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 sub...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.展开更多
Background: Reflectance confocal microscopy (RCM) is a high-resolution imaging tool for in vivo noninvasive evaluation of skin lesions. Objective: We sought to describe the relevant RCM features for pigmented basal ce...Background: Reflectance confocal microscopy (RCM) is a high-resolution imaging tool for in vivo noninvasive evaluation of skin lesions. Objective: We sought to describe the relevant RCM features for pigmented basal cell carcinoma (BCC). Methods: Pigmented skin lesions with a differential diagnosis of pigmented BCC were imaged using dermoscopy and RCM, followed by excision for histologic analysis. Results: RCM demonstrated aggregations of tightly packed cells with palisading, forming cordlike structures and nodules with irregular borders and variable brightness; these represented nests of pigmented basaloid tumor cells on histopathology, and blue-gray ovoid areas on dermoscopy. These tumor nests were associated with bright dendritic structures, identified histologically as either melanocytes or Langerhans cells, together with numerous bright oval to stellate-shaped structures with indistinct borders representing melanophages, and with highly refractile granules of melanin. Limitations: The pigmented BCCs imaged in this study were predominantly nodular; a different set or additional criteria may be necessary for detection of infiltrative and metatypical BCCs. Conclusion: RCM may permit in vivo diagnosis of pigmented BCC.展开更多
文摘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.
文摘Background: Reflectance confocal microscopy (RCM) is a high-resolution imaging tool for in vivo noninvasive evaluation of skin lesions. Objective: We sought to describe the relevant RCM features for pigmented basal cell carcinoma (BCC). Methods: Pigmented skin lesions with a differential diagnosis of pigmented BCC were imaged using dermoscopy and RCM, followed by excision for histologic analysis. Results: RCM demonstrated aggregations of tightly packed cells with palisading, forming cordlike structures and nodules with irregular borders and variable brightness; these represented nests of pigmented basaloid tumor cells on histopathology, and blue-gray ovoid areas on dermoscopy. These tumor nests were associated with bright dendritic structures, identified histologically as either melanocytes or Langerhans cells, together with numerous bright oval to stellate-shaped structures with indistinct borders representing melanophages, and with highly refractile granules of melanin. Limitations: The pigmented BCCs imaged in this study were predominantly nodular; a different set or additional criteria may be necessary for detection of infiltrative and metatypical BCCs. Conclusion: RCM may permit in vivo diagnosis of pigmented BCC.
