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Saturday, February 5, 2011

NEUROFIBROMATOSIS (Von Reckilinghausen disease)

Neurofibromatosis, another autosomal dominant neurocutaneous disorder, is characterized by cafe-au-lait spots (irregular hyper pigmented areas: more than 6 spots, each measuring at least 1.5 cm.),
axillary freckling (crowe sign) and speckled hyperpigmentation and, later in childhood, neurofibromas involving skin, subcutaneous tissue, oral mucosa, musculoskeletal system, GIT, eyes, and CNS leading in to a variety of manifestations. Incidence of congenital malformations and neural tumors, such as pheochromocytoma, meningioma and glioma of optic chiasma nad nerve, and sarcomas is increased. Mental retardation, though mild, is a common acomapaniment.

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