A Case of Primary Systemic Amyloidosis Confirmed by Various Diagnostic Tools and Repeated Skin Biopsies / 대한피부과학회지

Amyloidosis is a group of disorders resulting from the extracellular deposition of amyloid fibrils in tissues and organs. Primary systemic amyloidosis may be myeloma-associated or idiopathic. It involves the kidney, heart, liver, peripheral nerves, autonomic nervous system and skin. We report a case of a 76 year-old woman with primary systemic amyloidosis who suffered from ecchymotic purpura on the periorbital, flexural area with hemorrhagic bulla, and macroglossia for two years. She showed typical symptoms of AL amyloidosis, and while primary systemic amyloidosis was suspected from electrophoresis results, no amyloid was found in the skin, tongue, and bone marrow. Upon her admission due to panperitonitis from diverticulitis, she was diagnosed with primary systemic amyloidosis after amyloid deposition was confirmed in the skin and colon biopsy. She had been treated with bortezomib, but she expired from methicillin-resistant Staphylococcus aureus septic shock.

Primary systemic amyloidosis: Three different presentations.

Primary systemic amyloidosis is a rare disease. We report three cases of primary systemic amyloidosis, one case with multiple myeloma and two cases without any hematological abnormality. Purpuric lesions were the only presenting symptoms of the patient with multiple myeloma and only on investigation, myeloma was detected. Bone marrow biopsy and serum and urine electrophoresis were normal in remaining two cases. These two patients presented with typical waxy lesions on face. Cutis verticis gyrata was present in one case and carpal tunnel syndrome was seen in other case as an additional diagnostic clue. Macroglossia was present in all three cases. Diagnosis was confirmed in all three cases by biopsy using haematoxylin and eosin staining and Congo red staining. Polarized microscopy was not done because of unavailability.

Amiloidose sistêmica primária AL: relato de caso e considerações associadas / Primary systemic AL amyloidosis: case report and associated considerations

Amiloidose não é uma única doença, e sim, uma condição presente em um grupo de doenças que tem em comum a deposição extracelular patológica de proteínas insolúveis em órgãos ou tecidos. Todas as fibrilas amiloides compartilham uma mesma estrutura secundária, a conformação em folha -pregueada, e um componente não fibrilar idêntico, a pentraxina amiloide sérica P (APS). Relatamos o caso de um paciente com 62 anos, portador de amiloidose sistêmica do tipo AL. O diagnóstico foi constatado através de exames histopatológicos e de imagens. Após diagnóstico, paciente foi submetido a seis ciclos de quimioterapia com vincristina, adriamicina e dexametasona (VAD). Após o qual, foi realizado manutenção com ciclofosfamida, 600mg por um dia, e dexametasona, 40mg por quatro dias repetidos a cada 28 dias. Paciente evoluiu com melhora da sintomatologia e retorno às suas atividades habituais.

Amyloidosis is a condition inherent to a group of diseases, which exhibit the common feature of pathological extracellular deposition of insoluble proteins in organs or tissues. All amyloid fibrils share the same secondary structure, the ?-pleated sheet conformation, and a nonfibrillar identical component, the serum amyloid pentraxin (SAP). We report a 62-year-old man with systemic AL amyloidosis. Diagnosis was made through histopathology and imaging. The patient underwent 6 cycles of vincristine, adriamycin and dexamethasone (VAD), with maintenance with cyclophosphamide 600mg for 1 day and dexamethasone 40mg/day for 4 days every 28 days. The patient was relieved of his symptoms and returned to his daily activities.

A Case of Primary Systemic Amyloidosis in a Patient with Multiple Myeloma / 대한피부과학회지

Primary systemic amyloidosis is associated with plasma cell dyscrasia, such as multiple myeloma. The amyloid fibrils in the disease are composed of amyloid light (AL) protein that is derived from immunoglobulin L chain. Cutaneous manifestations are presented in about 20~40% of patients with mainly petechia, purpura on flexural area of the body and waxy, translucent papulonodules. We report a case of primary systemic amyloidosis associated with multiple myeloma occurring in a 76-year old woman who had suffered from ecchymotic purpura on periorbital and flexural area with hemorrhagic bulla for one year. She also had macroglossia with grouped papulonodules on her tongue, and peripheral neuropathy. The final diagnosis was confirmed by positive PAS, Congo-red stain and specific serum/urine electrophoresis. She had been treated with several cycles of chemotherapy; however, she expired from various complications of the disease, such as congestive heart failure, renal failure, and secondary bacterial infection.

A Case of Primary Systemic Amyloidosis Predominantly Presenting Nephrotic Syndrome and Peripheral Neuropathy / 대한신장학회잡지

Primary systemic amyloidosis is a progressive disease that is frequently fatal. Nephrotic syndrome is present in almost one-third, congestive heart failure in one-quarter, and peripheral neuropathy in one-sixth of patients at the time of diagnosis. If heart or renal failure are presented, survival rate is poor. We experienced a case of a 66 year-old female patient who had complained lower leg edema and paresthesia of extremities for about 5 months. The laboratory findings were consistent with nephrotic syndrome, but the lower leg edema was non-pitting and the cause of paresthesia was unknown. We performed kidney and nerve biopsy and confirmed a case of primary systemic amyloidosis. In this case, presence of postural hypotension, probable cardiac involvement and relatively long spikes along the outside of the glomerular capillary loops on methenamine silver stain is suggestive of poor prognosis. We can predict chronic renal failure and congestive heart failure in the course of this case. We report a case of primary systemic amyloidosis predominantly presenting nephrotic syndrome and peripheral neuropathy with review of related literatures.

Primary system amyloidosis / 대한피부과학회지

Amyloidosis is a disease complex associated with deposition of inscluble fibrillar protein in vnrious tissues of the body. Since the term, amyloidosis was first introduced by Virchow in 1853, there have been many reports in English literature, but only a few cases of iriinary systemic amyloidosis have been reported in Korea. A 56-year-old male was seven for facial purpuras, macroglossia, myilgia and arthralgia for 5 years. Histologically, the skin biopsy specimen showed amorphous, faintly eosinophilic and fissured masses of amyloid in the upper dermis that demonstrated characteristic green brefringence on Congo red staining when viewed under polarized light. Electron microscopic exanintion showed that nonbranching and nonanastomosing straigh. fibrils are irregularly arranged arouned tlie collagen fibers. Therefore, he was diagncsed with primary systemic amyloidsis by the characteristic clinical, histopathologic and ultrastructural findings.

Primary Systemic Amyloidosis involved the Conjunctiva

Amyloid may involve the conjunctiva without deposits of the skin of the eyelid in primary localized amyloidosis, but extremely rare in primary systemic amyloidosis. We describe the clinicopathologic features of a case of primary systemic amyloidosis which invloved the conjunctiva and larynx. A 58-years-old woman presented a conjuctival mass of the left eye. Slit lamp microscopy showed a pinkish, flat elevated mass on the bulbar conjunctiva, fornix, and upper tarsal conjunctiva. There was no history of antecedent ocular or systemic diseases. She had undergone total laryngectomy for laryngeal amyloidosis. Microscopically, a pale amorphous eosinophilic material was deposited in the subcojunctival tissue. The deposit showed metachromasia with crystal violet, and dichroism and birefringence in polarized light following Congo red staining. Electron microscopically amyloid was comprised of linear add non-branching fibrils, which were about 11nm in width.