Neurofibromatosis最新文献

Four patients with Proteus syndrome are reported; 3 of the 4 died of unusual causes. Current findings of the syndrome are reviewed, and the present state of its delineation is assessed with emphasis on what is known about natural history. Differential diagnosis includes neurofibromatosis, Klippel-Trénaunay-Weber syndrome, Maffucci syndrome, epidermal nevus syndrome, and the combination of Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcaba-Myhre syndrome, now thought to constitute a single disorder. Conditions that may possibly overlap with Proteus syndrome--encephalocraniocutaneous lipomatosis and Thanos syndrome--receive special attention. Various suggested diagnoses for the elephant man's disorder are evaluated, and it is concluded that he suffered from Proteus syndrome, not neurofibromatosis. Finally, the psychosocial significance of elephant fever (EF) is discussed, and a plea is made for taking the EF out of NF.

A schematic diagram depicting the full spectrum of clinical features of von Recklinghausen neurofibromatosis (NF-1) is presented.

The Neurofibromatosis Clinic of the Children's Hospital of Philadelphia is a multidisciplinary clinic that provides a setting in which the diagnosis of neurofibromatosis can be made and follow-up of children with neurofibromatosis coordinated. It also offers genetic counseling to affected individuals and families. The Clinic acts as a referral center to the subspecialty disciplines when such specialty services are required. This report outlines the organization and operation of the Children's Hospital of Philadelphia Neurofibromatosis Clinic. It discusses the protocol used to evaluate the pediatric patient with neurofibromatosis and the importance of continuity of care for the patients and families.

The notion that vascular alterations represent a major feature of the pathogenesis of neurofibromatosis (NF) has been supported by an increasing number of observations. We present data about skin Morgan angiomas in the general US white population and a cohort of patients with NF-1 and their unaffected relatives. Among patients with NF-1, angiomas were significantly more common, but not so among unaffected relatives. The striking nature of skin angiomas in some patients is illustrated by a mother-daughter pair with innumerable lesions of early onset. The mother also had a large venous angioma and a constriction of the siphon of an internal carotid artery.

A translocation was found in members of a family with intestinal neurofibromatosis, a rare dominant disorder phenotypically distinct from von Recklinghausen neurofibromatosis. The translocation was reciprocal between chromosomes 12 and 14. Four of 5 family members carrying the gene for intestinal neurofibromatosis had the translocation. This may be due to change alone or linkage of the gene for intestinal neurofibromatosis to one of the translocation breakpoints in chromosome bands 12q13 and 14q13.

Mast cells are in close contact with other cells in neurofibromatosis, e.g. neural cells and fibroblasts. Secretory products of mast cells may be important in the regulation of collagen synthesis by fibroblasts and Schwann cells. Newer methods of detecting mast cells by avidin staining of granules and localization of membrane Fc receptors for IgE have been exploited in at least one experimental model of fibrosis (murine chronic graft-versus-host disease). Such approaches should help in understanding parameters involved in modulation of cell growth in neurofibromas. Future directions for the study of cellular dynamics in neurofibromas should include detection of activated (degranulated) mast cells, Schwann cells and effects of mast cell products on collagen gene expression.