Frédéric Vaysse

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

Ectodermal dysplasias (ED) are a clinically and genetically heterogeneous group of hereditary disorders that have in common abnormal development of ectodermal derivatives. Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of eccrine sweat glands, hair, and teeth. The X‐linked form of the disease, caused by mutations in the EDA gene, represents the majority of patients with the hypohidrotic form. Autosomal dominant and autosomal recessive forms are occasionally seen, and result from mutations in at least three genes (WNT10A, EDAR, or more rarely EDARADD). We have screened for mutations in EDAR (commonly involved in the hypohidrotic form) and WNT10A (involved in a wide spectrum of ED and in isolated hypodontia) in a cohort of 36 patients referred for EDA molecular screening, which failed to identify any mutation. We identified eight EDAR mutations in five patients (two with homozygous mutations, one with compound heterozygous mutations, and two with heterozygous mutation), four of which were novel variants. We identified 28 WNT10A mutations in 16 patients (5 with homozygous mutations, 7 with compound heterozygous mutations, and 4 with heterozygous mutations), seven of which were novel variants. Our study allows a more precise definition of the phenotypic spectrum associated with EDAR and WNT10A mutations and underlines the importance of the implication of WNT10A among patients with ED.

Hypophosphatasia may lead to bone fragility: don’t miss it

Hypophosphatasia is an inheritable disorder characterised by defective bone mineralisation due to the impaired activity of tissue-non-specific alkaline phosphatase (AP). Clinical presentation ranges from stillbirth without mineralised bone to pathological fractures in late adulthood. During childhood, the main manifestations include rickets, growth delay and dental problems. Fractures and bone pain usually characterise the adult form. A 9-year-old girl was referred for repetitive fractures after minimal trauma. She had normal growth, normal sclerae, no rickets and minimal dental abnormalities. Her sister had also presented fractures. The proband, her sister and mother had low total and bone-specific AP levels and E435K mutation in exon 12 of the liver/bone/kidney AP gene. Low AP levels must lead to genetic analysis. Bone fragility and repetitive fractures may be symptoms of hypophosphatasia in childhood, which must not be neglected. Associated factors such as vitamin D or calcium deficiency must be prevented. In conclusion, hypophosphatasia must not be forgotten as an aetiological factor of repetitive fractures or bone pain in children and AP activity should be checked accurately.

Oral complications and dental care in children with acute lymphoblastic leukaemia.

Acute leukaemia is the most common type of childhood cancer, the acute lymphoblastic type accounting for the majority of cases. Children affected by leukaemia receive various forms of treatments including chemotherapeutic agents and stem cell transplants. Leukaemia and its treatment can directly or indirectly affect oral health and further dental treatments. The oral complications include mucositis, opportunistic infections, gingival inflammation and bleeding, xerostomia and carious lesions. An additional consideration in children is the impact of the treatments on the developing dentition and on orofacial growth. The aim of this review is to describe the oral complications in children with acute lymphoblastic leukaemia and the methods of prevention and management before, during and after the cancer treatment.

Observation of trichomonads infection in a child with periodontitis by direct microscopy at the dental office

The pathogenicity of Trichomonas species is well documented. Although their exact involvement in gum disease is not fully understood, recent studies suggest a correlation between these protozoa and periodontitis. This case report details the first chair-side observation in Europe of an oral trichomonad infection in a child with periodontitis, by direct microscopy. The dramatic recovery of the patient, observed following administration of an anti-parasitic treatment, confirms the necessity of further investigation in this field.

Necrotizing Periodontal Diseases in Children: A Literature Review and Adjustment of Treatment

Necrotizing ulcerative gingivitis, sometimes observed in young children, may lead to necrotizing stomatitis and noma. Therefore, its interception is a necessity and a challenge for the paediatric practitioners. First, this article aims to propose a systematic review of recent literature on the use of local antiseptic and antibiotic prescription in this particular periodontal condition. Then, a protocol is proposed to have a simple, costless and reproducible treatment on children.

Oral Health Education in Children before Dental Treatment under General Anesthesia

OBJECTIVE The aim of this study was to evaluate the attitude of parents towards the oral health of their children before oral rehabilitation under general anesthesia (GA). STUDY DESIGN Children receiving dental treatment under GA between November 2013 and July 2014 in the Pediatric Dentistry Department (University Hospital Center, Toulouse, France) were enrolled in an oral health preventive program. An anonymous questionnaire was self-administered by the parents during the pre-operative session. RESULTS The sample comprised 67 children with a mean age of 4.8 years. 48 % of the parents had difficulties in maintaining the oral hygiene of their child. Two thirds of them reported a lack of cooperation. An adult cleaned the childs teeth in 43% of the cases. 14% of the study population brushed their teeth twice a day or more. In addition, half of the parents reported that they modified food consumption or teeth cleaning habits of their children since the initial consultation. CONCLUSIONS This study suggests a low compliance of parents and children with the recommendations on oral hygiene and food consumption given at the initial visit and demonstrates the feasibility of a preventive program in this population.