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

doi:10.1186/1750-1172-5-3

Orphanet Journal of Rare Diseases

Volume 5

Viewing options:

Abstract
Full text
PDF (2MB)
Additional files

Associated material:

Related literature:

Articles citing this article
on Google Scholar
on PubMed Central
Other articles by authors
on Google Scholar

Héritier S
Le Merrer M
Jaubert F
Bigorre M
Gillibert-Yvert M
de Courtivron B
Ziade M
Bertrand Y
Carrie C
Chastagner P
Bost-Bru C
Léonard JC
Ouache M
Boccon-Gibod L
Mary P
de Blic J
Pin I
Wendling D
Revillon Y
Houdoin V
Forin V
Lepointe HD
Languepin J
Wagnon J
Epaud R
Fauroux B
Donadieu J

on PubMed

Héritier S
Le Merrer M
Jaubert F
Bigorre M
Gillibert-Yvert M
de Courtivron B
Ziade M
Bertrand Y
Carrie C
Chastagner P
Bost-Bru C
Léonard JC
Ouache M
Boccon-Gibod L
Mary P
de Blic J
Pin I
Wendling D
Revillon Y
Houdoin V
Forin V
Lepointe HD
Languepin J
Wagnon J
Epaud R
Fauroux B
Donadieu J
Related articles/pages
on Google

on Google Scholar

on PubMed

Tools:

Post to:

Research

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

Sébastien Héritier¹ , Martine Le Merrer² , Francis Jaubert³ , Michèle Bigorre⁴ , Marion Gillibert-Yvert⁵ , Benoit de Courtivron⁵ , Makram Ziade⁴ , Yves Bertrand⁶ , Christian Carrie⁷ , Pascal Chastagner⁸ , Cécile Bost-Bru⁹ , Jean-Claude Léonard¹⁰ , Marie Ouache¹¹ , Liliane Boccon-Gibod¹² , Pierre Mary¹³ , Jacques de Blic¹⁴ , Isabelle Pin⁹ , Daniel Wendling¹⁵ , Yann Revillon¹⁶ , Véronique Houdoin¹⁴ , Véronique Forin¹⁷ , Hubert Ducou Lepointe¹⁸ , Jane Languepin¹⁹ , Jeanne Wagnon²⁰ , Ralph Epaud²¹ , Brigitte Fauroux²¹ and Jean Donadieu¹

¹Service d'hématologie oncologie pédiatrique, Centre de référence des histiocytoses, AP-HP Hôpital Armand Trousseau, Paris, France

²Service de génétique, Centre de référence des maladies osseuses, AP-HP Hôpital Necker, Paris, France

³Service d'anatomie et cytologie pathologique, AP-HP Hôpital Necker, Paris, France

⁴Service de chirurgie plastique pédiatrique, Hôpital Lapeyronie, Montpellier, France

⁵Service d'orthopédie, Hôpital Clocheville, CHU de Tours, France

⁶Institut d'hématologie et d'oncologie Pédiatrique, Lyon, France

⁷Département de radiothérapie, Centre Léon Bérard, Lyon, France

⁸Service de Médecine Infantile, Hôpitaux de Brabois, Vandoeuvre les Nancy, France

⁹Pédiatrie, Pôle Couple enfant, CHU de Grenoble, France

¹⁰Institut Calot, Berck sur Mer, France

¹¹Service d'hématologie, AP-HP Hôpital Robert Debré, Paris, France

¹²Service d'anatomie et cytologie pathologique, AP-HP Hôpital Armand Trousseau, Paris, France

¹³Service d'orthopédie, AP-HP Hôpital Armand Trousseau, Paris, France

¹⁴Service de pneumologie, AP-HP Hôpital Necker, Paris, France

¹⁵Service de rhumatologie, CHU de Besançon, France

¹⁶Service de chirurgie viscérale, AP-HP Hôpital Necker, Paris, France

¹⁷Service de rééducation, Centre de référence des maladies osseuses, AP-HP Hôpital Armand Trousseau, Paris, France

¹⁸Service de radiologie, AP-HP Hôpital Armand Trousseau, Paris, France

¹⁹Service de pédiatrie générale, CHU de Limoges, France

²⁰Service de pédiatrie générale, CH de Morlaix, France

²¹Service de pneumologie, Centre de référence des maladies pulmonaires rares, AP-HP Hôpital Armand Trousseau, Paris, France

author email corresponding author email

Orphanet Journal of Rare Diseases 2010, 5:3doi:10.1186/1750-1172-5-3


Published:	3 February 2010

Abstract

Objective

To document the epidemiological, clinical, histological and radiological characteristics of aggressive vascular abnormalities of bone in children.

Study design

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.

Results

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.

Conclusion

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.