Lisch nodule
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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
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3] Swathi Venkatesan, M.B.B.S.[4]
Diagnosis
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [5] Swathi Venkatesan, M.B.B.S.[6]
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
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [7] Swathi Venkatesan, M.B.B.S.[8]
- There is no treatment for the underlying disease nor any necessity to treat these small benign lesions which do not interfere with visual function, but lifelong monitoring is necessary because of the widespread manifestations and serious threat of complications such as visual impairment, renal hypertension and ischemia of major organs.
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.