Mastocytosis is associated with an abnormal accumulation of mast cells in the skin and at various systemic sites, which, because of pharmacologically active substances, is manifested clinically by local cutaneous and systemic symptoms. A consensus-based classification that divides mastocytosis into four categories.

Causes of Mastocytosis Syndromes

Mast cells contain several pharmacologically active substances that are associated with the clinical findings in mastocytosis: histamine (urticaria, GI symptoms), prostaglandin D2 (flush, cardiovascular symptoms, GI symptoms), heparin (bleeding into lesion at biopsy site), neutral protease/ acid hydrolases (patchy hepatic fibrosis, bone lesions).

Symptoms of Mastocytosis Syndromes

• Hives & other rashes
• Itching, with and without rashes
• Itching, with and without rashes
• Fatigue
• Peripheral neuropathy and paresthesias
• Osteoporosis
• Muscle pain
• Vomiting

Diagnosis

Clinical suspicion, positive Darier’s sign, confirmed by skin biopsy.

Treatment

Avoidance of drugs that may cause mast cell degranulation and histamine release: alcohol, dextran, polymyxin B, morphine, codeine, scopolamine, D-tubocurarine, nonsteroidal anti­inflammatory agents.

Antihistamines, both H1 and H2, either alone or with ketotifen. Disodium cromoglycate, 200 mg qid, may ameliorate pruritus, flushing, diarrhea, abdominal pain, and disorders of cognitive function. PUVA treatment is effective for skin lesions, but recurrence is common.

References

1. https://my.clevelandclinic.org/health/articles/5908-mastocytosis
2. https://rarediseases.org/rare-diseases/mastocytosis/
3. https://www.sciencedirect.com/science/article/pii/S2213219813003784