Clinical Case Summary

We report a rare case of recalcitrant gut and cutaneous Sweet Syndrome(SS) which was successfully treated with a novel not reported before treatment regime, of Adalimumab and Methotrexate (MTX).
A 50-year-old postmenopausal female with quiescent cutaneous SS presented with symptomatic iron deficiency anaemia. Thorough endoscopic gut evaluation revealed ileal ulcers with dense neutrophil infiltrates with no evidence of inflammatory bowel disease (IBD) on histology. A detailed drug history, infection and malignancy screens were unyielding. She was commenced on Azathioprine (AZT) and Prednisolone for gut SS. Six months later, her hematological indices remained low. Repeat enteroscopy showed persistent mid ileal ulcers. In view of disease recalcitrance, she was switched to MTX with Prednisolone however she represented to hospital for melena. Video capsule endoscopy showed similar findings of ulcers in the mid-distal small bowel. She remained refractory to treatment with continued abdominal pain and weight loss and persistent iron deficiency anaemia with raised inflammatory indices. We decided to commence her on a novel combination of an anti-tumour necrosis factor (TNF) agent, Adalimumab with MTX, based on extrapolation of data from previously published case reports of recalcitrant cutaneous SS and IBD (1-3). MTX was included to reduce immunogenicity (4). She tolerated Adalimumab well with Prednisolone and MTX being gradually tapered. Five months later, repeat enteroscopy showed complete healing of ulcers with resolution of constitutional symptoms and improvement in biochemical indices.
This case presents both a diagnostic and therapeutic challenge in the management of a very rare condition, in which conventional immunosuppressive agents were unsuccessful. A diagnosis of gut SS should be considered in the presence gut ulcers, especially if histological features of IBD are absent. In recalcitrant cases anti-TNF may be an alternative treatment option.

References

1. Agarwal A, Barrow W, Selim MA, Nicholas MW. Refractory Subcutaneous Sweet Syndrome Treated With Adalimumab. JAMA Dermatology. 2016;152(7):842. doi:https://doi.org/10.1001/jamadermatol.2016.0503
2. Calabrese L, Caldarola G, Peris K, De Simone C. Recalcitrant Sweet Syndrome successfully treated with adalimumab. JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 2020;19(1):122-124. doi:https://doi.org/10.1111/ddg.14223
3. Knöpfel N, Theiler M, Luchsinger I, et al. Infliximab for the treatment of recalcitrant bullous Sweet syndrome in a 10‐year‐old girl. Pediatric Dermatology. 2020;37(6):1183-1184. doi:https://doi.org/10.1111/pde.14356
4. Jani M, Barton A, Warren RB, Griffiths CEM, Chinoy H. The role of DMARDs in reducing the immunogenicity of TNF inhibitors in chronic inflammatory diseases. Rheumatology. 2013;53(2):213-222. doi:https://doi.org/10.1093/rheumatology/ket

1. Histology slides of initial biopsy slide of small bowel ulcer showing neutrophil infiltrate -> after AZT -> after MTX -> after Adalimumab
2. Endoscopic ulcer pictures at diagnosis -> after AZT -> after MTX -> after Adalimumab

