gms | German Medical Science

76. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e. V.

Deutsche Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e. V.

04.05. - 08.05.2005, Erfurt

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

Meeting Abstract

  • 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

Die elektronische Version dieses Artikels ist vollständig und ist verfügbar unter: http://www.egms.de/de/meetings/hno2005/05hno227.shtml

Veröffentlicht: 22. September 2005

© 2005 Rattenhuber et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielf&aauml;ltigt, verbreitet und &oauml;ffentlich zug&aauml;nglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

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.