Von Recklinghausen's Disease Presenting as Otolaryngologic Emergency: A Rare Occurrence

被引:0
作者
Ghosh, Debangshu [1 ,2 ]
Saha, Jayanta [3 ]
Sengupta, Shaswati [1 ]
Manickam, Ajay [4 ]
Basu, Sumit Kumar [1 ]
机构
[1] RG Kar Med Coll, Dept ENT, Kolkata, W Bengal, India
[2] Kalyan Nagar Near KG Sch,PO Kalyan Nagar,Dist 24, Kolkata 700112, W Bengal, India
[3] Burdwan Med Coll, Dept ENT, Burdwan, W Bengal, India
[4] Tata Med Ctr, Dept Head & Neck Oncosurg, Kolkata, India
关键词
Neurofibromatosis type 1; Plexiform neurofibroma; Cafe-au-lait spot; Trauma; Swelling; NEUROFIBROMATOSIS; CHILDREN;
D O I
10.1007/s12070-017-1092-7
中图分类号
R61 [外科手术学];
学科分类号
摘要
Type 1 Neurofibromatosis (NF1) is a rare autosomal dominant genetic disorder. There are seven clinical features of which two are necessary to diagnose it. Another important feature is plexiform neurofibroma which commonly presents as painful expansile lesion. Here we present a case of NF1 with huge swelling of left hemiface and chin following trauma over pre-existing swelling and presented as life threatening emergency and managed surgically.
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页码:88 / 92
页数:5
相关论文
共 8 条
[1]   Growth rate characteristics of acoustic neuromas associated with neurofibromatosis type 2 [J].
Abaza, MM ;
Makariou, E ;
Armstrong, M ;
Lalwani, AK .
LARYNGOSCOPE, 1996, 106 (06) :694-699
[2]   Generalized metabolic bone disease in neurofibromatosis type I [J].
Brunetti-Pierri, Nicola ;
Doty, Stephen B. ;
Hicks, John ;
Phan, Kelly ;
Mendoza-Londono, Roberto ;
Blazo, Maria ;
Tran, Alyssa ;
Carter, Susan ;
Lewis, Richard Alan ;
Plon, Sharon E. ;
Phillips, William A. ;
Smith, E. O'Brian ;
Ellis, Kenneth J. ;
Lee, Brendan .
MOLECULAR GENETICS AND METABOLISM, 2008, 94 (01) :105-111
[3]  
Gutmann DH., 2001, METABOLIC MOL BASES, V8th, P877
[4]   Phase I trial of pegylated interferon-α-2b in young patients with plexiform neurofibromas [J].
Jakacki, R. I. ;
Dombi, E. ;
Potter, D. M. ;
Goldman, S. ;
Allen, J. C. ;
Pollack, I. F. ;
Widemann, B. C. .
NEUROLOGY, 2011, 76 (03) :265-272
[5]  
KORF BR, 1992, PEDIATRICS, V90, P924
[6]   Prevalence of neurofibromatosis 1 in German children at elementary school enrollment [J].
Lammert, M ;
Friedman, JM ;
Kluwe, L ;
Mautner, VF .
ARCHIVES OF DERMATOLOGY, 2005, 141 (01) :71-74
[7]  
LEWIS RA, 1981, OPHTHALMOLOGY, V88, P348
[8]   Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1 [J].
Prada, Carlos E. ;
Rangwala, Fatima A. ;
Martin, Lisa J. ;
Lovell, Anne M. ;
Saal, Howard M. ;
Schorry, Elizabeth K. ;
Hopkin, Robert J. .
JOURNAL OF PEDIATRICS, 2012, 160 (03) :461-467