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

<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

Reticular infantile hemangiomas with minimal or arrested growth associated with lipoatrophy

International audienceBACKGROUND:Reticular infantile hemangioma (RIH) with minimal or arrested growth (MAG) is an underrecognized variant of infantile hemangioma (IH).OBJECTIVE:We describe a new clinical subtype of RIH-MAG associated with lipoatrophy.METHODS:The medical charts and serial clinical photographs and imaging studies of 53 children given a diagnosis between 2004 and 2013 labeled as "abortive," "minimal or arrested growth," "reticular," or "congenital" hemangiomas were reviewed in the departments of dermatology and infantile plastic surgery of 2 French university hospital centers.RESULTS:Seven children were identified with RIH-MAG associated with lipoatrophy. There were 3 main patterns: (1) a focal cutaneous depression; (2) semicircular lipoatrophy with a horizontal bandlike depression; and (3) segmental soft-tissue atrophy. One case of segmental RIH-MAG of the back of the foot was associated with genital abnormalities reminiscent of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tags (PELVIS) syndrome.LIMITATIONS:The limitations were the retrospective study design, the small number of cases, and selection bias based on recall and photography.CONCLUSION:RIH-MAG with lipoatrophy is an uncommon variant of IH that may be confused with other vascular anomalies, particularly capillary malformation, focal and atrophic cutis marmorata congenita telangiectatica, and rapidly involuting congenital hemangioma with lipoatrophy as a sequela

Les anomalies musculaires dans les syndromes de dysplasie oto-mandibulaire

MONTPELLIER-BU Médecine (341722104) / SudocMONTPELLIER-BU Médecine UPM (341722108) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Comparison between combined cortical and cancellous bone graft and cancellous bone graft in alveolar cleft: Retrospective study of complications during the first six months post-surgery

International audienceIn patients with alveolar cleft, alveolar bone graft is usually performed before the permanent maxillary canine or incisor eruption and using cancellous bone harvested from the iliac crest. The authors sought to compare the early complication rate in patients who received cancellous bone graft alone and cortical bone graft in addition to cancellous bone to reconstruct the nasal floor. Methods: For this observational, retrospective, monocentric study, patients with alveolar cleft who underwent autologous alveolar bone graft and gingivoperiosteoplasty at Montpellier Hospital were divided into two groups: group A, who had cortical and cancellous bone graft; and group B, who had only cancellous bone graft. Both groups were followed for 6 months after surgery, and complications were recorded.Results: In total, 319 grafts (group A, 163; group, 156) were performed from June 1999 to May 2016. The major complication rates were 8% and 5.8% in group A and B, respectively, and were not significantly different (p = 0.52). Similarly, the rates of minor complications and of donor site morbidity were not different between groups.Conclusions: This preliminary study shows that adding a cortical bone graft for the nasal floor reconstruction does not increase the risk of complications in 6 months following the graft. Long-term benefits such as alveolar height and a piriform aperture symmetrisation will have to be analysed to study the contribution of the technique

Life-Threatening Cutaneous Bleeding in Childhood Klippel-Trenaunay Syndrome Treated With Oral Sirolimus

International audienceKlippel-Trenaunay syndrome (KTS) is characterized by the triad of cutaneous capillary malformations (port-wine stains), asymmetrical disturbed growth of soft tissues and/or bone, and venous and lymphatic malformations. Prolonged and recurrent cutaneous bleeding from ulceration of the capillary and/or venous and/or lymphatic malformation can be life-threatening. We report for the first time to our knowledge a case of Klippel-Trenaunay syndrome treated by oral sirolimus

Early secondary bone grafting in children with alveolar cleft does not modify the risk of maxillary permanent canine impaction at the age of 10 years

International audienceThe risk of maxillary permanent canine retention is elevated in children with cleft lip and palate (CLP). This study compared this risk in 10 ± 1 year-old patients with unilateral CLP (UCLP) who underwent or not early maxillary bone grafting at the age of 6 ± 1 years.METHODS:Retrospective, controlled monocentric and observational study with the following inclusion criteria: patients with UCLP, isolated cleft, pre-surgery orthodontic maxillary expansion, same surgical protocol, same surgical team. The risk of maxillary canine retention was evaluated using a dental panoramic radiograph, on the basis of the canine root development stage and of the angle (> or <45°) between the main axis of the maxillary canine and a virtual reference axis parallel to the medial sagittal axis.RESULTS:The impaction risk at the age of 10 was of 14.29% (4/28) for the group who underwent early bone grafting and 21.88% (7/32) for the group without early grafting (p = 0.45). Permanent lateral incisor agenesis and the patient's sex did not change this risk.CONCLUSIONS:Early alveolar bone grafting does not significantly change the risk of permanent maxillary canine retention at 10. Long-term followup of a larger population is needed to confirm this result