Clinical Case Summary

Background: Cronkhite-Canada syndrome (CCS) is a rare non-hereditary disorder characterized by hamartomatous gastrointestinal polyps, watery diarrhea with severe malabsorption, and dermatological manifestations, including alopecia, onychodystrophy and hyperpigmentation. Approximately 500 cases have been described worldwide, mostly middle-aged Asian men. Its pathophysiology remains elusive, even if inflammation seems to play a pivotal role. Treatment involves nutritional support, immunosuppressive therapy and empirical antibiotics.
Clinical case: A 58-year-old Japanese man was admitted due to watery diarrhea (up to 10 bowel movements/d), abdominal pain, and severe weight loss (15 kg over four months). He presented with dry skin and oral mucosa, dysgeusia, progressive alopecia and onychodystrophy. Fever and night sweats were absent. Past medical and family history were unremarkable and the patient did not receive any medication. Laboratory analyses revealed severe malabsorption with hypophosphatemia, hypocalcemia, hypoalbuminemia and vitamin D deficiency, requiring parenteral nutrition. Infectious and autoimmune enteropathies were ruled out. Endoscopy, including small bowel capsule, showed diffuse mucosal inflammation, multiple gastrointestinal polyps, histologically confirmed as hamartomatous, and an irregular small bowel villous pattern, without evidence of neoplasia. CCS was diagnosed and intravenous prednisolone (1 mg/kg) was started without significant improvement. Subsequently, Infliximab (5 mg/kg) was administered for four months. Due to insufficient clinical response, empirical therapy with Upadacitinib 45 mg/d was initiated (later reduced to a maintenance dose of 30 mg/d), resulting in clinical and endoscopic improvement, which still persist after seven months.
Conclusion: Given the lack of standardized treatment for CCS, this case shows the potential role of JAK inhibitors as an effective therapeutic option after corticosteroids and anti-TNF therapy failure.

References

Figures:

• Captures from EGD, colonoscopy and SBCE pre- and post-therapy with JAK-inhibitors.
• Pictures showing alopecia and onychodystrophia.

1. Cronkhite LW, Jr., Canada WJ. Generalized gastrointestinal polyposis; an unusual syndrome of polyposis, pigmentation, alopecia and onychotrophia. N Engl J Med. 1955;252:1011–5
2. Hu H, Wu Y, Zhang Y, Zhang L, Zhang J, Zhang R. Comprehensive treatment of Cronkhite-Canada syndrome: A case report and literature review. Medicine (Baltimore). 2023 Feb 10;102(6):e32714. doi: 10.1097/MD.0000000000032714.
3. Ze-Yu Wu, Li-Xuan Sang, Bing Chang, Cronkhite–Canada syndrome: from clinical features to treatment, Gastroenterology Report, Volume 8, Issue 5, October 2020, Pages 333–342, https://doi.org/10.1093/gastro/goaa058
4. Sweetser S, Alexander GL, Boardman LA. A case of Cronkhite-Canada syndrome presenting with adenomatous and inflammatory colon polyps. Nat Rev Gastroenterol Hepatol. 2010 Aug;7(8):460-4. doi: 10.1038/nrgastro.2010.112.
5. Mizushima H, Kinugasa H, Otsuka M. Unraveling a Rare Case: Diarrhea, Alopecia, and Polyposis. Gastroenterology. 2025 Feb 18:S0016-5085(25)00371-5. doi:10.1052/j.gastro.2025.02.005.
6. Wallenhorst T, Pagenault M, Bouguen G, Siproudhis L, Bretagne JF. Small-bowel video capsule endoscopic findings of Cronkhite-Canada syndrome. Gastrointest Endosc. 2016 Oct;84(4):739-40. doi: 10.1016/j.gie.2016.04.004.

Clinical Case Summary

A 54-year-old male with no significant past medical history presented with a five-year history of chronic gastrointestinal and systemic symptoms. He was initially diagnosed with irritable bowel syndrome (IBS) based on recurrent postprandial bloating, periumbilical abdominal discomfort, alternating diarrhea and constipation, and a persistent sensation of gastric fullness independent of food intake. Despite comprehensive management and a low-FODMAP diet, he reported minimal to no clinical improvement.
In addition to gastrointestinal complaints, the patient described recurrent headaches and chronic fatigue, both temporally associated with the consumption of histamine-rich foods such as red wine, aged cheeses, and processed meats. The neurological evaluation was unremarkable. Laboratory investigations were within normal limits, including complete blood count, inflammatory markers, liver and renal function tests, and celiac serologies. Gastroscopy and colonoscopy excluded structural, neoplastic, and inflammatory gastrointestinal pathology. However, serum diamine oxidase (DAO) activity was significantly decreased (2.8 U/mL; reference >10 U/mL), suggesting histamine intolerance secondary to DAO deficiency as the underlying etiology.
Therapeutic intervention included a strict low-histamine diet, oral DAO supplementation, and intermittent use of H1-antihistamines for symptomatic exacerbations. At a three-month follow-up, the patient reported substantial improvement in gastrointestinal and systemic symptoms, including normalizing bowel habits, resolution of headaches, and alleviating fatigue and bloating.
This case underscores the importance of considering histamine intolerance in patients with persistent IBS-like symptoms, particularly when conventional therapeutic strategies fail and symptom patterns suggest dietary histamine sensitivity. DAO activity testing may aid in diagnosis and guide effective, targeted therapy.

