Work overview

Section 02 of 08

Case presentation

Diffuse osteosclerosis in a patient with systemic mastocytosis

Huy H Do, Balasubramanian Krishnamurthy, Vivian Grill, Christopher Leow, and Hanh H Nguyen · 2026

Contents

Section 02 of 08

  1. 01Introduction
  2. 02Case presentation
  3. 03Diagnostic assessment
  4. 04Treatment
  5. 05Outcome and follow-up
  6. 06Discussion
  7. 07Learning points
  8. 08Contributors
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Work overview

Section 2 of 8

Case presentation

Huy H Do, Balasubramanian Krishnamurthy, Vivian Grill, Christopher Leow, and Hanh H Nguyen · about 2 minutes

A 31-year-old woman presented with acute-on-chronic abdominal pain, flushing, and watery diarrhea. She had 8 years of diarrheal symptoms which had worsened in the week prior to her presentation. She denied any significant weight loss. Her medical history was significant for polyendocrine metabolic ovarian syndrome, bipolar affective disorder (on lithium), and hidradenitis suppurativa.

Physical examination revealed a generally tender abdomen, no skin rashes, organomegaly or lymphadenopathy. Initial biochemistry revealed significantly raised inflammatory markers, with a total white cell count of 32.6 × 103/μL (SI: 32.6 × 109/L) (reference range, 4-11 × 103/μL [SI: 4-11 × 109/L]) comprising mainly neutrophilia [23.8 × 103/μL (SI: 23.8 × 109/L) (reference range, 2.0-8.0 × 103/μL) [SI: 2.0-8.0 × 109/L], and raised C-reactive protein (CRP) 202 mg/L (SI: 1923 nmol/L) (reference range, 0-10 mg/L [SI: 0-95 nmol/L]). Her hemoglobin was 14.9 g/dL (SI: 149 g/L) (reference range, 11.5-16.5 g/dL [SI: 115-165 g/L]) and platelet count of 273 × 103/μL (SI: 273 × 109/L) (reference range, 150-450 × 103/μL [SI: 150-450 × 109/L]). She had normal renal function with creatinine 0.88 mg/dL (SI: 78 μmol/L) (reference range, 0.45-1.00 mg/dL [SI: 40-90 μmol/L]) and mildly deranged liver function tests (bilirubin 0.94 mg/dL [SI: 16 μmol/L] reference range, 0-1.17 mg/dL [SI: 0-20 μmol/L]); alanine aminotransferase [ALT] 57 U/L [SI: 950 nkat/L] reference range, 0-30 U/L [SI: 0-500 nkat/L]; aspartate aminotransferase [AST] 46 U/L [SI: 766 nkat/L] reference range, 0-30 U/L [SI: 0-500 nkat/L]; alkaline phosphatase [ALP] 117 U/L [SI: 1950 nkat/L] reference range, 30-110 U/L [SI: 500-1833 nkat/L]; and gamma-glutamyl transferase [GGT] 158 U/L [SI: 2633 nkat/L] reference range, 0-30 U/L [SI: 0-500 nkat/L]) but without evidence of synthetic dysfunction (albumin 4.2 g/dL [SI 42 g/L] reference range, 3.6-4.9 g/dL [SI: 36-49 g/L]).

Stool and blood cultures were unremarkable, and a computed tomography (CT) scan of her abdomen did not demonstrate radiological evidence of colitis. Instead, it revealed diffuse, mottled bone sclerosis. This was found to involve the entirety of her axial and appendicular skeleton. There was no evidence of hepatosplenomegaly. No inguinal, pelvic, retroperitoneal, or mesenteric lymphadenopathy was appreciable. There were nodular, consolidative changes at the right lower lobe of her lung which appeared to be infective. She was discharged with a presumed diagnosis of community-acquired pneumonia and referred to the endocrinology department for outpatient workup of osteosclerosis.