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.
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