Lisch nodule: Difference between revisions
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*Bony dysplasia (sphenoid wing dysplasia, bowing of long bone ± pseudarthrosis) | *Bony dysplasia (sphenoid wing dysplasia, bowing of long bone ± pseudarthrosis) | ||
*First degree relative with NF1 | *First degree relative with NF1 | ||
The diagnosis is based on clinical assessment and two or more of the features are required. | |||
Revision as of 12:33, 20 June 2019
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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
The diagnosis is based on clinical assessment and two or more of the features are required.
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.