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neurofibromatosis (classic) type 1
Epidemiology:
- one of the most frequent autosomal dominant diseases (about 1 in 3000)
Pathology:
* histopathology images [3]
Genetics:
- chromosome 17q11.2 mutation
- associated with defects in neurofibromin
- autosomal dominant diseases, exhibits full penetrance by the age of 5 years & a high mutation rate with 30 to 50% of NF1 patients representing a new mutation
Clinical manifestations:
1) neurofibromas
2) cafe-au-lait spots
3) Lisch nodules of the iris
4) axillary freckling (Crowe's sign)
* images [2,3]
Laboratory: PCR/southern blot
Related
neurofibromatosis type 1 [NF1] protein or neurofibromin
neurofibromatosis-1 genotyping
Specific
Watson syndrome
General
neurofibromatosis (von Recklinghausen's disease)
Properties
ASSOCIATED-NEOPLASM[S]: pheochromocytoma
meningioma
glial neoplasm (glioma)
:SITE optic nerve (CN II, ON)
vestibular schwannoma
neurofibroma
malignant nerve sheath tumor
rhabdomyosarcoma
carcinoid
:SITE duodenum
parathyroid adenoma
Database Correlations
OMIM 162200
References
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed)
Lippincott-Raven, Philadelphia, 1998, pg 175
- Hsieh DT, Kao A (images)
Medscape: Neurofibromatosis Type 1
http://emedicine.medscape.com/article/1177266-overview
- Helm MF, Elston DM (images)
Medscape: Dermatologic Manifestations of Neurofibromatosis Type 1