What Neoplasms are Patients with Neurofibromatosis At Risk For?
Discussion
Neurofibromatosis Type 1 (NF1) is one of many neurocutaneous diseases with a probable underestimated incidence of 1:3000. Also called phacomatoses, a review can be found at: What is the Epidemiology and Genetics of the Major Phacomatoses?
The key elements of NF1 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
Patients with NF1 may have a variety of health problems including:
Attention deficit disorder
Benign and malignant neoplasms
Learning problems
Hypertension
Life span decreased by approximately 8 years
Macrocephaly
Orthopaedic problems – including osteoporosis and scoliosis, see also How Common Are Skeletal Problems in Patients with Neurofibromatosis?.
Short stature overall, precocio...
Source: PediatricEducation.org - Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
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