ALL THE DIAGNOSTIC CRITERIA OF NEUROFIBROMATOSIS TYPE-1 IN ONE FAMILIALCASE

B. B. Sheikh, S. Fatima, M.A. Memon, K. Pitafi

Abstract


Neurofibromatosis also known as von Recklinghausens disease, is an autosomal dominant condition caused by mutation, of the neurofibromatosis gene. The neurofibromatosis gene is located at chromosome 17q11.2. The expression and features of this genetic disorder are variable. The diagnosis of neurofibromatosis is based on the established criteria of National Institute of Health Conference and are met by an individual who demonstrates two or more of the criteria. This study demonstrate more than six well developed unique signs, and a huge plexiform of right arm world wide. The huge plexiform of arm with all its complications, disfigurement, and discomfort ness at its superlative degree of botheration. The familial case show Lisch nodules, glycoma, café-au-lait spots, skin freckling, café- au-lait bands, groin freckling, body tumors of different types and shape, bands of pendactile tumors, sprouting tumors, skeletal deformities, short stature, sever photophobia. and a very huge multilobular plexiform of several kg, weight with all its complications (Follow up study case). 


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