Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009

Orphanet Journal of Rare Diseases. 2010;5(1):3 DOI 10.1186/1750-1172-5-3

 

Journal Homepage

Journal Title: Orphanet Journal of Rare Diseases

ISSN: 1750-1172 (Online)

Publisher: BMC

Society/Institution: Orphanet

LCC Subject Category: Medicine

Country of publisher: United Kingdom

Language of fulltext: English

Full-text formats available: PDF, HTML

 

AUTHORS

Forin Véronique
Houdoin Véronique
Revillon Yann
Wendling Daniel
Pin Isabelle
de Blic Jacques
Mary Pierre
Boccon-Gibod Liliane
Ouache Marie
Léonard Jean-Claude
Bost-Bru Cécile
Chastagner Pascal
Carrie Christian
Bertrand Yves
Ziade Makram
de Courtivron Benoit
Gillibert-Yvert Marion
Bigorre Michèle
Jaubert Francis
Le Merrer Martine
Héritier Sébastien
Lepointe Hubert
Languepin Jane
Wagnon Jeanne
Epaud Ralph
Fauroux Brigitte
Donadieu Jean

EDITORIAL INFORMATION

Blind peer review

Editorial Board

Instructions for authors

Time From Submission to Publication: 16 weeks

 

Abstract | Full Text

<p>Abstract</p> <p>Objective</p> <p>To document the epidemiological, clinical, histological and radiological characteristics of aggressive vascular abnormalities of bone in children.</p> <p>Study design</p> <p>Correspondents of the French Society of Childhood Malignancies were asked to notify all cases of aggressive vascular abnormalities of bone diagnosed between January 1988 and September 2009.</p> <p>Results</p> <p>21 cases were identified; 62% of the patients were boys. No familial cases were observed, and the disease appeared to be sporadic. Mean age at diagnosis was 8.0 years [0.8-16.9 years]. Median follow-up was 3 years [0.3-17 years]. The main presenting signs were bone fracture (n = 4) and respiratory distress (n = 7), but more indolent onset was observed in 8 cases. Lung involvement, with lymphangiectasies and pleural effusion, was the most frequent form of extraosseous involvement (10/21). Bisphosphonates, alpha interferon and radiotherapy were used as potentially curative treatments. High-dose radiotherapy appeared to be effective on pleural effusion but caused major late sequelae, whereas antiangiogenic drugs like alpha interferon and zoledrenate have had a limited impact on the course of pulmonary complications. The impact of bisphosphonates and alpha interferon on bone lesions was also difficult to assess, owing to insufficient follow-up in most cases, but it was occasionally positive. Six deaths were observed and the overall 10-year mortality rate was about 30%. The prognosis depended mainly on pulmonary and spinal complications.</p> <p>Conclusion</p> <p>Aggressive vascular abnormalities of bone are extremely rare in childhood but are lifethreatening. The impact of anti-angiogenic drugs on pulmonary complications seems to be limited, but they may improve bone lesions.</p>