Browsing by Author "Simpson, Sarah"

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    Painful, bleeding fingertip papule
    Gay, Jane; Simpson, Sarah; Rush, Patrick; Holliday, Alex (Elsevier, 2022)
    A 66-year-old man presented with a 3-month history of a painful and bleeding fingertip papule that had temporarily improved after silver nitrate application. Pertinent history included stage IV clear cell renal cell carcinoma (ccRCC) treated with radical nephrectomy and adjuvant ipilimumab/nivolumab. Recent imaging confirmed continued regression of metastases, and the patient was clinically doing well. Examination demonstrated a violaceous and hyperkeratotic papule. Biopsy revealed a dermally based, lobulated, eosinophilic epithelioid cell population with extravasated red blood cells. Immunohistochemistry was negative for CD31, CK7, and CK20 and positive for AE1/AE3, AMACR, PAX8, and CD10 within the epithelioid cell population.
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    Persistent diarrhea with petechial rash - unusual pattern of light chain amyloidosis deposition on skin and gastrointestinal biopsies: A case report
    Bilton, Shawna E.; Shah, Nikhil; Dougherty, Diana; Simpson, Sarah; Holliday, Alex; Sahebjam, Farhad; Grider, Douglas J. (Baishideng, 2022-10-06)
    BACKGROUND Amyloidosis is a rare disease characterized by extracellular deposition of misfolded protein aggregated into insoluble fibrils. Gastrointestinal involvement in systemic amyloidosis is common, but is often subclinical or presents as vague and nonspecific symptoms. It is rare for gastrointestinal symptoms to be the main presenting symptom in patients with systemic amyloidosis, causing it to be undiagnosed until late-stage disease. CASE SUMMARY A 53 year-old man with diarrhea, hematochezia, and weight loss presented to a community hospital. Colonoscopy with biopsy at that time was suspicious for Crohn disease. Due to worsening symptoms including nausea, vomiting, and a new petechial rash, an abdominal fat pad biopsy was done. The biopsy showed papillary and adnexal dermal amyloid deposition, in a pattern usually seen with cutaneous amyloidosis. However, Cytokeratin 5/6 was negative, excluding cutaneous amyloidosis. The patterns of nodular amyloidosis, subcutaneous amyloid deposits and perivascular amyloid were not seen. Periodic Acid-Schiff stain was negative for lipoid proteinosis, Congo red was positive for apple green birefringence on polarization and amyloid typing confirmed amyloid light chain amyloidosis. Repeat endoscopic biopsies of the gastrointestinal tract showed amyloid deposition from the esophagus to the rectum, in a pattern usually seen in serum amyloid A in the setting of chronic inflammatory diseases, including severe inflammatory bowel disease. Bone marrow biopsy showed kappa-restricted plasma cell neoplasm. CONCLUSION Described is an unusual presentation of primary systemic amyloidosis, highlighting the risk of misdiagnosis with subsequent significant organ dysfunction and high mortality.