Arnaud Picard

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. Methods: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. Results: All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. Conclusions: This au-tosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis.

La chirurgie du cuir chevelu de l’enfant : principes et particularités thérapeutiques

Le traitement chirurgical des lesions du cuir chevelu chez l’enfant doit repondre a plusieurs objectifs : pouvoir pratiquer l’exerese d’une lesion etendue en un minimum de temps operatoires, obtenir une cicatrice « cachee » au sein des cheveux, pouvoir corriger une cicatrice elargie et disgracieuse. A partir de notre experience portant sur 450 cas (1990-2000), nous revoyons les pathologies les plus frequentes chez l’enfant : hamartomes sebaces, naevus pigmentaires congenitaux, alopecies post traumatiques, aplasia cutis congenita et hemangiomes immatures compliques du nourrisson. Les differentes techniques chirurgicales sont abordees : exerese suture, expansion tissulaire, micro-transplantation capillaire. La laxite naturelle du cuir chevelu avant l’âge de 3 mois autorise l’exerese precoce de vastes lesions. L’expansion tissulaire est particulierement adaptee au cuir chevelu. Les lambeaux locaux sont peu fiables dans l’ aplasia cutis congenita en raison des anomalies de la vascularisation locale. Les hemangiomes compliques peuvent necessiter un traitement chirurgical precoce.

Primary Cutaneous B‐Cell Lymphoblastic Lymphoma in Children. Report of Two Cases

Precursor B‐cell lymphoblastic lymphoma (B‐LBL) is an uncommon high‐grade neoplasm. Primary cutaneous B‐LBL is uncommon and clinical diagnosis is difficult. We report two cases of primary cutaneous B‐LBL that had initially been diagnosed as an infected dermoid cyst and lipoma, respectively, and referred for excision. The cases demonstrate the importance of biopsy and histopathologic examination of subcutaneous tumors to guide appropriate therapy.

Injections d’acides hyaluroniques au niveau de visages atteints de malformations faciales. Étude préliminaire de l’assouplissement des zones cicatricielles et de l’amélioration esthétique

BACKGROUND Cross-linked hyaluronic acid-based fillers have gained rapid acceptance for treating facial wrinkles, deep tissue folds and sunken areas due to aging. This study evaluates, in addition to space-filling properties, their effects on softness and elasticity as a secondary effect, following injection of 3 commercially available cross-linked hyaluronic acid-based fillers (15mg/mL, 17,5mg/mL and 20mg/mL) in patients presenting with congenital or acquired facial malformations. PATIENTS ET METHODS We started injecting gels of cross-linked hyaluronic acid-based fillers in those cases in 2013; we performed 46 sessions of injections in 32 patients, aged from 13-32. Clinical assessment was performed by the patient himself and by a plastic surgeon, 15 days after injections and 6-18 months later. RESULTS Cross-linked hyaluronic acid-based fillers offered very subtle cosmetic results and supplemented surgery with a very high level of satisfaction of the patients. When injected in fibrosis, the first session enhanced softness and elasticity; the second session enhanced the volume. Cross-linked hyaluronic acid-based fillers fill sunken areas and better softness and elasticity of scar tissues. CONCLUSION In addition to their well-understood space-filling function, as a secondary effect, the authors demonstrate that cross-linked hyaluronic acid-based fillers improve softness and elasticity of scarring tissues. Many experimental studies support our observations, showing that cross-linked hyaluronic acid stimulates the production of several extra-cellular matrix components, including dermal collagen and elastin.

Rhabdomyosarcoma and rhabdomyoma associated with nevoid basal cell carcinoma syndrome: Local treatment strategy

This article presents the case of a child presenting with a rhabdomyosarcoma associated with a fetal rhabdomyoma in the setting of nevoid basal cell carcinoma syndrome. Oncologic strategy is discussed.