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Case Reports
. 2011 Sep 14;17(34):3948-52.
doi: 10.3748/wjg.v17.i34.3948.

Severe chronic diarrhea and maculopapular rash: a case report

Alessandra Elvevi  1 , Federica Grifoni, Federica Branchi, Umberto Gianelli, Dario Conte
Affiliations
Case Reports

Severe chronic diarrhea and maculopapular rash: a case report

Alessandra Elvevi et al. World J Gastroenterol. .

Abstract

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.

Keywords: Bone marrow; Mast cells; Systemic mastocytosis; Tryptase.

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Figures

Figure 1
Figure 1
Maculopapular rash (“urticaria pigmentosa”) in a systemic mastocytosis patient.
Figure 2
Figure 2
Abdominal ultrasound. A: Small bowel dilatation and wall edema at ultrasonography (US). B: Abdominal lymphadenopathy at US (crosses refer to lymph node enlargement, 5 cm).
Figure 3
Figure 3
Colon biopsy in a systemic mastocytosis patient. A: Diffuse mast cell (MC) infiltrate (Hematoxylin-eosin, × 10); B: The dense infiltrate is represented by MCs, whose detection is increased by positive immunohistochemical marker CD117; C: The dense infiltrate is represented by MCs, whose detection is increased by positive immunohistochemical marker CD25.
Figure 4
Figure 4
Bone marrow biopsy in a systemic mastocytosis patient. A: Diffuse mast cell (MC) infiltrate (Hematoxylin-eosin, × 10); B: The dense infiltrate is represented by MCs, whose detection is increased by positive immunohistochemical marker CD117; C: The dense infiltrate is represented by MCs, whose detection is increased by positive immunohistochemical marker CD25.
See this image and copyright information in PMC

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