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

Service d'hématologie oncologie pédiatrique, Centre de référence des histiocytoses, AP-HP Hôpital Armand Trousseau, Paris, France.
Orphanet Journal of Rare Diseases (Impact Factor: 3.96). 01/2010; 5:3. DOI: 10.1186/1750-1172-5-3
Source: PubMed

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

  • [Show abstract] [Hide abstract]
    ABSTRACT: Abstract Background: Progressive osteolysis caused by lympathic malformations is a rare condition that should be known by specialists involved in the study of lymphatic disorders because they are necessarily involved in the treatment. The purpose of the present study is to report on a large series of patients to illustrate the multiple clinical pictures and the wide range of therapeutic measures necessary for arresting bone destruction and lymphatic leak. Methods and Results: Inclusion criteria were osteolysis associated with lymphatic malformation that required treatment. Diagnosis was based on history, plain X-rays, MRI, and demonstration of the lymphatic nature of the lesions with D2-40 immunohistochemistry. Treatment was based on resection of the bone lytic lesion or soft tissue lymphatic masses, control of chylothorax or chyloperitoneum, interferon, zoledronic acid, and radiotherapy. The study included 54 patients (25 females and 29 males) with a median age of 9 years (range 2 to 65). Eight patients had focal osteolysis without soft tissue lymphatic anomaly, 15 multifocal osteolysis without soft tissue lymphatic anomaly, 7 focal osteolysis associated with soft tissue lymphatic anomaly, and 24 multifocal osteolysis with soft tissue lymphatic anomaly. Among the wide variety of pharmacological therapies provided, only one protocol showed a consistent positive effect (end of ostelytic progression) in 17 patients who received a course of 6 to 15 months of interferon alpha-2B at 1.5 million units/m(2) body surface area/day in association with zoledronic acid at 0.05 mg/kg/month. Thirty-two patients underwent multiple surgical procedures in order to remove the soft tissue involved, correct orthopedic problems, or improve chylothorax, and three were treated with radiotherapy which was successful in one case. Conclusions: Osteolysis from lymphatic origin is a devastating surgical condition. Therapeutic options have to be considered separately if the disease is active or inactive and according to the targeted organ (skin, bone, or viscera). Total removal of the lymphatic anomaly is rarely possible, but its subtotal excision together with pharmacological antiangiogenic therapy in selected patients under surveillance of a multidisciplinary group familiarized with the disease, minimize the progression of both, lymphatic invasion, osteolysis, and their serious complications.
    Lymphatic Research and Biology 12/2012; · 2.33 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The term "vascular anomalies" embraces a spectrum of medical conditions characterized by abnormal growth or development of blood and/or lymphatic vessels. Patient management is frequently provided in a multidisciplinary team approach, as there are many facets to evaluation and treatment. Clinical and basic research during the past decade has enhanced our knowledge, providing insight into possible etiologies, associated genetic mutations, cellular mechanisms modulating the development, and natural history of these disorders. Concomitantly, new therapeutic agents have been identified, which has transformed patient management. In this review, a brief overview of the field including an update in basic research is presented, followed by a discussion of current therapies and their purported mechanism of action.
    Facial Plastic Surgery 12/2012; 28(6):575-83. · 0.92 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Gorham's disease is a rare condition of unknown etiology, which is characterized by intra-osseous vascular abnormalities leading to osteolysis and sometimes, extension to adjacent tissues. Although there is no histological evidence of malignancy, the lesions display an aggressive potential responsible of osteolysis with pathological fractures and respiratory failure. The extension of the disease varies from one location to multiple bone lesions throughout the skeleton and the clinical presentations depend on the sites of involvement. In the ISSVA (International Society for the Study of Vascular Abnormalities) classification, its affiliation to the group of vascular tumors or vascular malformations is still debated. To date, there is no standard treatment defined for this disease. The proposed treatments are inhibitors of bone resorption (bisphosphonates) and interferon alpha therapy or anti-angiogenic molecules. Radiation therapy and surgery may also have a place in the therapeutic strategy.
    Bulletin du cancer 04/2012; 99(5):599-604. · 0.61 Impact Factor

Full-text (3 Sources)

Available from
Jun 4, 2014