Median cleft of the upper lip: A new classification to guide treatment decisions

International audienceMedian cleft of the upper lip (MCL) is a specific and rare entity on the spectrum of facial clefts. MCL have different clinical expressions and can be either isolated or part of multiple malformations. Confusion still exists regarding the explanation and classification of MCL; some cases have been reported in the literature, but no studies carried out a complete review of the literature. This study reviewed cases of MCL in 2 French units and conducted a systematic review of the literature, in order to derive a new classification. Fourteen patients with MCL in the 2 units and 195 cases in the literature were reviewed. They involved complete (42%), incomplete (49%), and minor forms (9%). Epidemiological and clinical data were collected, from which a classification was derived, based on the type of cleft and its belonging to other syndrome(s). Three main groups were distinguished, namely, isolated MCL, MCL within craniofacial malformations, and MCL with extrafacial malformations. Each group and subgroup was associated with a prognosis and led to specific management. This study reviewed all of the various forms of MCL and their associated anomalies, in order to have a global view of MCL and to derive a useful classification scheme to guide management of care

Prenatal ultrasound diagnosis of cleft palate without cleft lip, the new ultrasound semiology

International audienceObjectives: The aim of this study was to define the prenatal ultrasound semiology of cleft palate without cleft lip using 3D visualization of the fetal palate.Methods: A prospective longitudinal study was performed in our University Hospital Center from 2011 to 2018. The fetal secondary palate was studied in 3D, starting with 2D axial transverse ultrasound view. We defined a cleft palate as a disruption of the horizontal plate of the palatine bone of the secondary palate. Prenatal findings were correlated to anatomic postnatal examinations performed by a paediatric plastic surgeon.Results: Forty-three cases of cleft palate without cleft lip were prenatally diagnosed, of whom 34 were associated with malformations. We defined four types of disruptive appearances: isolated nonvisualization of the posterior nasal spine; partial-disruption or cleft velum; complete disappearance or V-shaped cleft palate; and complete disappearance or U-shaped cleft palate. The adjusted kappa coefficient, between prenatal and postnatal evaluation, was 0.88 (95% CI: 0.79-0.97), corresponding to an excellent agreement.Conclusions: Using a strictly axial transverse ultrasound view, visualization of the secondary fetal palate enables to diagnose a cleft palate without cleft lip. This method offers a prenatal anatomic classification of cleft palate with a high level of concordance to postnatal findings

Prenatal ultrasound diagnosis of cleft palate without cleft lip, the new ultrasound semiology

International audienceObjectives: The aim of this study was to define the prenatal ultrasound semiology of cleft palate without cleft lip using 3D visualization of the fetal palate.Methods: A prospective longitudinal study was performed in our University Hospital Center from 2011 to 2018. The fetal secondary palate was studied in 3D, starting with 2D axial transverse ultrasound view. We defined a cleft palate as a disruption of the horizontal plate of the palatine bone of the secondary palate. Prenatal findings were correlated to anatomic postnatal examinations performed by a paediatric plastic surgeon.Results: Forty-three cases of cleft palate without cleft lip were prenatally diagnosed, of whom 34 were associated with malformations. We defined four types of disruptive appearances: isolated nonvisualization of the posterior nasal spine; partial-disruption or cleft velum; complete disappearance or V-shaped cleft palate; and complete disappearance or U-shaped cleft palate. The adjusted kappa coefficient, between prenatal and postnatal evaluation, was 0.88 (95% CI: 0.79-0.97), corresponding to an excellent agreement.Conclusions: Using a strictly axial transverse ultrasound view, visualization of the secondary fetal palate enables to diagnose a cleft palate without cleft lip. This method offers a prenatal anatomic classification of cleft palate with a high level of concordance to postnatal findings