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Mast Cell Disease

Diagnosis
Patients with mast cell disease may present with cutaneous lesions and/or acute or chronic systemic complaints.1 Cutaneous lesions that may be associated with this disorder include:
  • Macules, papules, nodules, and plaques
  • Blisters and bullae in children
  • Diffuse induration
  • Isolated nodule or tumor
Distribution of these lesions is typically widespread and symmetric, with greater involvement of the trunk than the extremities. The face, scalp, palms, and soles are usually not affected. Flushing may be present.

The potential systemic manifestations of mast cell disease are many. Hepatomegaly and splenomegaly are present in 40% and 50% of adults with systemic mastocytosis, respectively.1

Potential Signs and Symptoms of Systemic Mastocytosis1
  • Abdominal pain

  • Inflammation of the esophagus

  • Anaphylaxis

  • Intestinal cramping and bloating

  • Blood pressure changes and shock

  • Liver, spleen, and other organ involvement

  • Bone pain (mild to severe/debilitating)

  • Malabsorption

  • Chest pain

  • Migraine headaches

  • Cognitive difficulties/brain fog

  • Muscle pain
  • Degenerative disc disease

  • Nausea

  • Diarrhea

  • Osteoporosis/osteopenia

  • Dizziness/vertigo/
    lightheadedness

  • Peripheral neuropathy and paresthesias

  • Faintness

  • Rapid heart rate

  • Fatigue

  • Vomiting

  • Gastroesophageal reflux

Diagnostic criteria for mastocytosis, as published by The Mastocytosis Society (TMS), are as follows:2

Diagnostic Criteria for Mastocytosis of the Skin2
  1. Typical skin lesions, such as urticaria pigmentosa, diffuse cutaneous mastocytosis, or mastocytoma
  2. Positive biopsy of affected skin, with typical infiltrates of mast cells in a diagnostic pattern.
Diagnostic Criteria for Systemic Mast Cell Disease2

The presence of 1 major and 1 minor criterion or 3 minor criteria constitute the diagnosis of systemic mastocytosis.

Major criterion
    Biopsy finding of multiple dense accumulations of mast cells in bone marrow or in other non-skin tissue.
Minor criteria
  1. In bone marrow biopsy, >25% of the mast cells are spindle-shaped (elongated) or in bone marrow smears, >25% of the mast cells are atypical mast cells.
  2. Detection of a point mutation at codon 816 in the kit receptor gene in the blood, bone marrow, or other internal organ.
  3. Mast cells in blood, bone marrow, or other internal organs are found to have on their surface the kit receptor gene plus molecules called CD2 and/or CD25.
  4. Serum total tryptase level persistently >20 ng/ml. This criterion cannot be used if the patient has a clonal non-mast cell associated hematologic disorder.



 References:
  1. Hogan D. Mastocytosis. Available at: http://www.emedicine.com/derm/topic258.htm. Accessed April 23, 2006.
  2. The Mastocytosis Society. A Consensus Document. Available at: http://tmsforacure.org/research/consensus.shtml. Accessed: April 24, 2006.
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