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76th Annual Meeting of the German Society of Oto-Rhino-Laryngology, Head and Neck Surgery

German Society of Oto-Rhino-Laryngology, Head and Neck Surgery

04.05. - 08.05.2005, Erfurt

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Vanishing Bone Disease mimiking Neurofibromatosis 2 or an enlarged chronic Osteomyelitis of the skull base

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  • corresponding author Caroline Rattenhuber - Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
  • Ralf Birkenhäger - Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
  • C. P. Adler - Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
  • M. Uhl - Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
  • Roland Laszig - Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
  • Gerd Ridder - Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
  • Antje Aschendorff - Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
  • Jörg Schipper - Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg

Deutsche Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie. 76. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e.V.. Erfurt, 04.-08.05.2005. Düsseldorf, Köln: German Medical Science; 2005. Doc05hno386

The electronic version of this article is the complete one and can be found online at: http://www.egms.de/en/meetings/hno2005/05hno227.shtml

Published: September 22, 2005

© 2005 Rattenhuber et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.

Outline

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Case: A 44 year old male was admitted in may 2004 in our clinic with enlarged osteolyses of the skull base and the cranial cervical region. The patient became deaf in the last 5 years and suffered multiple paralysis of cranial nerves.

At the beginning of the disease (5 years ago) 2 operations for histological samples were performed (an exploration of the occipital skull left and a transmastoidal labyrinthektomy right) showing signs of chronic inflammation.

Diagnostic findings: The radiological picture gave the impression of a very rare disease: a Vanishing Bone Disease (also known as Gorham-Stout Disease). A reanalysis of the histological samples was performed showing parts of a schwannoma, but not the typical picture of a vanishing bone disease. In the case of bilateral schwannomas of the vestibular nerve the patient would suffer a Neurofibromatosis 2. NF 2 is inherited in an autosomal dominant pattern. The gene is localised on chromosome 22 and consists of 17 exons. In about 30% of the NF2 cases the gene mutation is only detectable in the tumor tissue (mosaik).

The family history of the patient showed no disposition for NF2. We performed a direct sequencing of the encoding exons and the promoter region of the NF2 gene to possibly identify a de novo mutation.

Results: We detected no mutation in the patients‘ NF2 gene.

The clinical, histological and molecularbiological findings lead to the 3 following differential diagnosis: Vanishing Bone Disease, NF2 and enlarged chronic osteomyelitis . This case may represents a combination of these three diseases or a new entity of disease because the findings do not match the typical profile of one of these diseases.