Cases reported "Neurofibromatoses"

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1/4. Segmental neurofibromatosis in association with nevus sebaceus of Jadassohn.

    We describe an unusual case involving the simultaneous occurrence of segmental neurofibromatosis (Type V NF) in a patient with a large nevus sebaceus of Jadassohn in the same physical distribution. Causative mechanisms of development of these 2 genetic disorders have not been definitively linked. Factors producing these diseases probably involve similar tissues at the same point in development because both have been reported in association with central nervous system anomalies and have been classified among the neurocutaneous syndromes. This is a case of a nevus sebaceus occurring in association with and in the same physical distribution as segmental NF. These disorders most likely represent a spectrum of disease within the phakomatoses.
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keywords = physical
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2/4. A case of multiple schwannomas of the trigeminal nerves, acoustic nerves, lower cranial nerves, brachial plexuses and spinal canal: schwannomatosis or neurofibromatosis?

    In most cases, while schwannoma is sporadically manifested as a single benign neoplasm, the presence of multiple schwannomas in one patient is usually indicative of neurofibromatosis 2. However, several recent reports have suggested that schwannomatosis itself may also be a distinct clinical entity. This study examines an extremely rare case of probable schwannomatosis associated with intracranial, intraspinal and peripheral involvements. A 63-year-old woman presented with a seven-year history of palpable lumps on both sides of the supraclavicular area and hearing impairment in both ears. On physical examination, no skin manifestations were evident. Facial sensory change, deafness in the left ear and decreased gag reflex were revealed by neurological examination. magnetic resonance imaging revealed multiple lesions of the trigeminal nerves, acoustic nerves, lower cranial nerves, spinal accessory nerve, brachial plexuses, and spinal nerves. Pathological examination of tumors from the bilateral brachial plexuses, the spinal nerve in the T8 spinal position and the neck mass revealed benign schwannomas. Following is this patient case report of multiple schwannomas presenting with no skin manifestations of neurofibromatosis.
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keywords = physical
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3/4. A case of the elephant man phenotype with giant rhinophyma and benign symmetric lipomatosis.

    We described an unusual male patient with two disfiguring diseases, benign symmetric lipomatosis and giant rhinophyma, which gave him a grotesque appearance. His physical appearance had isolated him from the rest of society and was probably the main reason for his alcohol abuse.
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keywords = physical
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4/4. A 9-year-old girl with a bowed right forearm 6 months after a fracture.

    The following case is presented to illustrate the roentgenographic and clinical findings of a condition of interest to the orthopedic surgeon. Initial history, physical findings, and roentgenographic examinations are found on the first page. The final clinical and roentgenographic differential diagnoses are presented on the following pages.
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keywords = physical
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