Type AA renal amyloidosis in sarcoidosis

Sarcoidosis is an uncommon cause of secondary amyloidosis. We describe in this paper the case of a 39 years old patient, with a pulmonary and hepatosplenic sarcoidosis. A nephrotic syndrome led to a renal biopsy which showed AA type amyloidosis. As no other cause of amyloidosis has been found we admitted that it was a result of sarcoidosis which was associated with the unusual inflammatory syndrome.     

Dermatomyositis complicated by sarcoidosis

We encountered a patient with dermatomyositis complicated by sarcoidosis. A 57-year-old woman was admitted to our hospital because of fever dry cough, and myalgias. There were reticular shadows on her chest X-ray film. Although the typical skin rash and myositis suggested the diagnosis of dermatomyositis biopsy specimens from a salivary gland, muscle, and lung revealed noncaseating granulomas as well. Uveitis was also noted. These findings suggested the coexistence of sarcoidosis with dermatomyositis. Examination of the lung-biopsy specimens showed interstitial pneumonia compatible with dermatomyositis, except for the granuloma. The typical rash of dermatomyositis and pathological findings of the lung specimen were inconsistent with sarcoidosis. Therefore we concluded that this patient had both dermatomyositis and sarcoidosis. This case sheds new light on the importance of pathological examinations.     

Surgical management for instability and paraplegia caused by spinal sarcoidosis. A case report

STUDY DESIGN: Report of a patient with paraplegia caused by vertebral sarcoidosis. OBJECTIVES: To report a rare case of vertebral sarcoidosis accompanied by progressive neurologic symptoms from the lower extremities, and to discuss the diagnostic and therapeutic approach to its management. SUMMARY OF BACKGROUND DATA: Vertebral sarcoidosis is a rare condition, and only a few case reports exist in the literature. A needle or open biopsy is required to establish the diagnosis. In most cases, treatment with steroids improves associated neurologic symptoms. Operative intervention is necessary in cases with progressive vertebral destruction, spinal instability, and impending or progressive neurologic deterioration. METHODS: Operative treatment by a two-stage anterior vertebrectomy and fusion followed by posterior stabilization was given to a patient with vertebral sarcoidosis and progressive neurologic deterioration of the lower extremities. RESULTS: After surgery, the patient had a complete neurologic recovery and satisfactory spinal fusion. CONCLUSIONS: In the absence of any spinal instability, neurologic symptoms associated with vertebral sarcoidosis respond satisfactorily to nonoperative treatment with steroids. Progressive neurologic deterioration or spinal instability caused by bone destruction requires operative intervention. Anterior vertebrectomy and fusion combined with posterior stabilization provided a satisfactory result for the patient in this report.     

Renal amyloidosis in a drug abuser

Drug abusers, particularly those who inject drugs s.c. ("skin popping"), may develop amyloidosis. Chronic infections are thought to play a pathogenetic role in this setting. A patient is presented who had a history of "skin popping" cocaine and heroin and developed nephrotic syndrome, with an elevated serum creatinine and a creatinine clearance of 61 mL/min. Renal biopsy demonstrated amyloidosis. Treatment with colchicine was initiated, and proteinuria decreased to near normal levels after 12 months. Concomitant with the decrease in proteinuria, creatinine clearance improved, although a repeat renal biopsy failed to show any significant improvement in amyloid burden. These observations suggest that colchicine may be a useful treatment in reversing the proteinuria of renal amyloidosis associated with drug abuse. Furthermore, clinical improvement may occur before any demonstrable regression in the amyloidosis.     

Nonpainful swelling of the palate and loosening of the maxillary incisors

Bone lesions in the maxilla have rarely been described in relation to sarcoidosis. This patient exhibited many of the classic signs of sarcoidosis, including lack of symptoms at the time of presentation, which resulted in the diagnosis of sarcoidosis being made serendipitously. The presence of musculoskeletal lesions is often regarded as a poor prognostic sign and, in general, sarcoidosis follows a more virulent course in black patients. Sadly, the course of the disease in this patient continues to march onward despite a 1-year therapeutic trial of corticosteroids.     

