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Severe chronic diarrhea and maculopapular rash: a case report
Alessandra Elvevi1, Federica Grifoni, Federica Branchi
1Gastrointestinal Unit 2, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico and University of Milan, 20121 Milan, Italy.
World Journal of Gastroenterology
|October 26, 2011
Summary
Systemic mastocytosis (SM) is a bone marrow disease involving abnormal mast cells. This case highlights multi-organ involvement in a 30-year-old male, diagnosed with smouldering SM.
Area of Science:
- Hematology
- Oncology
- Gastroenterology
Background:
- Systemic mastocytosis (SM) is a rare clonal myeloid neoplasm.
- It is characterized by the abnormal proliferation and accumulation of mast cells (MCs) in various organs.
Observation:
- A 30-year-old male presented with gastrointestinal symptoms, rash, and weight loss.
- Endoscopic and biopsy findings revealed extensive MC infiltration in the gastrointestinal tract.
- CT scan demonstrated lymphadenopathy and hepatosplenomegaly, indicating multi-organ involvement.
Findings:
- Bone marrow biopsy confirmed SM.
- Elevated serum tryptase levels (209 ng/mL) supported the diagnosis.
- The patient was diagnosed with smouldering SM, a less aggressive form.
Implications:
- This case underscores the importance of recognizing SM in patients with unexplained systemic symptoms.
- Early diagnosis and monitoring are crucial due to the risk of aggressive disease transformation.
- Further research into the multi-organ manifestations of SM is warranted.
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