1/17. breast cancer associated with Recklinghausen's disease: report of a case.A 49-year-old woman with Recklinghausen's disease presented to our department for investigation of a left breast lump, measuring 60 mm x 50 mm, which she had first noticed 6 months earlier, but had disregarded, believing it to be another manifestation of her Recklinghausen's disease. The lump was suspected to be malignant based on physical examination and ultrasonography. biopsy and frozen sections subsequently confirmed a diagnosis of scirrhous carcinoma. A standard radical mastectomy was performed, followed by postoperative chemoendocrine therapy. However, lungs, liver, and bone metastasis, as well as a contralateral breast tumor, developed and she died 4 months after surgery.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/17. Neurofibromatosis, stroke and basilar impression. Case report.Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
3/17. Concomitant vagal neurofibroma and aplasia of the internal carotid artery in neurofibromatosis type 1.We report the case of a patient with neurofibromatosis type 1 who had both aplasia of an internal carotid artery (ICA) and a vagal neurofibroma. To our knowledge, this is the first report in the literature of the simultaneous presence of these two rare disorders in a single patient. We believe that this is also the first report of an absence of an ICA in a patient with neurofibromatosis type 1. The patient was a 19-year-old woman who complained of a slowly growing neck mass. The mass occupied the right parapharyngeal space and upper cervical region. The patient had no other masses on physical examination, but widespread cafe au lait spots were evident. This led us to suspect the presence of a vagal neurofibroma. The tumor was removed, and pathology confirmed the diagnosis. No intracranial aneurysms were detected on cerebral angiography.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
4/17. Management issues in massive pediatric facial plexiform neurofibroma with neurofibromatosis type 1.BACKGROUND: Plexiform neurofibroma is a relatively common but potentially devastating manifestation of neurofibromatosis type 1 (NF1). Surgical management is the mainstay of therapy, but within the head and neck region it is limited by the infiltrating nature of these tumors, inherent operative morbidity, and high rate of regrowth. METHOD: We describe a case of a 7-year-old girl with neurofibromatosis type 1 and a massive facial plexiform neurofibroma with the aim of emphasizing the treatment and timing issues involved in the management of this difficult problem. A medline search (1966 through December 2000) was carried out, and pertinent literature on the subject was reviewed. RESULT: The patient described in this case report was carefully observed for a period of 6 years from diagnosis before surgical excision of the tumor was undertaken with an uneventful recovery. CONCLUSION: Surgical management remains the mainstay of treatment for these locally invasive tumors, but functional disturbances are almost inevitable in resecting substantial tumors involving the head and neck region. The indication and timing of surgery in pediatric patients therefore needs to be carefully weighed against the physical and psychologic consequences of treatment.- - - - - - - - - - ranking = 0.12058202915032keywords = physical (Clic here for more details about this article) |
5/17. A corneal diffuse neurofibroma as a manifestation of von recklinghausen disease.PURPOSE: To report a case of a primary corneal diffuse neurofibroma in a patient with von Recklinghausen disease (NF-1). methods: Case report. A physical examination and histopathology were performed. The immunohistochemical studies were performed using an avidin-biotin-peroxidase complex technique on formalin-fixed and paraffin-embedded tissue. Histologic sections from corneal tissue were incubated with primary antibodies against vimentin and S-100 protein. A complementary ultrastructural study of the same formalin-fixed and paraffin-embedded tissue was made. RESULTS: The ophthalmologic examination revealed a yellowish-white elevated mass that involved the supratemporal cornea but not the limbus. Histologic study showed a tumor of the peripheral nerve sheath, a diffuse neurofibroma in the corneal stroma, and proliferation of spindle cells with markedly elongated nuclei. cells comprising the tumor reacted with vimentin and S-100 protein, and the ultrastructural studies revealed myelinated nerve fibers confirming the diagnosis. CONCLUSION: The development of a primary diffuse neurofibroma in the cornea of patients with von Recklinghausen disease is possible. The present case supports the statement that neurofibromas arising from the peripheral nerve sheath may involve any part of the body.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
