A CASE OF FACIAL ASYMMETRY Neurofibromatosis type 1 with subcutaneous mass in occipital region, bilateral lisch nodules of iris and cafe- au- lait spots
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Köksal Yuca 1 * , Nebi Yılmaz 2, Adnan Çınal 3, Ömer Etlik 4, Muzaffer Kırış 1
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1 Yüzüncü Yıl University, Medical School, Department of Otorhinolaryngology, Van, Turkey
2 Yüzüncü Yıl University, Medical School, Department of Neurosurgery, Van, Turkey
3 Yüzüncü Yıl University, Medical School, Department of Ophthalmology, Van, Turkey
4 Yüzüncü Yıl University, Medical School, Department of Radiology, Van, Turkey
* Corresponding Author

Abstract

Neurofibromatosis type 1 (NF1) has been a well-documented and described disease process since 1882, when it was first described by Friedrich von Recklinghausen (1). NF1 is a multisystem hamartomatous disorder with protean expression of cutaneous, neurologic, skeletal, visceral, and ocular manifestations (2). Children and adolescents with NF1 have a high incidence of CNS anomalies (3). Lisch nodules are a component of NF1 and, when present, are included in the clinical diagnostic criteria for NF1 but as an isolated finding are not considered diagnostic.

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Article Type: Letter to Editor

https://doi.org/10.29333/ejgm/82341

EUR J GEN MED, 2005 - Volume 2 Issue 4, pp. 180-181

Publication date: 15 Oct 2005

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