Severe chronic diarrhea and maculopapular rash : a case report

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.