A sequence in the 5'' flanking region confers progestin responsiveness on the human c-myc gene

Sarcoidosis is a systemic granulomatous disease of undetermined etiology in which the immune system is overstimulated. Management of the patient with sarcoidosis entails continuity of patient care far beyond disease, even into remission. Care is comprehensive, including all involved organ systems, coordination of specialty consultations and services, and includes diagnostic tests. Therapeutic decisions are the responsibility of the primary care practitioner. Prognosis of sarcoidosis is not uniformly good. Patients can die. Subacute sarcoidosis patients usually do not require pharmacologic therapy. Chronic sarcoidosis may require long-term treatment for years to indefinitely. Corticosteroids are still the drugs of choice and other therapy is now available. Health organizations and private nonprofit support groups are available for patient education and assistance. Close support must still come from the family unit. Sarcoidosis may occur in family members in different cohorts at all ages in life and in any racial or ethnic group. The second in a two-part series on management of the patient with sarcoidosis, this article describes coordination of care and considers community, prevention, and family aspects of the disease.     

Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia

A 57 year-old patient with localized pseudo-tumoral amyloidosis of bladder is described. There was no past medical history. Hematuria was the main symptom. The treatment consisted in transurethral resection. Two recurrences occurred at 4 and at 6 years which were also treated by resections. Clinical and biological evaluation was normal. Localized pseudo-tumoral amyloidosis of the urinary tract is a rare affection of good prognosis. Lesions present as pseudo-tumoral masses which can be biopsied without any risk of hematuria. Investigations are required to eliminate a generalized amyloidosis or a malignant lymphoproliferation. Treatment should be as conservative as possible.     

Lack of association between manic-depressive illness and a highly polymorphic marker from GABRA3 gene

Subcutaneous sarcoidosis appears to be rare and is usually associated with hiliar adenopathy. Finger swelling is well recognized in patients with sarcoidosis and usually results from bony involvement or tenosynovitis. We report a patient with subcutaneous sarcoidosis and dactylitis. Biopsy of a finger and of subcutaneous nodules showed similar features with a granulomatous infiltrate. There were no osseus or tendinous lesions.     

Exogenously acquired Clostridium septicum gas gangrene--a case report

Hepatic involvement is frequently in systemic amyloidosis but major clinical symptoms due to portal hypertension or liver failure are rare. To date all treatment modalities proven in these patients have failed. Thus, prognosis is dismal with progressive deterioration in liver function. We describe a patient with massive liver involvement by primary amyloidosis, manifested by severe intrahepatic cholestasis. Up to now 25 similar case have been reported in the English literature. In this subset of patients the most frequently recorded cause of death was renal failure accelerated by hyperbilirrubunemia. In our patient a downhill course was characterized by fatal renal hepatic failure after an hemoperitoneum, probably as a delayed complication of liver biopsy. Although not all authors agree, an added risk of bleeding after liver biopsy have been pointed out in hepatic amyloidosis. This kind of problem recommends the use of tissue other than liver, or a transjugular hepatic biopsy for diagnostic purposes. Also, of interest in the present cause is the autopsy findings of pancreatitis associated to pancreatic amyloidosis, a complication which have been described in previous reports.     

A case of concomitant tuberculosis and sarcoidosis with mycobacterial DNA present in the sarcoid lesion

A 35-year-old Chinese woman initially presented with histologically and bacteriologically confirmed tuberculous lymphadenitis. She was also found to have thrombocytopenia, elevated serum alkaline phosphatase, and bilateral lung infiltrates. After 15 months of antituberculosis treatment, despite resolution of the cervical lymphadenopathy, she started to experience dyspnea. Chest radiograph appearance, thrombocyte count, and liver biochemistry had all deteriorated as well. Histologic findings from tissues obtained via transbronchial biopsy and open lung biopsy were consistent with sarcoidosis but also showed the presence of mycobacterial DNA by the polymerase chain reaction. She subsequently achieved a very good response clinically, radiographically, hematologically, and biochemically with 1-year of corticosteroid treatment for her sarcoidosis, and she remained relapse-free afterwards. The concomitant presence of tuberculosis and sarcoidosis in this patient together with the presence of mycobacterial DNA in the sarcoid lesion reiterate the possibility that mycobacteria or some of its components may be capable of inducing the immune response and the pathologic changes of sarcoidosis.     

