Mastocytosis is a disorder of excessive mast cell proliferation, which is now classified as a myeloproliferative neoplasm 6. Two clinical entities fall under the mastocytosis umbrella : cutaneous (urticaria pigmentosa) and systemic mastocytosis (with or without cutaneous manifestations). The article deals primarily with the latter.
Mast cells are bone marrow derived cells that are widely distributed in tissues. They store various biologically active mediators, such as heparin and histamine. Mediator release from mast cells has a central role in the development of type 1 hypersensitivity 1.
In systemic mastocytosis, abnormal proliferation and microscopic infiltration of mast cells involves skin, bone marrow, gastrointestinal tract, liver and spleen. It is thought that the effects of mastocytosis relate at least in part to mediator release 7.
There is considerable heterogeneity in the presentation of mastocytosis, and in the rate of disease progression. Clinical features include:
- cutaneous manifestations
- hypotension and syncope
- abdominal pain
- nausea, vomiting and diarrhoea
- bone pain and pathological fractures
- associated haematological disorders 7
Are best addressed according to system rather than modality. Most features are not specific to the disease but may suggest the diagnosis in the correct clinical setting.
Bone involvement in mastocytosis can be either lytic, sclerotic or mixed process. Diffuse involvement tends to be more common11. Usually, the radiographic appearance is that of sclerosis involving primarily axial skeleton and the ends of long bones. In some patients there is generalised osteoporosis with risk of pathological fractures.
- peptic ulceration
- diffuse small bowel thickening
- omental and mesenteric thickening 9
Pulmonary (rare) 2,8
- pulmonary nodules
- 1. Robbins SL, Kumar V, Abbas AK et-al. Robbins and Cotran pathologic basis of disease. W.B. Saunders Company. (2010) ISBN:1416031219. Read it at Google Books - Find it at Amazon
- 2. Weissleder R, Wittenberg J, Harisinghani MG. Primer of diagnostic imaging. Mosby Inc. (2003) ISBN:0323023282. Read it at Google Books - Find it at Amazon
- 3. Zettinig G, Becherer A, Szabo M et-al. FDG positron emission tomography in patients with systemic mastocytosis. AJR Am J Roentgenol. 2002;179 (5): 1235-7. AJR Am J Roentgenol (full text) - Pubmed citation
- 4. Delsignore JL, Dvoretsky PM, Hicks DG et-al. Mastocytosis presenting as a skeletal disorder. Iowa Orthop J. 1996;16 : 126-34. - Free text at pubmed - Pubmed citation
- 5. Johansson C, Roupe G, Lindstedt G et-al. Bone density, bone markers and bone radiological features in mastocytosis. Age Ageing. 1996;25 (1): 1-7. doi:10.1093/ageing/25.1.1 - Pubmed citation
- 6. Vardiman JW, Thiele J, Arber DA et-al. The 2008 revision of the World Health 6. Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114 (5): 937-51. doi:10.1182/blood-2009-03-209262 - Pubmed citation
- 7. Metcalfe DD. Classification and diagnosis of mastocytosis: current status. J. Invest. Dermatol. 1991;96 (3 Suppl): 2S-4S. doi:10.1111/1523-1747.ep12468882 - Pubmed citation
- 8. Kelly AM, Kazerooni EA. HRCT appearance of systemic mastocytosis involving the lungs. J Thorac Imaging. 2004;19 (1): 52-5. J Thorac Imaging (link) - Pubmed citation
- 9. Nguyen BD. CT and scintigraphy of aggressive lymphadenopathic mastocytosis. AJR Am J Roentgenol. 2002;178 (3): 769-70. AJR Am J Roentgenol (full text) - Pubmed citation
- 10. Avila NA, Ling A, Worobec AS et-al. Systemic mastocytosis: CT and US features of abdominal manifestations. Radiology. 1997;202 (2): 367-72. Radiology (abstract) - Pubmed citation
- 11. Avila NA, Worobec AS, Ling A et-al. Pulmonary and ovarian manifestations of systemic mastocytosis. AJR Am J Roentgenol. 1996;166 (4): 969-70. AJR Am J Roentgenol (citation) - Pubmed citation
Synonyms & Alternative Spellings
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