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Official websites use. Share sensitive information only on official, secure websites. Neurofibromatosis 1 NF1 is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families.
Progress in molecular biology and neuroimaging and the development of mouse models have helped to elucidate the aetiology of NF1 and its clinical manifestations. Furthermore, these advances have raised the prospect of therapeutic intervention for this complex and distressing disease. Members of the United Kingdom Neurofibromatosis Association Clinical Advisory Board collaborated to produce a consensus statement on the current guidelines for diagnosis and management of NF1.
The proposals are based on published clinical studies and on the pooled knowledge of experts in neurofibromatosis with experience of providing multidisciplinary clinical and molecular services for NF1 patients.
The consensus statement discusses the diagnostic criteria, major differential diagnoses, clinical manifestations and the present strategies for monitoring and management of NF1 complications. However, the different forms of neurofibromatosis were not separated and delineated until the latter part of the twentieth century tables 1, 2.
The National Institutes of Health Consensus Development Conference formulated the diagnostic criteria for neurofibromatosis 1 NF1 , underlining the pivotal involvement of the skin, bone and the nervous system in the condition table 1. NF1 has a birth incidence of 1 in to 1 in , the diagnosis is based on clinical assessment and two or more of the features in table 1 are required. These diagnostic criteria are robust and have stood the test of time well. However, the skin manifestations are in a restricted segment of the body see section on differential diagnosis.