Retinoic acid and its receptors

We report on a patient presenting with cutaneous leucocytoclastic vasculitis in association with sarcoidosis. Detailed investigations did not show evidence of infectious or neoplastic diseases. Vasculitis was therefore considered to be secondary to sarcoidosis. A review of 4 other previously reported cases reveals a common presentation with the association of vasculitic skin lesions with deep cutaneous nodules, mediastinal lymph nodes and arthritis. The role of antibody response in leucocytoclastic vasculitis is discussed.     

Temporal artery involvement revealing AL amyloidosis and IgD monoclonal gammopathy

We report a patient who presented with clinical symptoms suggesting giant cell arteritis. A diagnosis of AL amyloidosis was made on temporal artery biopsy. Temporal artery involvement is unusual in AL amyloidosis, but its frequency may be underestimated. Another uncommon finding was the presence of an IgD monoclonal gammopathy without diagnostic features of multiple myeloma.     

Sonographic findings in testicular sarcoidosis simulating malignant nodule

Testicular involvement by sarcoidosis is rare. We report a case of a patient with known sarcoid who had a unilateral testicular nodule with apparent capsular invasion on sonography. The epididymis was normal on both sides. Despite these atypical features, pathology showed the nodule to be a sarcoid granuloma. In patients with sarcoidosis, the differential diagnosis of an intratesticular mass should include testicular involvement by sarcoid.     

Sarcoidosis with orbital tumor outside the lacrimal gland: initial manifestation in 2 elderly white women

Two elderly white women (aged 72 and 87 years) were first seen with painless, unilateral orbital swelling. Orbital scanning revealed masses infiltrating the soft tissue around the eye. Biopsy results showed nodular, noncaseating granulomas consistent with sarcoidosis. One patient's workup revealed systemic manifestations of sarcoidosis at the time of examination with hilar lymphadenopathy noted on gallium scan; the other refused a complete systemic workup. The orbital tumors resolved with systemic prednisone therapy. To our knowledge, our 87-year-old patient is the oldest to be seen with orbital sarcoidosis. These 2 patients demonstrate that this diagnosis must be considered with orbital tumors in the elderly and in unusual locations, such as these which occurred outside the lacrimal gland.     

Feasibility of stent placement above the sphincter of Oddi ("inside-stent") for patients with malignant biliary obstruction

In three cases of primary pulmonary amyloidosis the chief complaint was hemosputum. The diagnosis of amyloidosis was made using histochemical analysis of bronchial wall biopsy in all cases; multiple nodular lesions were observed in trachea and bronchi on flexible fiberoptic bronchoscopy. The surface of the tracheobronchial mucosa was smooth but bled easily. In one patient, chest X-ray film showed a solitary nodular shadow in the left lower lung field. These three cases were tracheobronchial amyloidosis, and one case was combined with nodular parenchymal type amyloidosis.     

Few patients with "chronic prostatitis" have significant bladder outlet obstruction

Apolipoprotein E (apoE) is one of the amyloid associated proteins that is found in the amyloid plaque of Alzheimer's disease and systemic amyloidosis. ApoE might play an important part in the etiology of Alzheimer's disease by functioning as a "pathologic chaperone" to promote the formation of amyloid filaments. In this study, we investigated whether apoE is associated with amyloid deposits of primary localized cutaneous amyloidosis using immunohistochemistry, immunogold electron microscopy, and immunoblotting. The subjects consisted of 12 patients with lichen amyloidosus and one patient with macular amyloidosis. Light microscopically, amyloid deposits in the dermal papillae were round in shape and stained with Congo red. Immunohistochemically, apoE was detected in amyloid deposits in all the cases examined. Immunogold electron microscopy showed apoE immunoreactivity on the amyloid deposition. Immunoblots of amyloid-positive skin showed 35K and 14K proteins, which were taken to be apoE and its fragment, respectively. In normal skin extract, only the 35K protein was detected by the anti-human apoE. Moreover, the intensity of the amyloid-positive skin sample was stronger than that of the normal skin sample. Monoclonal anti-cytokeratin antibody reacted with the 45K protein of the amyloid-positive skin extract. These results indicate that apoE is a component of primary localized cutaneous amyloidosis, and that it might play an important role in primary localized cutaneous amyloidosis.     

