neurofibromatosis (von Recklinghausen's disease)
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Introduction
Ricardi's classification:
- classic: type 1
- neurofibromas
- cafe-au-lait spots
- Lisch nodules of the iris
- axillary freckling (Crowe's sign)
- positive family history
- chromosome 17q11.2 mutation
- central: type 2
- bilateral acoustic neuromas
- few neurofibromas
- few cafe-au-lait spots
- no Lisch nodules
- positive family history
- chromosome 22q12 mutation
- mixed:
- features of classic (type 1) & central (type 2)
- central nervous system tumors
- positive family history
- variant
- diffuse cafe-au-lait spots
- neurofibromas
- central nervous system tumors may or may not be present
- variable family history
- segmental or dermatomal[2]
- neurofibromas or cafe-au-lait spots
- skin involvement only
- negative family history
- dermatomal distribution
- multiple cafe-au-lait spots
- skin involvement only
- no neurofibromas
- negative family history
- late onset: cutaneous disease for > 30 years
- other: clinical syndromes not fitting 1-7
Epidemiology
1 in 3000 births
Pathology
- central nervous system tumors
- other associated tumors
Genetics
- autosomal dominant inheritance
- 50% of cases represent new mutations
Diagnostic criteria
(includes 2 or more of the following)
- six or more cafe-au-lait macules > 0.5 cm in greatest diameter in prepubertal patients, or > 1.5 cm in adults
- two or more neurofibromas of any type, or one plexiform neurofibroma
- freckling of skin in axillary or inguinal regions
- optic gliomas
- Lisch nodules of the iris
- an osseous lesion
- sphenoid dysplasia
- thinning of long bone cortex
- or other osseous lesion with or without pseudoarthrosis
- first degree relative with neurofibromatosis
Laboratory
Complications
- 3-5% of tumors beccome malignant
- hearing loss may result from complete excision of tumors in vicinity of cranial nerve 8
Management
- symptomatic & supportive
- prognosis
- most cases mild with patients leading normal lives
- tumors determine prognosis
More general terms
More specific terms
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 175
- ↑ 2.0 2.1 Ma DL, Hu J Segmental Neurofibromatosis N Engl J Med 2015; 372:963. March 5, 2015 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/25738672 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMicm1403193
- ↑ NINDS Neurofibromatosis Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Neurofibromatosis-Information-Page