Muir Torre syndrome and MSH2 mutations: the importance of dermatological awareness.
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Biomedical subjects
Publications and source records attributed to H Srolovitz.
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Oral etoposide has considerable activity in small cell lung cancer and the low risk of toxicity has resulted in the frequent prescription of this agent in elderly or infirmed patients. We describe a case of fatal pulmonary toxicity following the administration of oral etoposide. This is the first report of biopsy-proven pulmonary toxicity associated with this agent.
A case of macroglossia and resulting apertognathia because of primary amyloidosis in a 65-year-old man with multiple myeloma is described. In addition, a retrospective study of the oral manifestations of primary amyloidosis and multiple myeloma in the last 15 years is reported.
BACKGROUND: The previously reported incidence of malignant transformation of Paget disease up to 5.5% and its dismal prognosis have prompted the clinical investigation of a large population with Paget disease. METHODS: A chart review of symptomatic and asymptomatic patients with a diagnosis of Paget disease between 1970 and 1985 at four large Montreal Hospitals revealed 1078 patients. Eight patients with malignant transformation were studied in detail. RESULTS: The incidence of malignant transformation was 0.7%, and the most frequent histologic type was osteogenic sarcoma. The most prevalent site was the femur, and pathologic fracture with focal osteolysis was present in 50% of patients at the initial appearance of the tumor. Healing at the fracture site was demonstrated in one patient. Another patient died of uncontrollable hemorrhage. A case of malignant lymphoma in Paget disease is recorded. CONCLUSIONS: Surgery or biopsy should be preceded by preoperative scintigraphic bone blood flow evaluation and, if necessary, administration of a preoperative course of mithramycin and selective embolization to minimize bleeding. The prognosis of malignant transformation in Paget disease is poor, although one patient with malignant lymphoma survived after aggressive treatment. Early biopsy and aggressive treatment should not be delayed.
This is the second reported case of minocycline-induced Sweet's syndrome (and the first such case to appear in the American literature). The syndrome developed in a 32-year-old man 10 days after minocycline therapy for acne was begun and resolved rapidly after discontinuation of the medication and start of oral prednisone therapy.
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A patient with Bean's blue rubber bleb nevus syndrome presented with a hemothorax, and 18 years earlier had presented with "idiopathic" hemopercardium and tamponade. Typical hemangiomas were found in the pleura and skin. This is the first report of intrathoracic bleeding with this disorder.
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A review of the records of 112 patients demonstrate modern concepts of pathogenesis and treatment of Paget's disease. Pain from Pagetic arthritis should initially be treated by medical treatment aimed at modulation of bone blood flow. Patients, even with impressive arthritic reactions, can respond dramatically. Pain persists in patients with end-stage destruction of articular cartilage and/or stress microfractures. Patients with deformity without joint space loss may be candidates for osteotomy. Advanced cartilage destruction is treated by total arthroplasty and continuation of anti-Pagetic therapy after surgery, possibly to reduce the incidence of component loosening. Articular cartilage erosion and subchondral bone destruction are attributable to the disease process. Vascular invasion and joint surface collapse are associated with cartilage thinning and sequestration.
We observed the simultaneous occurrence of generalized lichen planus in a woman and her mother. Both patients improved after therapy with topical steroid and salicylic acid ointment. Of the eighty-one cases of familial lichen planus previously reported, the vast majority (89 percent) occurred in blood relatives. The intervals of onset between familial cases were long, ranging from six weeks to thirty years (mean 73.4 months). These observations suggest that familial lichen planus may result from genetic predisposition, rather than from an infectious cause.
We describe a 16-week fetus with a lethal multiple pterygium syndrome and hydrops. No bony abnormalities were noted on radiographic or anatomical examination. A prominent meshwork of dilated, thin-walled vessels was present in the subcutis over the entire body. This abnormal vascularity may have caused pterygium formation and death of the fetus.
We report the occurrence of benign angiomatous and mesenchymal tumors following chronic graft-versus-host disease. Our patient is a 23-year-old man who had undergone allogenic bone marrow transplantation for chronic myelogenous leukemia in 1978. Over the past 3 years he has developed poikiloderma and sclerodermatous tightening of the upper and lower extremities. From 1981 until the present time, violaceous to black friable tumors have erupted on the lower extremities. Histopathologic findings show an active mesenchymal and vascular tumorous response of variable-sized channels.
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An infant is reported with absent left hemidiaphragm, hydrocephalus, arhinencephaly, and cardiovascular anomalies. The parents are second cousins.
A 33-year-old man, who had been a teacher in Africa from 1966 to 1969, was hospitalizaed in December 1973 for radiculomyelitis with progressive paraplegia and analgesia of the lower limbs. On his fourth day in the hospital, a pruritic, papular dermatitis appeared on both lower thoracic paraspinal areas. Microscopical examination of biopsy specimens of skin from those areas showed schistosome ova within many palisading granulomas in the dermis. The morphological features of the skin lesions, as seen by gross and microscopical examination, and the morphological and staining characteristics and the pathophysiology of the schostosome organism will be discussed. The longevity of the adult worm in the portal circulation is particularly important; a long interval may elapse between the time the patient leaves the area where he became infected and the time of appearance of the lesions.