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Osteologie 2009; 18(04): 276-284
DOI: 10.1055/s-0037-1619904
Seltene Knochenerkrankungen
Schattauer GmbH

Die Gorham-Stout-Erkrankung

Gorham-Stout-Disease
L. Seefried
1   Muskuloskelettales Centrum Würzburg, Universität Würzburg, Orthopädische Klinik König-Ludwig-Haus
,
R. Ebert
1   Muskuloskelettales Centrum Würzburg, Universität Würzburg, Orthopädische Klinik König-Ludwig-Haus
,
S. Bau
1   Muskuloskelettales Centrum Würzburg, Universität Würzburg, Orthopädische Klinik König-Ludwig-Haus
,
W. Kenn
2   Institut für Röntgendiagnostik, Universitätsklinikum Würzburg
,
J. Zustin
3   Institut für Pathologie, Universitätsklinikum Hamburg-Eppendorf
,
M. Rudert
1   Muskuloskelettales Centrum Würzburg, Universität Würzburg, Orthopädische Klinik König-Ludwig-Haus
,
F. Jakob
1   Muskuloskelettales Centrum Würzburg, Universität Würzburg, Orthopädische Klinik König-Ludwig-Haus
› Author Affiliations
Further Information

Publication History

eingereicht: 14 October 2009

angenommen: 15 October 2009

Publication Date:
30 December 2017 (online)

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Zusammenfassung

Die Gorham-Stout-Erkrankung (Gorham-Stout-Disease / GSD) ist charakterisiert durch eine spontane, massive, in der Regel monozentrische Osteolyse, häufig koinzident mit einer lokalen Proliferation kleiner Blut- und/oder Lymphgefäße. Als eigenständige Entität wurde das Krankheitsbild erstmals 1954 beschrieben. Die Erkrankung ist mit etwa 200 in der Literatur beschriebenen Fällen sehr selten und ihre Pathogenese ist bis heute weitestgehend unklar. Diskutiert wird eine Hämangio-/Lymphangiomatose mit konsekutiver Zerstörung des Knochens sowie eine osteoklastäre Überstimulation mit reaktiver, meist von vaskulären Strukturen durchsetzter fibröser Proliferation. Ausgangspunkt können grundsätzlich alle Skelettbereiche sein mit progredientem, auch gelenkübergreifendem Befall benachbarter Knochenund Weichteilstrukturen. Prädilektionsstellen sind der Schultergürtel, das Becken sowie der Kieferbereich. Die Symptome treten oft erst spät auf und sind eher unspezifisch mit uncharakteristischen Schmerzen, Schwellungen oder pathologischen Frakturen. Die Diagnose wird anhand der klinischen, laborchemischen, radiologischen und histopathologischen Befunde nach Ausschluss anderer Ursachen einer lokalen Osteolyse gestellt. Ein etabliertes Therapieverfahren existiert nicht. Wiederholt angewandte Maßnahmen sind die Strahlentherapie und die Gabe von Interferon α-2b zur Unterbindung der vaskulären Proliferationen, Bisphosphonate und Vitamin D zur Stabilisierung des Knochens sowie chirurgische Verfahren zur Entfernung der Läsionen und funktionellen Rekonstruktion. Die prognostische Bandbreite reicht von spontanem Sistieren der Erkrankung bis hin zu komplikativen Verläufen mit hoher Letalität.

Summary

Gorham-Stout Disease is characterised by spontaneous, massive, usually monocentric os- teolysis, frequently involving local proliferation of small blood or lymph vessels. It was first specified as a discrete medical entity in 1954. With about 200 cases reported in the literature, the illness is very rare and its pathogenesis is still widely elusive. Common hypotheses propose hemangiomatosis/lymphangiomatosis with consecutive deterioration of bone as well as overstimulation of osteoclasts with reactive proliferation of fibrous, usually vascularised tissue. Generally, the disease may start at any site of the skeleton with progressive affection of adjacent bones and soft tissue. Common sites include shoulder girdle, pelvis and the jaw. Symptoms often occur tardily and are rather unspecific with pain, swelling or pathologic fractures. Diagnosis is based on laboratory, radiological and histopathological findings and confirmed by exclusion of other causes of local osteolysis. There is no standardized, established therapeutic procedure. Commonly applied measures comprise radiation therapy and administration of interferon α-2b to suppress vascular proliferation, bisphosphonates and vitamin D to stabilize boney structures as well as surgical procedures for removal of affected tissue and – if necessary – functional reconstruction. Prognosis ranges from spontaneous cessation of the disease process to complicated courses with a high rate of lethality.

Schlüsselwörter

Gorham-Stout-Erkrankung - Vanishing Bone Disease - Massive Osteolysis - Idiopathic Osteolysis

Keywords

Gorham-Stout Disease - Vanishing Bone Disease - Massive Osteolysis - Idiopathic Osteolysis
 

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