Diagnosis and Management of Mastocytosis

Diagnostic Criteria

The National Comprehensive Cancer Network recommends a combination of histopathologic, clinical, laboratory, and cytogenetic/molecular analyses for the diagnosis of mastocytosis, based on the 2017 WHO Criteria Classification 1, 2
Initial evaluation should include assessment for mast cell activation symptoms, examination for skin lesions, and serum tryptase level measurement, as suggested by the National Comprehensive Cancer Network 1, 3
Diagnosis requires a high index of suspicion in patients with new onset skin lesions with or without mast cell mediator-related symptoms, according to the American Journal of Clinical Dermatology 4
Darier's sign (urticaria development after stroking lesions) is positive in approximately 89% of patients with cutaneous mastocytosis, as reported by the American Journal of Clinical Dermatology 5

Complete history and physical examination focusing on mast cell activation symptoms, potential triggers, skin examination, and organomegaly assessment are recommended by the National Comprehensive Cancer Network 6, 7
Laboratory studies, including serum tryptase level, complete blood count with differential, comprehensive metabolic panel, and examination of blood smear, are suggested by the National Comprehensive Cancer Network 1, 3, 6

The American Journal of Clinical Dermatology recommends treatment goals that include suppressing mast cell mediator-related symptoms and, in advanced cases, reducing mast cell burden 4
Management requires a multidisciplinary team approach, as recommended by the National Comprehensive Cancer Network 2
Referral to centers with expertise in mastocytosis is strongly recommended by the National Comprehensive Cancer Network 1, 2

For cutaneous mastocytosis, the American Journal of Clinical Dermatology suggests focusing on symptom control and avoidance of triggers 4
Education of patients/parents and care providers about the disease and potential triggers is recommended by the American Journal of Clinical Dermatology 4
Most pediatric cases improve or resolve spontaneously, as reported by the American Journal of Clinical Dermatology 4

Serum tryptase levels may be normal or only transiently elevated in some patients, as noted by the National Comprehensive Cancer Network 3
Regular follow-up (every 6-12 months) is recommended for patients with cutaneous mastocytosis by the American Journal of Clinical Dermatology 4
Patients should be counseled about potential triggers of mast cell activation and provided with emergency management plans, as suggested by the National Comprehensive Cancer Network 3