The diagnosis and management of patients with idiopathic osteolysis

Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types. We are presenting three patients with osteolysis who h...

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Main Authors:	Al Kaissi, Ali, Scholl-Buergi, Sabine, Biedermann, Rainer, Maurer, Kathrin, Hofstaetter, Jochen G, Klaushofer, Klaus, Grill, Franz
Format:	Online
Language:	English
Published:	BioMed Central 2011
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3203843/

id	pubmed-3203843
recordtype	oai_dc
spelling	pubmed-32038432011-10-29 The diagnosis and management of patients with idiopathic osteolysis Al Kaissi, Ali Scholl-Buergi, Sabine Biedermann, Rainer Maurer, Kathrin Hofstaetter, Jochen G Klaushofer, Klaus Grill, Franz Review Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types. We are presenting three patients with osteolysis who have different underlying pathological features. Detailed phenotypic assessment, radiologic and CT scanning, and histological and genetic testing were the baseline diagnostic tools utilized for diagnosis of each osteolysis syndrome. The first patient was found to have Gorham-Stout syndrome (non-heritable). The complete destruction of pelvic bones associated with aggressive upward extension to adjacent bones (vertebral column and skull base) was notable and skeletal angiomatosis was detected. The second patient showed severe and aggressive non-hereditary multicentric osteolysis with bilateral destruction of the hip bones and the tarsal bones as well as a congenital unilateral solitary kidney and nephropathy. The third patient was phenotypically and genotypically compatible with Winchester syndrome resulting in multicentric osteolysis (autosomal recessive). Proven mutation of the (MMP2-Gen) was detected in this third patient that was associated with 3MCC deficiency (3-Methylcrontonyl CoA Carboxylase deficiency). The correct diagnoses in our 3 patients required the exclusion of malignant osteoclastic tumours, inflammatory disorders of bone, vascular disease, and neurogenic arthropathies using history, physical exam, and appropriate testing and imaging. This review demonstrates how to evaluate and treat these complex and difficult patients. Lastly, we described the various management procedures and treatments utilized for these patients. BioMed Central 2011-10-13 /pmc/articles/PMC3203843/ /pubmed/21995273 http://dx.doi.org/10.1186/1546-0096-9-31 Text en Copyright ©2011 Al Kaissi et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Al Kaissi, Ali Scholl-Buergi, Sabine Biedermann, Rainer Maurer, Kathrin Hofstaetter, Jochen G Klaushofer, Klaus Grill, Franz
spellingShingle	Al Kaissi, Ali Scholl-Buergi, Sabine Biedermann, Rainer Maurer, Kathrin Hofstaetter, Jochen G Klaushofer, Klaus Grill, Franz The diagnosis and management of patients with idiopathic osteolysis
author_facet	Al Kaissi, Ali Scholl-Buergi, Sabine Biedermann, Rainer Maurer, Kathrin Hofstaetter, Jochen G Klaushofer, Klaus Grill, Franz
author_sort	Al Kaissi, Ali
title	The diagnosis and management of patients with idiopathic osteolysis
title_short	The diagnosis and management of patients with idiopathic osteolysis
title_full	The diagnosis and management of patients with idiopathic osteolysis
title_fullStr	The diagnosis and management of patients with idiopathic osteolysis
title_full_unstemmed	The diagnosis and management of patients with idiopathic osteolysis
title_sort	diagnosis and management of patients with idiopathic osteolysis
description	Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types. We are presenting three patients with osteolysis who have different underlying pathological features. Detailed phenotypic assessment, radiologic and CT scanning, and histological and genetic testing were the baseline diagnostic tools utilized for diagnosis of each osteolysis syndrome. The first patient was found to have Gorham-Stout syndrome (non-heritable). The complete destruction of pelvic bones associated with aggressive upward extension to adjacent bones (vertebral column and skull base) was notable and skeletal angiomatosis was detected. The second patient showed severe and aggressive non-hereditary multicentric osteolysis with bilateral destruction of the hip bones and the tarsal bones as well as a congenital unilateral solitary kidney and nephropathy. The third patient was phenotypically and genotypically compatible with Winchester syndrome resulting in multicentric osteolysis (autosomal recessive). Proven mutation of the (MMP2-Gen) was detected in this third patient that was associated with 3MCC deficiency (3-Methylcrontonyl CoA Carboxylase deficiency). The correct diagnoses in our 3 patients required the exclusion of malignant osteoclastic tumours, inflammatory disorders of bone, vascular disease, and neurogenic arthropathies using history, physical exam, and appropriate testing and imaging. This review demonstrates how to evaluate and treat these complex and difficult patients. Lastly, we described the various management procedures and treatments utilized for these patients.
publisher	BioMed Central
publishDate	2011
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3203843/
_version_	1611484295816282112

The diagnosis and management of patients with idiopathic osteolysis

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