Severe chronic diarrhea and maculopapular rash: A case report

Alessandra Elvevi, Federica Branchi, Federica Grifoni, Dario Conte, Umberto Gianelli

Research output: Contribution to journalArticlepeer-review

Abstract

Systemicmastocytosis (SM) is a heterogeneous disease of the bone marrow characterized by abnormal growth,accumulation and activation ofclonal mastcells (MCs). We reporta case of SM with multi-organ involvement. A 30-year-old man presented with diarrhea, flushing, maculopapular rashwithitching and weightloss. The upper and lower gastrointestinal endoscopies showed macro scopic involvement of stomac hand duodenum; mucosal samples fromstomach, duodenum, colon and distal ileum showed mucosal infiltration by large, spindle-shaped MCs with abnormal surface molecule expression (CD2 and CD25), a picture fully consistent with SM, according to the World Health Organization diagnostic criteria. A computed to mography scan showed diffuse lymphadenopathy, hepatosplenomegaly and diffuse small bowel involvement. Bone marrow aspirate and biopsy were diagnosticfor SM; serumtryptase levels were increased (209 ng/mL, normal values <20 ng/mL). The conclusive diagnosis was smouldering SM. There were no therapeuticindications except for treatment of symptoms. The patient was strictly followed up because of the risk of aggressive evolution.

Original languageEnglish
Pages (from-to)3948-3952
Number of pages5
JournalWorld Journal of Gastroenterology
Volume17
Issue number34
DOIs
Publication statusPublished - Sep 14 2011

Keywords

  • Bone marrow
  • Mastcells
  • Systemicmastocytosis
  • Tryptase

ASJC Scopus subject areas

  • Gastroenterology

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