How Common Are Skeletal Problems in Neurofibromatosis Patients?
Discussion
Neurofibromatosis Type 1 (NF1) is one of many neurocutaneous diseases. Also called phacomatosis, a review can be found at: What is the Epidemiology and Genetics of the Major Phacomatoses?
The key elements of NF1 and 2 are:
Neurofibromatosis Type 1
Epidemiology: 1:2500-3000 – most common phacomatosis
Genetics: autosomal dominant with variable penetrance, associated with chromosome 17
Neurological: various central nervous system tumors especially neurofibromas (often benign but may act malignant because of location or size, tumors may also degenerate into a malignant variant or cause other problems such as hypothalamic problems secondary to an optic chiasm tumor ), optic nerve tumors, pheochromocytomas, mental retardation
Dermatological: neurofibromas, cafe-au-lait spots
Other clinical features: Lisch nodules of eye, other congenital anomalies may be associated including bone (rib, vertebra) and renal artery stenosis.
Radiological features: lesions tend to be more scattered in brain and more peripheral than tuberous sclerosis
Neurofibromatosis Type 2
Epidemiology: 1-33,000-40,000
Genetics: autosomal dominant with variable penetrance, associated with chromosome 22
Neurological: bilateral vestibular nerve schwannomas, brain meningiomas and dorsal root schwannomas
Dermatological: various skin changes can be seen but are less consistently associated
Other clinical features: eye lens opacities
Learning Point
Skeletal lesions in NF1 patients are often...
Source: PediatricEducation.org - Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized Source Type: news
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