Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Indian Journal of Otolaryngology and Head & Neck Surgery
Published in: Indian Journal of Otolaryngology and Head & Neck Surgery 1/2019

01-10-2019 | Clinical Report

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

Authors: Debangshu Ghosh, Jayanta Saha, Shaswati Sengupta, Ajay Manickam, Sumit Kumar Basu

Published in: Indian Journal of Otolaryngology and Head & Neck Surgery | Special Issue 1/2019

Login to get access

Abstract

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.
Literature
1.
Lammert M, Friedman JM, Kluwe L et al (2005) Prevalence of Neurofibromatosis 1 in German children at elementary school enrolment. Arch Dermatol 141:7CrossRef
2.
Neurofibromatosis Conference Statement (1988) National institute of health consensus development conference. Arch Neurol 45:575CrossRef
3.
Korf BR (1992) Diagnostic outcome in children with multiple café au lait spots. Paediatrics 90:924
4.
Gutmann DH (2001) Neurofibromatosis type 1. In: Scriver CR, Beaudet AL, Valle D (eds) The metabolic and molecular bases of inherited diseases. McGraw Hill, New York, p 877
5.
Prada CE, Rangwala FA, Martin LJ et al (2012) Paediatric neurofibromas impact on morbidity and mortality in Neurofibromatosis type 1. J paediatr 160:461CrossRef
6.
Lewis RA, Riccardi VM (1981) Von Recklinghausen disease incidence of iris hamartoma. Ophthalmology 88:348CrossRef
7.
Brunneti Pierri N, Doty SB, Hicks J et al (2008) Generalized metabolic bone disease in Neurofibromatosis type 1. Mol Genet Metab 94:105CrossRef
8.
Jackaki RI, Dombi E, Porter DM et al (2011) Phase 1 trial of pegylated interferon alpha 2b in young patients with plexiform neurofibromas. Neurology 76:225CrossRef
Metadata
Title
Von Recklinghausen’s Disease Presenting as Otolaryngologic Emergency: A Rare Occurrence
Authors
Debangshu Ghosh
Jayanta Saha
Shaswati Sengupta
Ajay Manickam
Sumit Kumar Basu
Publication date
01-10-2019
Publisher
Springer India
Published in
Indian Journal of Otolaryngology and Head & Neck Surgery / Issue Special Issue 1/2019
Print ISSN: 2231-3796
Electronic ISSN: 0973-7707
DOI
https://doi.org/10.1007/s12070-017-1092-7

Other articles of this Special Issue 1/2019

Indian Journal of Otolaryngology and Head & Neck Surgery 1/2019 Go to the issue

Original Article

Our Assessment Using Palate Postoperative Problems Score (PPOPS): Tool for the Evaluation of Results in Palatal Surgery Techniques

Original Article

Pectoralis Major Myocutaneous/Myofascial Flap and Split Skin Grafting for Repair of Post Laryngectomy Pharyngo Cutaneous Fistula: An Undemanding and a Reliable Solution

Original Article

A Review and Outcome of Adenoidectomy Performed in Resource Limited Settings

Clinical Report

A Sizeable Solitary Pedunculated Peripheral Osteoma of the Hard Palate: A Case Report

Original Article

A Study of Clinicopathological Profile of Salivary Gland Swellings

Original Article

A Rare Case of Locally Advanced Recurrent Neuroendocrine Tumour of Neck Salvaged by a Radical Surgical Approach