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Mastocytosis

Mastocytosis is a group of rare disorders of both children and adults caused by the presence of too many mast cells (mastocytes) in a person's body. more...

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Medicines

Pathophysiology

Mast cells are located in connective tissue, including the skin, the linings of the stomach and intestine, and other sites. They may play an important role in helping defend these tissues from disease. By releasing chemical "alarms" such as histamine, mast cells attract other key players of the immune defense system to areas of the body where they are needed.

Mast cells seem to have other roles as well. Because they gather together around wounds, mast cells may play a part in wound healing. For example, the typical itching you feel around a healing scab may be caused by histamine released by mast cells. Researchers also think mast cells may have a role in the growth of blood vessels (angiogenesis). No one with too few or no mast cells has been found, which indicates to some scientists that we may not be able to survive with too few mast cells.

Mast cells express a cell surface receptor termed c-kit (CD117), which is the receptor for scf (stem cell factor). In laboratory studies, scf appears to be important for the proliferation of mast cells, and inhibiting the tyrosine kinase receptor with imatinib (see below) may reduce the symptoms of mastocytosis.

History

Scientists first described urticaria pigmentosa in 1869. Systemic mastocytosis was first reported by scientists in 1936.

Symptoms

Chemicals released by mast cells cause changes in the immune system leading to typical allergy symptoms such as:

  • itching
  • abdominal cramping
  • and even anaphylaxis (shock from allergic or immune causes)

When too many mast cells exist in a person's body, the additional chemicals can cause:

  • Skin lesions
  • Abdominal discomfort
  • Diarrhea
  • Stomach ulcers
  • Episodes of very low blood pressure (including shock) and faintness
  • bone or muscle pain
  • Nausea and vomiting

Diagnosis

Doctors can diagnose urticaria pigmentosa (cutaneous mastocytosis, see below) by seeing the characteristic lesions which are dark-brown and fixed. A small skin sample (biopsy) may help confirm the diagnosis.

By taking a biopsy from a different organ, such as the bone marrow, the doctor can diagnose systemic mastocytosis. Using special techniques on a bone marrow sample, the doctor looks for an increase in mast cells. Another sign of this disorder is high levels of certain mast-cell chemicals and proteins in a person's blood and sometimes in the urine.

Read more at Wikipedia.org


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Mastocytosis: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References $39.41 Generalised yellowish papular eruption in a child.(quiz) : An article from: Indian Journal of Dermatology, Venereology and Leprology $5.95
Gale Encyclopedia of Medicine : Mastocytosis $1.50 Mastocytosis $20.98
Unmasking mastocytosis. : An article from: Dermatology Nursing $5.95 Molecular Basis of Chronic Myeloproliferative Disorders $118.42
Cutaneous and systemic mastocytosis in adults: A clinical, histopathological and immunological evaluation in relation to histamine metabolism (Acta dermato-venereologica) Mastocytosis and the mast cell,

Mastocytosis
Mastocytosis is a disease characterized by the presence of too many mast cells in various organs and tissues.
Cause and natural course of pediatric-onset mastocytosis
This study is currently recruiting patients. Sponsored by National Institute of Allergy and Infectious Diseases (NIAID). This study will evaluate children ...
Therapy of hypereosinophilic syndrome, polycythemia vera, atypical CML or CMML with PDGF-R fusion genes, or mastocytosis with Gleevec
This study is currently recruiting patients. Sponsored by M.D. Anderson Cancer Center. The goal of this clinical research study is to see if Gleevec[R], ...
Cutaneous and Systemic Manifestations of Mastocytosis
Maine-Dartmouth Family Practice Residency, Fairfield, Maine Mastocytosis is characterized by an excessive number of apparently normal mast cells in ...
Mastocytosis: What It Is and How It's Diagnosed and Treated
What is mastocytosis? Mastocytosis (say "mas-toe-sigh-toe-sis") is a rare disease of the skin (the most common form), or of other parts of the body ...
Bone density, bone markers and bone radiological features in mastocytosis
We examined the association between severity of disease in mastocytosis and skeletal manifestations and bone markers in 16 patients varying in extent of ...
Bone marrow mastocytosis associated with an undifferentiated extramedullary tumor of hemopoietic origin
The case of a 62-year-old man who presented with acute abdominal pain and a widespread tumor involving the retroperitoneum is described. Three weeks after ...
A 40-year-old man with chronic generalized rash
A 40-year-old man presented with a 15-year history of recurrent generalized papules and macules. On examination, the physician noted multiple brown-red ...

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