Severe chronic diarrhea and maculopapular rash: a case report.
Systemic mastocytosis (SM) is a heterogeneous disease of the bone marrow characterized by abnormal growth, accumulation and activation of clonal mast cells (MCs). We report a case of SM with multi-organ involvement. A 30-year-old man presented with diarrhea, flushing, maculopapular rash with itching and weight loss. The upper and lower gastrointestinal endoscopies showed macroscopic involvement of stomach and duodenum; mucosal samples from stomach, 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 tomography scan showed diffuse lymphadenopathy, hepatosplenomegaly and diffuse small bowel involvement. Bone marrow aspirate and biopsy were diagnostic for SM; serum tryptase levels were increased (209 ng/mL, normal values < 20 ng/mL). The conclusive diagnosis was smouldering SM. There were no therapeutic indications except for treatment of symptoms. The patient was strictly followed up because of the risk of aggressive evolution.
Gastrointestinal Unit 2, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico and University of Milan, 20121 Milan, Italy.
Alessandra
A
Elvevi
Federica
F
Grifoni
Federica
F
Branchi
Umberto
U
Gianelli
Dario
D
Conte
D000328:Adult; D002908:Chronic Disease; D003967:Diarrhea / Q000209:etiology*; D005076:Exanthema / Q000209:etiology* / Q000473:pathology*; D006801:Humans; D008297:Male; D034721:Mastocytosis, Systemic / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology