[A case of systemic mastocytosis]

Area of Science:

• Hematology
• Oncology

Background:

• Systemic mastocytosis (SM) is a rare myeloproliferative neoplasm characterized by abnormal mast cell accumulation in various organs.
• Cutaneous involvement is a hallmark of SM, but extranoticeable forms, particularly those without skin infiltration, are exceptionally rare and diagnostically challenging.

Observation:

• The presented case involved a patient experiencing recurrent episodes of facial and upper trunk flushing as the primary symptom.
• The condition followed a prolonged, seemingly benign course before accelerating into a malignant phase.
• Diagnostic confirmation was achieved via bone marrow and liver biopsies, revealing atypical mast cells exhibiting metachromasia and esterase activity.

Findings:

• Atypical mast cells were identified through specific histochemical staining, including toluidine blue (metachromasia) and naphthol-AS-D chloroacetate esterase.
• Symptomatic treatment with sodium cromoglycate provided temporary relief from flushing episodes.
• Cytostatic therapy failed to halt the progression of mast cell proliferation.

Implications:

• This case highlights the importance of considering systemic mastocytosis even in the absence of skin lesions, especially when flushing is a prominent symptom.
• The diagnostic challenges and therapeutic limitations underscore the need for further research into rare variants of systemic mastocytosis.
• Early recognition and accurate diagnosis are crucial for managing the malignant acceleration of the disease and improving patient outcomes.