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1/352. oral manifestations of idiopathic lenticular mucocutaneous pigmentation (Laugier-Hunziker syndrome): a clinical, histopathological and ultrastructural review of 12 cases.

    OBJECTIVE: To present a clinical, histopathological and ultrastructural study on a group of patients affected by idiopathic mucocutaneous pigmentation (Laugier-Hunziker syndrome: LHS). MATERIALS AND methods: Twelve patients were investigated: clinical examination, laboratory tests, and X-ray studies together with light microscopy and electron microscopy were performed in order to diagnose LHS. RESULTS: All cases showed acquired, benign, macular hyperpigmentation of buccal mucosa lips and nails. Histologically, pigmentations are due to an accumulation of melanin in the basal layer keratinocytes and an increase in the number of melanophages in the submucosa and/or papillary dermis. Ultrastructurally there were increased numbers of normal-appearing melanosomes in keratinocytes of the lower epithelium. No evidence of malignant changes were detected. CONCLUSIONS: The importance of this condition relates to it being included in the differential diagnoses of pigmentary disorders of the oral mucosa with associated nail involvement. It is important to recognize this acquired benign disorder to avoid unnecessary investigations and treatments.
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2/352. Systemic sarcoidosis and cutaneous lymphoma: is the association fortuitous?

    The association of systemic sarcoidosis and malignant lymphoma is known as the 'sarcoidosis-lymphoma syndrome'. Cutaneous involvement is rare in this syndrome. We report a 52-year-old woman who was diagnosed as having tumour-stage mycosis fungoides. Complete remission was achieved by combination therapy consisting of isotretinoin, interferon (IFN) alpha, electron beam irradiation, photochemotherapy and topical corticosteroids. Three years later, the patient developed systemic sarcoidosis characterized by yellowish papules on the abdominal wall and the eyelids that histologically revealed non-caseating granulomas, multiple fine-nodular interstitial pulmonary infiltrates on chest X-ray, hilar lymphadenopathy, decreased vital capacity and increased lymphocyte count in bronchoalveloar lavage fluid. As opposed to most of the reported cases, in our patient the manifestation of cutaneous lymphoma preceded the diagnosis of systemic sarcoidosis. We review the cases reported in the literature and discuss a possible causal and temporal relationship as well as the role of IFN alpha in the development of sarcoidosis.
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3/352. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.

    plectin, an intermediate filament linking protein, is normally associated with the sarcolemma, nuclear membrane, and intermyofibrillar network in muscle, and with hemisdesmosomes in skin. A 20-year-old female with epidermolysis bullosa simplex since birth had progressive ocular, facial, limb, and trunkal weakness and fatigability since age 9, fivefold CK elevation, a 25% decrement with myopathic motor unit potentials and increased electrical irritability on electromyography, and no anti-acetylcholine receptor (AChR) antibodies. plectin expression was absent in muscle and severe plectin deficiency was noted in skin. Morphologic studies revealed necrotic and regenerating fibers and a wide spectrum of ultrastructural abnormalities: large accumulations of heterochromatic and lobulated nuclei, rare apoptotic nuclei, numerous cytoplasmic and few intranuclear nemaline rods, disarrayed myofibrils, thick-filament loss, vacuolar change, and pathologic alterations in membranous organelles. Many endplates (EPs) had an abnormal configuration with chains of small regions over the fiber surface and a few displayed focal degeneration of the junctional folds. The EP AChR content was normal. in vitro electrophysiologic studies showed normal quantal release by nerve impulse, small miniature EP potentials, and fetal as well as adult AChR channels at the EP. Our findings support the notion that plectin is essential for the structural integrity of muscle and skin, and for normal neuromuscular transmission.
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4/352. Positron emission tomography in juvenile alexander disease.

    A 13-year-old boy with cervical kyphosis was diagnosed as having juvenile alexander disease because of the typical MRI findings, abnormally elevated alphaB-crystallin and heat shock protein 27 in the cerebrospinal fluid. Positron emission tomography with 18F-fluorodeoxyglucose demonstrated hypometabolism in the frontal white matter corresponding to the areas with leukodystrophy. However, the overlying gray matter preserved normal glucose metabolism.
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5/352. Diagnosis of Chilaiditi's syndrome with abdominal ultrasound.

    Chilaiditi's sign is a radiographic term used when the hepatic flexure of the colon is seen interposed between the liver and right hemidiaphragm. When symptomatic, this is Chilaiditi's syndrome. We report a case of a 70-year-old man who presented with abdominal pain, vomiting, singultus and constipation. Ultrasound was initially performed which showed an intestinal loop between the anterior surface of the right liver lobe and the diaphragm. The chest X-ray revealed colon gas under the right diaphragma and the abdominal CT-scan confirmed the hepatodiaphragmatic interposition of the colon. Colonic elongation and laxity of colonic and hepatic suspensory ligaments are the principal predisposing factors. The advantages of the abdominal ultrasound in the diagnosis and follow-up as well as possible complications and forms of therapy with this syndrome are discussed.
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6/352. Functional magnetic resonance imaging in spontaneous attacks of SUNCT: short-lasting neuralgiform headache with conjunctival injection and tearing.

    A 71-year-old woman presented with a short history of episodes of severe left-sided orbital and temporal pain in paroxysms lasting 60 to 90 seconds, and accompanied by ipsilateral lacrimation of the eye, rhinorrhea, and conjunctival injection. Results of clinical examination and structural imaging were normal and a clinical diagnosis of SUNCT (short-lasting unilateral neuralgiform pains with conjunctival injection and tearing) was made. The patient had a BOLD contrast-magnetic resonance imaging study in which significant activation was seen in the region of the ipsilateral hypothalamic gray, comparing the pain to pain-free state. The region of activation was the same in this patient as has been reported in acute attacks of cluster headache.
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7/352. Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

    We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.
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8/352. Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?

    We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males.
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9/352. Bilateral frontoparietal polymicrogyria and epilepsy.

    Two patients with bilateral frontoparietal polymicrogyria are reported. Severe developmental delay, mental retardation, spastic tetraplegia, and seizures were the main clinical features. magnetic resonance imaging revealed a bilateral thick cortex with irregular gyri and a festoonlike gray-white matter junction. Bilateral frontoparietal polymicrogyria may represent a further form of the bilateral polymicrogyria syndromes in addition to perisylvian and parasagittal parieto-occipital polymicrogyria.
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10/352. Right-sided pleural effusion in spontaneous esophageal perforation.

    Spontaneous esophageal perforation (Boerhaave's syndrome) is a rare clinical entity in which overindulgence in a large meal precedes vomiting and chest pain. early diagnosis and aggressive management are keys to minimizing the morbidity and mortality. We report an unusual presentation of this already uncommon occurrence in a 33-year-old female. She presented to the Emergency Department with severe chest pain following vomiting with hematemesis after a large meal. The initial chest radiograph showed up nothing in particular. dyspnea developed two days later, and a right-sided pleural effusion was seen on chest x-ray. Panendoscopy was highly suggestive of Boerhaave's syndrome. She underwent emergency operation. After three months of hospital care, she was discharged in relatively good condition. This case of right-sided pleural effusion extends the reported description of Boerhaave's syndrome.
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ranking = 1.0112122783829
keywords = ray, x-ray
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