Disclosure

No Conflict of Interest.

Clinical Case Summary

Background: AL (amyloid light chain) amyloidosis is a rare systemic disorder affecting the heart, kidneys, nervous system, and gastrointestinal (GI) tract. GI involvement typically presents with malabsorption or dysmotility from mucosal amyloid deposition. We describe an unusual case presenting as small bowel obstruction (SBO), initially attributed to adhesions.
Case presentation: An 84-year-old man with a history of radical cystoprostatectomy and ileal conduit for urothelial carcinoma presented with recurrent SBO over three months. The initial suspicion was that of adhesive obstruction due to the surgical history. He underwent laparotomy with adhesiolysis and small bowel resection, but the symptoms persisted with high nasogastric output and ongoing obstruction. Histology from the first resected segment did not reveal any specific pathology.
A contrast follow-through study showed dilated small bowel loops with a transition point. Computed Tomography (CT) of the abdomen and pelvis revealed proximal jejunal dilation and segmental circumferential wall thickening.
Antegrade double-balloon enteroscopy (DBE) was performed and it revealed a tumor-like nodular stricture in the jejunum, 68 cm from the incisors. Biopsies showed Congo red-positive amyloid with birefringence and lambda-restricted plasma cells. Repeat surgical resection confirmed amyloid at both margins.
Bone marrow aspirate showed a lambda-restricted plasma cell population (0.5%). Mass spectrometry confirmed AL amyloidosis (lambda type).Positron Emission Tomography-CT (PET-CT) revealed Fluorodeoxyglucose uptake in the right paracolic peritoneum. Cardiac MRI ruled out cardiac involvement.
The patient received 8 cycles of bortezomib-cyclophosphamide-dexamethasone (VCD). Interval PET-CTs showed resolution and he remained well on maintenance bortezomib 16 months post-treatment initiation.
Conclusion: This case illustrates an unusual AL amyloidosis presentation, with a focal tumor-like jejunal stricture, causing SBO.

References

We plan to include endoscopic, radiological, and pathological visuals in the final poster. This includes:

1. Double-balloon enteroscopy (DBE) image showing a jejunal nodular lesion;
2. Congo red-stained histology demonstrating apple-green birefringence under polarized light;
3. Computed tomography (CT) showing proximal jejunal dilation and segmental mural thickening;
4. Initial and follow-up PET-CT scans showing fluorodeoxyglucose (FDG) uptake and treatment response;
5. Bone marrow aspirate results with flow cytometry and immunofixation confirming a lambda-restricted plasma cell population.

• Kwon JH et al. An Unusual Cause of Acute Intestinal Pseudo-Obstruction. Case Rep Gastroenterol. 2019;13(3):507–512. [PMC6873005]
• González-Suárez B et al. A Rare Cause of Diarrhea Detected by Balloon-Assisted Enteroscopy. Case Rep Gastroenterol. 2022;16(3):577–582. [PMC9638858]
• Siddiqui A et al. A Rare Cause of Intestinal Pseudo-obstruction: Gastrointestinal Amyloidosis. Cureus. 2020;12(4):e7583. [PMC7199901]