Cases reported "Neurofibromatosis 1"

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1/82. Cranio-orbital-temporal neurofibromatosis: are we treating the whole problem?

    Cranio-orbital-temporal neurofibromatosis is an uncommon subtype of neurofibromatosis 1 characterized by pulsatile exophthalmos, orbital neurofibromas, sphenoid wing dysplasia, expansion of the temporal fossa, and herniation of the temporal lobe into the orbit. The cause of the sphenoid wing dysplasia is uncertain. Reconstruction of the sphenoid defect, separating the orbit and cranial vault, has been problematic because of resorption of bone grafts. This reports illustrates one potential cause of the sphenoid defect and a possible cause of the bone graft resorption.
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ranking = 1
keywords = dysplasia
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2/82. E.N.T. manifestations of Von Recklinghausen's disease.

    Von Recklinghausen's disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade.
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ranking = 53.519363899801
keywords = neurocutaneous
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3/82. neurofibromatosis 1 associated with embryonal rhabdomyosarcoma of the urinary bladder.

    A 10-month-old boy presented with a 6-week history of abdominal pain. The pain was due to a large, stage IV embryonal rhabdomyosarcoma of the urinary bladder. The rhabdomyosarcoma was found in association with neurofibromatosis 1 (NF1) manifesting multiple cafe au lait spots and bowing of the right calf. The diagnosis of NF1 had not been made before presentation. This case report is intended to heighten the awareness of the manifestations of NF1 and the possibility of developing a nonneuroectodermal tumor as a concomitant of NF1, and to emphasize the importance of timely diagnosis and treatment of such an NF1-associated malignancy. Reports of the epidemiologic evidence for rhabdomyosarcoma in children with NF1 are reviewed.
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ranking = 6.3793340363876
keywords = neuroectodermal
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4/82. Peripheral arterial involvement in neurofibromatosis type 1--a case report.

    Neurofibromatosis is a dominantly inherited, progressive, generalized dysplasia of mesodermal and neuroectodermal tissues. Vascular lesions associated with neurofibromatosis type 1 (NF-1) are mainly characterized by stenosis, occlusion, aneurysm, pseudoaneurysm, and rupture or fistula formation of small, medium, and large-sized arteries. The authors hereby present a rare case of NF-1 with bilateral aneurysms and large pseudoaneurysms of the femoral and popliteal arteries and occlusion of the left superficial femoral artery.
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ranking = 6.8793340363876
keywords = neuroectodermal, dysplasia
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5/82. Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.

    Neurofibromatosis type 1 (NF1) is one of the commonest autosomal dominant disorders in man. It is characterised by cafe au lait spots, peripheral neurofibromas, Lisch nodules, axillary freckling, skeletal dysplasia, and optic glioma. Symptomatic brain tumours occur in 1.5-2.2% of patients with NF1. We report here a family where seven members developed brain tumours. Of these, three have a clinical history strongly suggestive of NF1, while two do not fulfil diagnostic criteria for the disorder. A splice site mutation in exon 29 of the NF1 gene was found in these two subjects. This lesion is thought to be disease causative since it creates a frameshift and a premature termination of the neurofibromin protein. Different hypotheses to explain the unusual recurrence of brain tumours in this family, such as the nature of the mutation or cosegregation of other predisposing genes, are discussed.
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ranking = 0.5
keywords = dysplasia
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6/82. association between cutaneous melanoma and neurofibromatosis type 1: analysis of three clinical cases and review of the literature.

    The authors report a rare association between cutaneous melanoma and Von Recklinghausen's disease (NF-1) and analyze the possible meaning of this occurrence. Various types of tumors have been associated with NF-1, in particular those of neuroectodermal origin, such as malignant peripheral nerve sheath tumors (MPNST) and phaeochromocytoma. The development of malignant melanoma in NF-1 patients is rare. Data from the literature is enable to demonstrate an increased incidence of cutaneous melanoma in patients with neurofibromatosis but the association of these two disorders seems reasonable in theory, as both are abnormalities of a neural crest origin. The cases described may represent not only a clinical report of two rarely associated disorders, but may also confirm the biological mechanisms responsible for these infrequent diseases.
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ranking = 6.3793340363876
keywords = neuroectodermal
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7/82. The association of neurofibromatosis and hyperparathyroidism.

