Mastocytosis
Basics
Mastocytosis is a rare, heterogeneous group of disorders caused by the abnormal clonal proliferation and accumulation of atypical mast cells in one or more organs of the body, most often affecting the skin.
Description
- Two clinical diagnostic categories: cutaneous mastocytosis (CM) or systemic mastocytosis (SM)
- CM only is the most common form, whereas SM constitutes only 10–15% of all the cases.
- CM consistency primarily of skin involvement with characteristic lesions, urticaria pigmentosa (UP)
- Symptoms of mastocytosis are from mast cell degranulation and release of chemical mediators, such as histamine, leukotrienes, and prostaglandins.
- In adults, mastocytosis often is secondary to a gain-of-function point mutation in the proto-oncogene c-kit (D816V in >95% of cases) leading to clonal proliferation of mast cells.
- Childhood mastocytosis is associated with c-kit, D816V in only 40% of cases; majority of cases are limited to the skin and have excellent prognosis with spontaneous resolution around puberty.
Epidemiology
- Incidence and prevalence will vary because many cases remain undiagnosed.
- Prevalence estimated 1 in 60,000 people.
- Incidence 0.1 to 1/100,000 people per year in United States
- ~2/3 of reported CM cases are found in children, most diagnosed before the age of 2 years.
- Adults more likely to have systemic disease and onset between 20 and 50 years with diagnosis at 40 to 60 years
- Prevalence equal in males and females
Etiology and Pathophysiology
Genetics
The disease is congenital in 15–25% of cases.
- Gain-of-function point mutations in c-kit, in particular D816V
- C-kit (KIT) is a proto-oncogene that encodes for a tyrosine kinase receptor (CD117 transmembrane receptor) located on many hematopoietic stem cells, including mast cells.
- Normally, stem cell factor (SCF) binds to CD117 leading to mast cell growth, migration, survival.
- Autophosphorylation of tyrosine residues in the presence of gain-of-function c-kit mutations leads to unregulated proliferation of mast cells.
- Mutations in other genes may also be pathogenic in some cases.
- There is no known genetic transmission.
Risk Factors
Age; c-kit–activating mutations
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Citation
Domino, Frank J., et al., editors. "Mastocytosis." 5-Minute Clinical Consult, 33rd ed., Wolters Kluwer, 2025. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816314/1.0/Mastocytosis.
Mastocytosis. In: Domino FJF, Baldor RAR, Golding JJ, et al, eds. 5-Minute Clinical Consult. Wolters Kluwer; 2025. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816314/1.0/Mastocytosis. Accessed December 3, 2024.
Mastocytosis. (2025). In Domino, F. J., Baldor, R. A., Golding, J., & Stephens, M. B. (Eds.), 5-Minute Clinical Consult (33rd ed.). Wolters Kluwer. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816314/1.0/Mastocytosis
Mastocytosis [Internet]. In: Domino FJF, Baldor RAR, Golding JJ, Stephens MBM, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2025. [cited 2024 December 03]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816314/1.0/Mastocytosis.
* Article titles in AMA citation format should be in sentence-case
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