Lisch nodule: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
{{CMG}}{{Swathi}} | |||
==History & Symptoms== | |||
'''Diagnostic Criteria for neurofibromatosis 1'''<ref name="FernerHuson2006">{{cite journal|last1=Ferner|first1=R. E|last2=Huson|first2=S. M|last3=Thomas|first3=N.|last4=Moss|first4=C.|last5=Willshaw|first5=H.|last6=Evans|first6=D G.|last7=Upadhyaya|first7=M.|last8=Towers|first8=R.|last9=Gleeson|first9=M.|last10=Steiger|first10=C.|last11=Kirby|first11=A.|title=Guidelines for the diagnosis and management of individuals with neurofibromatosis 1|journal=Journal of Medical Genetics|volume=44|issue=2|year=2006|pages=81–88|issn=1468-6244|doi=10.1136/jmg.2006.045906}}</ref> | |||
'''(NIH consensus development conference 1988)''' | |||
*6 or more café au lait macules (>0.5 cm in children or >1.5 cm in adults) | |||
*2 or more cutaneous/subcutaneous neurofibromas or one plexiform neurofibroma | |||
*Axillary or groin freckling | |||
*Optic pathway glioma | |||
*2 or more Lisch nodules (iris hamartomas seen on slit lamp examination) | |||
*Bony dysplasia (sphenoid wing dysplasia, bowing of long bone ± pseudarthrosis) | |||
*First degree relative with NF1 | |||
[[Lisch nodule physical examination|Physical Examination]] | |||
[[Lisch nodule laboratory tests|Laboratory Findings]] | |||
[[Lisch nodule other imaging findings|Other Imaging Findings]] | [[Lisch nodule other diagnostic studies|Other Diagnostic Studies]] | |||
==Treatment== | ==Treatment== | ||
Revision as of 12:31, 20 June 2019
For patient information, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Swathi Venkatesan, M.B.B.S.[2]
Synonyms and keywords: Sakurai-lisch nodule
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Lisch nodule from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3] Swathi Venkatesan, M.B.B.S.[4]
History & Symptoms
Diagnostic Criteria for neurofibromatosis 1[1]
(NIH consensus development conference 1988)
- 6 or more café au lait macules (>0.5 cm in children or >1.5 cm in adults)
- 2 or more cutaneous/subcutaneous neurofibromas or one plexiform neurofibroma
- Axillary or groin freckling
- Optic pathway glioma
- 2 or more Lisch nodules (iris hamartomas seen on slit lamp examination)
- Bony dysplasia (sphenoid wing dysplasia, bowing of long bone ± pseudarthrosis)
- First degree relative with NF1
Physical Examination
Laboratory Findings
Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
- ↑ Ferner, R. E; Huson, S. M; Thomas, N.; Moss, C.; Willshaw, H.; Evans, D G.; Upadhyaya, M.; Towers, R.; Gleeson, M.; Steiger, C.; Kirby, A. (2006). "Guidelines for the diagnosis and management of individuals with neurofibromatosis 1". Journal of Medical Genetics. 44 (2): 81–88. doi:10.1136/jmg.2006.045906. ISSN 1468-6244.