We Diagnose Mastocytosis at Haute-Derma
To pin down the type of disease and how far mast cells have infiltrated, Haute-Derma follows a standard diagnostic process:
- Urticaria pigmentosa: Red-brown papules or patches that swell and redden when scratched or rubbed (positive Darier sign).
- Mastocytoma: Usually a single firm, yellow-orange or brown nodule in children.
- Screening for systemic symptoms: We check for flushing, diarrhea, abdominal pain, low blood pressure and bone pain.
- Specialized blood tests: Tryptase levels, a key marker that reflects the body's total mast cell load.
- Histopathology: A skin biopsy looks for dense clusters of mast cells around blood vessels and skin appendages, highlighted with toluidine blue or CD117 staining.
- Genetic screening: c-KIT mutation testing helps predict whether the disease is likely to progress.
How Mastocytosis Is Treated at Haute-Derma
Our treatment plan aims to reduce mast cell activation and treat the skin lesions:
- Avoiding triggers: We help patients steer clear of sudden temperature changes, friction or pressure, stress, alcohol and certain drugs (such as aspirin or contrast agents).
- H1 and H2 antihistamines: Used at high doses to control itching, flushing and digestive symptoms.
- Mast cell stabilizers (cromolyn sodium): Help prevent the release of mediator granules and work particularly well for gut symptoms.
- Pulsed dye laser: At Haute-Derma, we use laser treatment to fade red-brown pigmented spots, noticeably improving the skin's appearance.
- Tyrosine kinase inhibitors (midostaurin): Reserved for advanced systemic mastocytosis, to directly inhibit the growth of mast cells carrying the mutation.
