Pinch Purpura in Adult Colloid Milium-A Case Report.

Colloid milium is a rare cutaneous deposition disorder characterized by the presence of asymptomatic multiple dome-shaped semi-translucent waxy yellowish or skin-colored papules. It is commonly seen on the face and dorsum of forearms and arms due to chronic sun exposure. Nodular amyloidosis and primary systemic amyloidosis mimic adult colloid milium more closely. They share indistinguishable common features clinically and histologically. Purpura following trivial injury is a cardinal feature of primary systemic amyloidosis. Here, we are reporting a case of adult colloid milium, presented with waxy papules and purpura involving the dorsa of the lower half of the forearms and hands which is confirmed by histopathological and immunohistochemical studies.

A Case of Multiple Myeloma-Associated Systemic Amyloidosis with Multiple Skin Manifestations as the First Symptom.

An 81-year-old woman presented with purpura, petechiae, ecchymoses, flesh or brown-colored waxy, smooth, papules, warty plaque, nail dystrophy and palmodigital erythematous swelling for more than 6 years. She was diagnosed as multiple myeloma-associated systemic amyloidosis after skin subcutaneous histopathological examinations and relevant examinations such as blood and bone marrow. Systemic amyloidosis is closely related with multiple myeloma (MM). Multiple and pleomorphic skin lesions are not usual among patients with multiple myeloma or systemic amyloidosis.

Hepatocyte Growth Factor and Primary Systemic Amyloidosis.

A 75-year-old-man experienced liver dysfunction and was diagnosed with decompensated liver cirrhosis. His serum hepatocyte growth factor (HGF) was very high (16.24 ng/ml). Because the etiology was unclear, we considered the possibility of amyloidosis. Biopsy of the mucosa of the stomach, duodenum and rectum demonstrated amyloid deposition. From the findings of Congo red staining and immunohistochemical analyses, we made a diagnosis of systemic amyloid light-chain amyloidosis. Unfortunately, the patient died one month after the diagnosis. We considered that serum HGF was useful for the diagnosis and prediction of prognosis of primary systemic amyloidosis.

Cutaneous amyloidosis as the first presentation of Waldenstrom macroglobulinemia.

BACKGROUND: Waldenstrom macroglobulinemia is a lymphoplasmacytic lymphoma with elevated serum immunoglobulin M and multi-organ involvement. Primary systemic amyloidosis usually develops due to immunoglobulin light chains depositions in different organs due to an underlying gammopathy. CASE PRESENTATION: Our patient was an 86-year-old man with macroglossia, ecchymotic patches and bullous lesions associated with a skin laxity on the periorbital, palmar, and glans penis areas. Skin biopsy confirmed dermal amyloid depositions. In serum immunofixation electrophoresis, prominent monoclonal immunoglobulin-M lambda light chains were detected associated with prominent lymphoplasmacytic infiltration in bone marrow biopsy which was diagnosed as Waldenstrom macroglobulinemia. CONCLUSION: Skin involvement presenting as cutaneous amyloidosis could be the first manifestation of Waldenstrom macroglobulinemia. We should think about an underlying gammopathy in an old patient with skin laxity and ecchymosis.

Primary systemic amyloidosis: A rare cause for pleural effusion.

Pleural effusion is a common problem dealt by most of the practicing clinicians. Some causes for pleural effusion are less often considered as a differential diagnosis owing to its rarity. Here we report a case of renal amyloidosis on alternate day haemodialysis for about two months time presenting with left sided pleural effusion. On evaluation this turned out to be a case of amyloidosis on thoracoscopic pleural biopsy suggesting the possibility of Primary systemic amyloidosis.

Primary systemic amyloidosis with extensive gastrointestinal involvement.

We report this case of a 42-year-old woman who presented with a debilitating illness manifested by intractable nausea, vomiting, diarrhea and unchecked weight loss. The patient had multisystem involvement that presented as anemia, abnormal liver function tests and progressively deteriorating renal function necessitating dialysis. She was found to be profoundly hypoalbuminemic secondary to malabsorptive and protein-losing enteropathy in tandem with nephrotic range proteinuria. Intolerance to enteral feeding led the patient to be dependent on parenteral nutrition. Serum immunofixation revealed IgG lambda monoclonal protein. The patient underwent endoscopic evaluation with biopsies taken from the gastrointestinal tract that confirmed the diagnosis of primary systemic light-chain amyloidosis. A subsequent bone marrow biopsy revealed normocellular bone marrow with deposition of amyloid. The patient was not considered for autologous stem cell transplantation as the outcomes in patients with multisystem involvement are often poor, with a high mortality risk. Diffuse primary systemic light-chain amyloidosis involving the gastrointestinal tract is a rare entity and is to be considered among differentials in patients presenting with unexplained malabsorptive symptoms.

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.

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.