6/17. Case of the month. Neurofibromatosis type 1.A 22-year-old white female presented to the Jones eye Institute (JEI) complaining of pain and blurred vision in her left eye (OS). Slit-lamp examination revealed Lisch's nodules, and physical examination revealed multiple cutaneous neurofibromas and cafe-au-lait spots leading to a new diagnosis of neurofibromatosis type 1 (NF-1).- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
7/17. Neurofibromatosis type 1 associated with central nervous system lymphoma.PURPOSE: To report the occurrence of central nervous system (CNS) lymphoma in a patients with neurofibromatosis type 1 (NF1). DESIGN: Interventional case report. methods: A 47-year-old male with a parieto-occipital lobe lesion was referred for ocular evaluation. skin, brain, and vitreous biopsies were performed. RESULTS: The discovery of Lisch nodules of the iris prompted a physical examination that revealed cutaneous stigmata of NF1. biopsy of the CNS lesion revealed diffuse large B-cell lymphoma. biopsy of papules on the back and abdomen were compatible with neurofibroma. No malignant cells were found in the vitreous specimen. A clinical diagnosis of NF1 was made. CONCLUSION: This is the first report of CNS lymphoma in a patient with NF1. Additional reports may shed more light on the possible association between the two conditions.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
8/17. Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl.Neurofibromatosis type 1 and tuberous sclerosis are the two most common neurocutaneous disorders in humans. Both are transmitted as autosomal dominant conditions with a high rate of new mutations and similar clinical features. However, the two disorders have distinct and well-delineated genetic, biochemical, and physical findings. Simultaneous occurrence of these two conditions is rare. We report on a young girl who inherited both disorders, review similar cases reported in the world literature, and discuss possible implications of the presence of NF1 and TSC in the same individual.- - - - - - - - - - ranking = 0.12058202915032keywords = physical (Clic here for more details about this article) |
9/17. rupture of the thyrocervical trunk branch from the subclavian artery in a patient with neurofibromatosis: a case report.BACKGROUND: Vascular involvement in neurofibromatosis type 1 (NF1) is well recognized; however, rupture of extracranial arteries rarely occurs. We present a case of NF1 with rupture of the thyrocervical trunk, which branched from the right subclavian artery. A 76-year-old woman who has numerous cafe-au-lait spots and soft tumors of the skin manifested a sudden swelling of her neck accompanied with increasing pain. Radiological examinations revealed bleeding from the artery. methods: Histological and immunohistochemical examinations were carried out using tissues that contained the affected vessel. RESULTS: Proliferation of spindle cells positive for S-100 protein was seen in the adventitia of the ruptured vessel. Intimal thickening by proliferation of fibromuscular cells was also evident with irregularity of the media. CONCLUSIONS: These findings suggest that the artery was disrupted by NF in the vascular wall. It is considered that NF in the arterial wall causes dysplasia of the smooth muscle layer in the intima and media and leads to fragility of the vessel. Twelve cases, including the present case, with rupture of extracranial arteries in NF1 have been reported in the past 10 years; two thirds of these occurred in extravisceral sites in which there is a good deal of physical movement. This suggests that a physiological factor is one of the triggers for arterial rupture, which occurs under a background of vascular fragility in NF1.- - - - - - - - - - ranking = 0.12058202915032keywords = physical (Clic here for more details about this article) |
10/17. neurofibromatosis 1: recognition and management of associated neuroblastoma.Neurofibroma and neuroblastoma both arise from the neural crest, and there has long been speculation regarding a pathogenetic relationship between them. Clinical characteristics do not necessarily distinguish these tumors, therefore the diagnosis of neuroblastoma should be considered in all children with neurofibromatosis 1 (NF-1) who have a rapidly growing or inaccessible mass. A careful physical examination, imaging studies, and urinary catecholamine measurement are indicated. In a child with NF-1 and malignancy, direct tissue examination may be necessary to differentiate malignant from nonmalignant tumor and guide therapy. Furthermore, with the significantly increased risk of certain types of childhood cancer in these patients, we recommend evaluation for this common heritable condition in all patients with malignancy.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
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