نتایج جستجو برای: phakomatosis pigmentovascularis
تعداد نتایج: 132 فیلتر نتایج به سال:
DEAR EDITOR, GNA11 and GNAQ are highly homologous genes encoding different Ga subunits of heterotrimeric G-proteins. We recently described postzygotic activating mutations in GNA11 or GNAQ as causes of phakomatosis pigmentovascularis (PPV), and GNAQ mosaicism as a cause of extensive dermal melanocytosis (EDM). GNAQ mosaicism has previously been found to cause Sturge–Weber syndrome (SWS) and iso...
Two cases of Lhermitte-Duclos disease (LDD), one associated with Cowden's disease, are reported. Both demonstrated recurrence long after initial surgical resection. There is a propensity for occurrence in the left cerebellar hemisphere. On MR there is hypointensity on T1-weighted images and moderately high signal on T2-weighted images, with parallel linear striations on the surface of the lesio...
Tuberous sclerosis is a known phakomatosis and the associated finding of a subependymal giant cell astrocytoma is common with this disorder. A case of tuberous sclerosis with a finding not previously reported, i.e. that of a pleomorphic xanthoastrocytoma, is presented here.
Sturge –Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a sporadic,congenital phakomatosis of unknown etiology.Diagnosed by the triad of facial port wine stain(PWS) in the trigeminal nerve distribution, leptomeningeal venous angiomatosis ,and glaucoma. Bilateral Sturge-Weber Syndrome is a rare entity. We present in this report a rare case of bilateral SWS type II , with PWS involvin...
Neurofibroma of the scalp are mostly multiple as part of neurofibromatosis or other phakomatosis. De novo solitary types are less common and rarely erode the skull, unlike the intracranial counterpart. Skull erosion has been reported in adults with longstanding plexiform neurofibromas. We report a giant neurofibroma on the scalp of a five-year-old boy, managed in our center. Although this condi...
The Schimmelpenning-Feuerstein-Mims (SFM) syndrome is a rare phakomatosis which comprises a nevus sebaceous of Jadassohn, seizures and developmental delay associated with a wide spectrum of extracutaneous abnormalities including neurological, skeletal, ocular, cardiovascular and urogenital defects. We are presenting a case of an 18-year-old patient with systemic features of the SFM syndrome and...
It is very fortunate that two, and sometimes three, sessions of the Séminaire Lotharingien have been held every year since its beginning in 1980. Otherwise, several of us, at least the confirmed optimists, would have witnessed the jubilee in Paradise! Anyway, this is a great privilege to have all of you here, at the Domaine Saint-Jacques, a place regarded as a valeur sûre by the younger generat...
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