X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the ectodermal dysplasias characterised by an abnormal development of eccrine sweat glands, hair and teeth. The ED1 gene responsible for the disorder undergoes extensive alternative splicing and to date few studies have concerned the full length transcript. We screened 52 unrelated families or sporadic cases for mutation in the full coding sequence of this gene. SSCA analysis or direct sequencing allowed identification of mutations in 34 families: one initiation defect, twenty-two missenses, two nonsense, eight insertions or deletions, and a large deletion encompassing all the ED1 gene. Fourteen of these mutations have not been previously described, including five missenses. One third of identified mutations were localised in codons 155 and 156, affecting CpG dinucleotides and nine of them correspond to the R156H missense. Hypothesis of a founder effect has been ruled out by haplotype analysis of flanking microsatellites. These recurrent mutations indicate the functional importance of the positively charged domain of the protein. Including our data, there are now 56 different mutations reported in 85 independent patients, that we have tabulated. Review of clinical features in the present series of affected males and female carriers showed no obvious correlation between the type of mutations, the phenotype and its severity. The X-chromosome pattern of inactivation in leucocytes showed little correlation with expressivity of the disease in female carriers. Finally this study is useful for functional studies of the protein and to define a diagnostic strategy for mutation screening of the ED1 gene.

Objective. To review the literature and collect expert advice for proposing preventive and curative treatments of mouth and dental involvement in patients with systemic sclerosis (SSc; scleroderma). Methods. The literature pertaining to mouth and/or dental involvement related to SSc was reviewed, and recommendations were developed according to the suggestions of a French multidisciplinary working group of experts and validated by a lecture committee. Results. Dentists face 3 main issues in caring for SSc patients: oral mucosa involvement, manducatory apparatus and mouth involvement responsible for limitations in mouth opening, and treatment-related adverse events. An increased risk of tongue carcinoma has been noted. In patients with severe limitation in mouth opening (<30 mm), recommended treatments are a specific mouth-opening rehabilitation program, flexible sectional dentures, and splint therapy. Indications for dental implants depend on the severity of SSc, comorbidities, and/or ongoing bisphosphonate treatment. Prevention of mouth infections and caries implies patient education and teaching about mouth and dental hygiene, periodontal maintenance, and treatment of sicca syndrome. Cessation of tobacco use is mandatory. Patient-tailored rehabilitation may improve limitations in mouth opening. Systematic dental panoramic radiography allows for the early detection of dental caries. Conclusion. Prevention of oral and dental complications is a major issue in patients with SSc. Dental treatment should be tailored to limitations in mouth opening, disease severity, and ongoing treatments.

Bisphosphonates are currently used in the therapy of osteogenesis imperfecta (OI) to decrease the bone fragility observed in OI patients. Bisphosphonate therapy delays tooth eruption in rats. The aim of this study was to determine whether or not bisphosphonate therapy delays tooth eruption in children. The clinical emergence of teeth was observed and the calculated dental age and the number of delayed teeth were determined for 33 OI patients treated with bisphosphonates and for strictly gender- and age-matched controls. There were significant differences between bisphosphonate-treated patients and controls for calculated dental age and number of delayed teeth. Bisphosphonate therapy was associated with a mean delay of 1.67 yr in tooth eruption in children with OI.

Our study demonstrates that EDARADD mutations are not a frequent cause of HED, while mutations in TRAF6, TAB2 and TAK1 may not be implicated in this disease.

We report on a syndrome of spondylo-epimetaphyseal dysplasia, dentinogenesis imperfecta, and ligamentous hyperextensibility in two sibs born to nonconsanguineous parents. This chondrodysplasia was characterized by severe shortness of stature and an osteoporosis without fractures. Electron microscopic examination of the cartilage documented large vacuoles of dilated rough endoplasmic reticulum within the cytoplasm of chondrocytes. Gel electrophoresis of pepsin-soluble collagen extracted from cartilage demonstrated the presence of type II collagen chains with an abnormal mobility. Prolyl and lysyl hydroxylations were slightly increased. The abnormal molecules melted at a higher temperature than the normal ones. CNBr peptide mapping of type II collagen showed an altered electrophoretic migration of peptides CB 11, CB 8, and CB 10,5 whereas CB 9,7 looked normal. In addition, two small non-collagenous proteins isolated from cartilage were not found in an age-matched control individual but were detected in a normal newborn infant. The quantitation of proline-labelled collagen synthesized by dermal fibroblasts demonstrated a 50% reduction of total collagen. This decrease essentially affected the amount of extracellular type I collagen, which was secreted less efficiently than in control cells. Nevertheless, type I collagen chains behaved normally on 5% polyacrylamide gels. The reduced mRNA levels of alpha 1I and alpha 2I chains might reflect either a transcriptional defect or a decreased stability of mRNA transcripts. We suggest that the association of both pathological chondrocytes producing altered collagen type II and decreased synthesis of type I could be responsible for this peculiar phenotype. The overmodification of alpha 1II CNBr peptides is consistent with the presence of a single-base substitution in the COL2A1 gene. Whether there is a direct causal relationship between the type II collagen defect and the underexpression of type I collagen will require clarification.

The authors report a case of an ectopic secreting choroid plexus in the oropharyngeal region of a neonate. The lesion presented as a rapidly growing tumor, containing CSF. No communication with the cranial cavity could be found. Following two surgical interventions the lesion was entirely removed and pathological examination revealed choroid plexus.

Avulsions dentaires et kystectomies chez les patients présentant un déficit constitutionnel en facteurs de l'hémostase : conduite à tenir SOCIÉTÉ FRANCOPHONE DE MÉDECINE BUCCALE ET DE CHIRURGIE BUCCALE Article pédagogique Remerciements : Le groupe de travail tient à remercier pour leur collaboration à ce travail Mesdames Marie Claude LINCHET (secrétaire médicale, Hôpital Cochin), Geneviève JOLIVET (cadre infirmier, Hôpital Cochin) et Elisabeth TONNEL (manipulatrice en radiologie, Hôpital Cochin).

Twelve healthy children in three age groups anaesthetized for minor surgery were given a single oral dose of tiaprofenic acid (3 mg.kg-1) (TA). Seven blood samples and zero to 8 and 8 to 24 h urines were collected. TA concentrations in plasma and urine were measured by HPLC. No significant difference was found between the age groups in the kinetic parameters of TA and no correlation was found between these parameters and age: tmax = 2.12 h, Cmax = 8.78 mg.l-1, AUC(0----8 h) 33.9 mg.h.l-1, AUC = 39.3 mg.h.l-1, t1/2 = 2.35 h, Vt = 0.319 l.kg-1, CL = 0.094 l.h-1.kg-1. Renal clearance was 14 ml.h-1.kg-1.33% of the TA dose was recovered in the 24 h urine, 48% of which was conjugated, whereas in adults, TA is only found in urine as conjugates. The apparent plasma clearance was significantly higher (56%) than in 12 healthy adults given 1.5 mg.kg-1 TA. Volume of distribution and t1/2 did not significantly differ between children and adults. Since no relationship has been established between plasma TA and either efficacy or toxicity, a different dose regimen cannot be recommended in 3-11 year-old children from that in adults.