    Two patients with coexisting neurofibromatosis and hyperparathyroidism are described, bringing the total number of such cases in the world literature to seven. Other more classic examples of the association of tumorous conditions of neuroectodermal and entodermal origin are discussed to support the suggestion that the association of these two diseases may be another variant of multiple endocrine neoplasia type 2 (MEN2b). It may be clinically profitable to investigate all patients with either disease in order to uncover their coexistence.
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ranking = 6.3793340363876
keywords = neuroectodermal
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8/82. Diffuse but unilateral gingival enlargement associated with von Recklinghausen neurofibromatosis: a case report.

    BACKGROUND: An 8-year old girl was referred for diagnosis and treatment to the Department of Periodontology Oral Surgery of the University Hospital of Liege with an unusual clinical situation: a major, non-inflammatory, diffuse but unilateral enlargement of the interproximal, marginal and attached gingiva around all teeth of the right side of both the upper maxilla and mandible, whereas the alveolar process of the left side of upper and lower arches appeared strictly normal. METHOD: The clinical examination showed delayed eruption of some permanent teeth in the 1st and 4th quadrants. Except for its asymmetric occurrence, this gingival enlargement strongly resembled phenytoin-induced enlargement or gingival fibromatosis. This unilateral expression was evocative of a vascular or neurologic pathology. Several large "cafe-au-lait" spots were found disseminated on the body. Several selective surgical removals of thick gingival caps impairing the eruption of some permanent teeth were performed, and the removed tissues were histologically analyzed. RESULTS: Because of the presence of the large "cafe-au-lait" spots, a clinical diagnosis of Von Recklinghausen's disease was given and later confirmed several times by the histological analysis of the gingival biopsies. Now, 6 years later, this gingival enlargement due to the development of intra-gingival neurofibromas is stable and all permanent teeth have had a normal eruption, but alveolar bone growth has been partly impaired by the presence of the tumor. CONCLUSIONS: The present case of unilateral diffuse hyperplasia is a unique clinical expression of neurofibromatosis type I, a slowly evolving neurodermic dysplasia.
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ranking = 0.5
keywords = dysplasia
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9/82. An unusual pterygopalatine meningocele associated with neurofibromatosis type 1. Case report.

    The authors describe an unusual meningocele of the lateral wall of the cavernous sinus and the anterior skull base in a young patient with typical stigmata of neurofibromatosis Type 1 (NF1). This lesion was discovered during evaluation for recurrent meningitis. It represented an anterior continuation of Meckel's cave into a large cerebrospinal fluid space within the lateral wall of the cavernous sinus, extending extracranially through an enlarged superior orbital fissure into the pterygopalatine fossa adjacent to the nasal cavity. It was successfully obliterated, via an intradural middle fossa approach, with fat packing and fenestration into the subarachnoid space. This meningocele most likely represents a variant of cranial nerve dural ectasia occasionally seen in individuals with NF1. It has as its basis the same mesodermal defect responsible for the more common sphenoid wing dysplasia and spinal dural ectasias identified with this condition. Involvement of the trigeminal nerve with expansion of the lateral wall of cavernous sinus has not been reported previously. The authors surmise, however, that it may be present in some cases of orbital meningocele associated with sphenoid wing dysplasia.
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ranking = 1
keywords = dysplasia
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10/82. Cutaneous melanoma in a patient with neurofibromatosis.

    Although neurofibromatosis and cutaneous melanoma are both diseases of neuroectodermal origin, reports of their association are rare. The case history of a patient with histologically documented neurofibromatosis and a nodular melanoma unrelated to a cafe-au-lait spot or congenital nevus is reported, and the literature reviewed. The appearance of only one patient with neurofibromatosis in a series of 900 patients with melanoma suggests that these diseases are probably not associated with greater frequency than that predicted by chance alone.
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ranking = 6.3793340363876
keywords = neuroectodermal
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