A case of epididymal sarcoidosis

We reported a case of epididymal sarcoidosis. The patient was a 13-year-old boy with a chief complaint of right scrotal mass. On physical examination, a firm, nontender 7 mm mass was palpable in the right hemiscrotum and appeared to involve the head of the epididymis. Ultrasonography showed a highly echogenic mass in the epididymis. A routine chest X-ray revealed lymphadenopathy of the mediastinum and reticular shadows in bilateral lung fields. Because the lesion might be confined to the epididymis, a partial epididymectomy was performed. The histopathologic specimen showed noncaseating granulomas consistent with sarcoidosis. Lung biopsies also revealed noncaseating granulomas. Subsequent pulmonary function studies revealed a mild obstructing ventiratory defect, therefore therapy was instituted with systemic steroids. There were no further recurrent scrotal masses. Although sarcoidosis is known to affect many organs, involvement of the genital system is relatively rare. Most of the patients with intrascrotal sarcoid lesions have an abnormal chest X-ray. We need to differentiate these lesions from advanced testicular cancer. This is the 5th case of intrascrotal sarcoidosis in Japanese literature.     

Interleukin 6-producing malignant mesothelioma

Systemic amyloidosis of the amyloid A (AA) type, is occasionally associated with various neoplasms, but the cause is still unclear. We obtained interleukin 6 (IL-6)-producing cells designated YO from a primary culture of a malignant peritoneal mesothelioma of epithelial type obtained from a 62-year-old woman. Post mortem examination revealed that the patient had systemic amyloidosis of the AA type. The supernatant media of YO cells, as well as recombinant human IL-6, successfully induced nonneoplastic liver cells to produce serum AA (SAA). Our data suggest that IL-6 produced by the tumor cells may have played an important role in the paraneoplastic syndrome of AA amyloidosis in this patient.     

Sarcoidosis with cardiac involvement

Patients with significant cardiac sarcoidosis are at increased risk of sudden death from ventricular dysrhythmias or conduction disturbances. We report a patient in whom there was radiographic and histologic evidence of systemic sarcoidosis; though histologic confirmation of involvement of heart by sarcoidosis is lacking, the clinical manifestations, radionuclide image findings, rhythm disturbances, and the response to steroid therapy are strong evidence in favor of myocardial involvement by the granulomatous process.     

Sarcoid-like hepatic granulomas, associated with gastric neoplasia. Description of a case

Giant cell granulomas in liver biopsies is a relative common finding. Among the many causes of granulomatous lesions of the liver primary biliary cirrhosis and sarcoidosis are the most frequently diagnosed. On the other hand sarcoid-like granulomatous reaction can be encountered associated to malignant tumours. Purpose of the present paper is to describe a case of a sarcoid-like reaction of the liver associated to gastric adenocarcinoma. The patient was a 66 yr old man who underwent gastrectomy for a signet-ring cell adenocarcinoma. Pathological anamnesis was unremarkable. Liver function tests were within normal limits. Chest x ray was normal. A liver biopsy was performed during surgery as the liver presented an irregular surface. On histology giant cell granulomas with sarcoid-like features were seen in the hepatic parenchyma. Same reaction was present in the perigastric lymph nodes. The patient died immediately after surgery due to massive pulmonary embolism. No autopsy was performed. Among the possible diagnoses primary biliary cirrhosis, sarcoidosis and paraneoplastic sarcoid-like granulomatous reaction were considered. Primary biliary cirrhosis and sarcoidosis were excluded on the basis of the past clinical history of the patient, that was unremarkable; furthermore liver function tests performed preoperatively were within normal ranges. Thus paraneoplastic sarcoid-like reaction involving the liver was regarded as the most likely diagnosis.