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neurofibromatosis (von Recklinghausen's disease)
Ricardi's classification:
1) classic: type 1
a) neurofibromas
b) cafe-au-lait spots
c) Lisch nodules of the iris
d) axillary freckling (Crowe's sign)
d) positive family history
e) chromosome 17q11.2 mutation
2) central: type 2
a) bilateral acoustic neuromas
b) few neurofibromas
c) few cafe-au-lait spots
d) no Lisch nodules
e) positive family history
f) chromosome 22q12 mutation
3) mixed:
a) features of classic (type 1) & central (type 2)
b) central nervous system tumors
c) positive family history
4) variant
a) diffuse cafe-au-lait spots
b) neurofibromas
c) central nervous system tumors may or may not be present
d) variable family history
5) segmental or dermatomal [2]
a) neurofibromas or cafe-au-lait spots
b) skin involvement only
c) negative family history
d) dermatomal distribution
6) multiple cafe-au-lait spots
a) skin involvement only
b) no neurofibromas
c) negative family history
7) late onset: cutaneous disease for > 30 years
8) other: clinical syndromes not fitting 1-7
Epidemiology: 1 in 3000 births
Genetics:
1) autosomal dominant inheritance
2) 50% of cases represent new mutations
Pathology:
1) central nervous system tumors
a) acoustic neuromas
b) optic gliomas
c) meningiomas
2) other associated tumors
a) pheochromocytoma
b) neuroblastoma
c) Wilm's tumor
Diagnostic criteria: (includes 2 or more of the following)
1) six or more cafe-au-lait macules > 0.5 cm in greatest diameter in prepubertal patients, or > 1.5 cm in adults
2) two or more neurofibromas of any type, or one plexiform neurofibroma
3) freckling of skin in axillary or inguinal regions
4) optic gliomas
5) Lisch nodules of the iris
6) an osseous lesion
a) sphenoid dysplasia
b) thinning of long bone cortex
c) or other osseous lesion with or without pseudoarthrosis
7) first degree relative with neurofibromatosis
Laboratory:
- prenatal diagnosis via amniocentesis or chorionic villus sampling
Complications:
1) 3-5% of tumors beccome malignant
2) hearing loss may result from complete excision of tumors in vicinity of cranial nerve 8
Management:
1) symptomatic & supportive
2) prognosis
a) most cases mild with patients leading normal lives
b) tumors determine prognosis
Specific
neurofibromatosis (central) type 2
neurofibromatosis (classic) type 1
NF1 microdeletion syndrome
General
hereditary neoplastic syndrome; cancer susceptibility syndrome
References
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed)
Lippincott-Raven, Philadelphia, 1998, pg 175
- Ma DL, Hu J
Segmental Neurofibromatosis
N Engl J Med 2015; 372:963. March 5, 2015
PMID: 25738672
http://www.nejm.org/doi/full/10.1056/NEJMicm1403193
- NINDS Neurofibromatosis Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Neurofibromatosis-Information-Page