Scleroderma en Coup de Sabre, Parry-Romberg Hemifacial Atrophy and Associated Manifestations of the Eye, the Oral Cavity and the Teeth: A Danish Follow-Up Study of 35 Patients Diagnosed between 1975 and 2015.

BACKGROUND: Scleroderma en coup de sabre (ECDS) and Parry-Romberg idiopathic hemifacial atrophy (IHA) may affect the eyes, oral cavity, teeth and possibly the brain. OBJECTIVE: Systematic follow-up study of ECDS/IHA-associated manifestations including ophthalmic and dental status. METHODS: Medical records of ECDS and IHA patients diagnosed in a 40-year period (1975-2015) were reviewed, and patients were re-examined. RESULTS: Thirty-five patients were included. Twenty-two patients (63%) had ECDS and 4 patients (11%) IHA. In 9 cases (26%), ECDS and IHA were found in the same patient. The ipsilateral eye was affected in 9 patients (26%). Ipsilateral abnormalities of the teeth and the tongue were found in 13 (46%) out of 28 examined. Eleven (31%) had extrafacial scleroderma on the trunk or the extremities. Neurological findings were not verified as ECDS/IHA related. CONCLUSION: ECDS and IHA are related and often overlap with concomitant affections of the connective tissues of the face on the ipsilateral side. Ocular and dental abnormalities are common and follow the distribution of the primary affection, for example, a paramedian line in the front and segmental affection of the maxilla and the mandible. The affections point to predisposing dysmorphogenetic events in embryonal life affecting the face, with abnormality of crest cells at the stage when they migrate from behind over the scalp or laterally to the face to mix up with mesenchymal tissues of the frontonasal, maxillary and mandibular processes. The study emphasizes that routine evaluation of ECDS and IHA should include ophthalmological and dental specialist examinations.

Treatment Strategies for Patients with Regional Odontodysplasia: A Presentation of Seven New Cases and a Review of the Literature.

PURPOSE: Regional odontodysplasia (RO) is a rare dental anomaly affecting primary and/or permanent dentition, and leads to comprehensive treatment need. The purpose of this study was to present a larger consecutive sample with RO, discuss treatment strategies for patients with RO, and review the literature. MATERIALS AND METHODS: A consecutive, retrospective sample of seven children with RO (6 males, 1 female) including all patients diagnosed with RO in the eastern part of Denmark was conducted over a period of 15 years. The evaluation included gender, localisation and treatment outcome. A review of the literature and cases published within the last 15 years was conducted. RESULT: Referral age was 2-12 years (mean: 7.3 years). The gender ratio was 1:6 (female:male), and the right:left ratio was 3:4. 71% of the patients had RO in the mandible and 29% in the maxilla. 43% had RO in the permanent dentition, while both primary and permanent dentition were affected in 57%. Typically, RO affected incisors and canines. In some patients, RO also affected more distal tooth types. Treatment included early multiple extractions and subsequent combined orthodontics, surgery and prosthetics. A search on RO cases published within the last 15 years was conducted and included 44 cases. The review showed a male and maxillary preponderance. The most common treatment of RO is extraction. CONCLUSION: Treatment of RO should take place in interdisciplinary, specialised teams, and individual treatment plans should be designed. Fewer but more extensive treatment sessions under general anesthaesia may minimise the burden of care for the patients.

Dental traumatology: an orphan in pediatric dentistry?

Traumatic dental injuries are very frequent during childhood and adolescence. In fact, 2 out of 3 children have suffered a traumatic dental injury before adulthood. This fact links dental traumatology to pediatric dentistry. Unfortunately, this is not reflected by active participation by pediatric dentists in acute treatment, follow-up, and research. To examine the status of pediatric dentistry in relation to dental trauma, a publication analysis was undertaken in 1980, 1990, 2000, and 2007 about trauma articles published in 4 pediatric journals: journal of Dentistry for Children, Pediatric Dentistry, The journal of Pedodontics, and the International journal of Pediatric Dentistry. This study shows an average publication rate of trauma articles of approximately 3 percent of all articles published and with no improvement in later decennia. If only clinical studies are considered (leaving out case reports), the publication rate is less than 1 percent--completely out of proportion to the size of the problem dental trauma impose in children.

Transplantation of premolars as an approach for replacing avulsed teeth.

Autotransplantation of premolars to the anterior region subsequent to tooth loss represent a unique treatment method that has a number of advantages in comparison with other tooth substitution methods. A tooth transplant has a bone inducing capacity implying that lost labial bone is regenerated. Secondly the tooth precipitates growth of the alveolar procces and allows treatment to be performed at an early age (10-12 years) where the trauma incidence is at its maximum. Finally transplanted teeth can be moved orthodontically. These characteristics make implant solutions appealing in a number of situations. The procedure consist in selecting a premolar in a optimal root development stage which is approximately three fourths root formation where optimal pulp and periodontal ligament healing can be achieved in more than 90 percent of the cases. The tooth is later after slight crown remodeling restored with composite or a porcelain laminate. Four recent long-term studies have shown survival rates between 90-98 percent and a single long term study (33 years) showed a survival rate of 90 percent, a survival rate not surpassed by any other type of tooth replacement (fixed or removable prostetics, implants). In conclusion premolar transplantation should be considered in cases of early loss of a permanent tooth.

Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.

BACKGROUND: Dentinogenesis imperfecta (DI) is a rare debilitating hereditary disorder affecting dentin formation and causing loss of the overlying enamel. Clinically, DI sufferers have a discolored and weakened dentition with an increased risk of fracture. The aims of this study were to assess genotype-phenotype findings in three families with DI-II with special reference to mutations in the DSPP gene and clinical, histological, and imaging manifestations. METHODS: Nine patients participated in the study (two from family A, four from family B, and three from family C). Buccal swab samples were collected from all participants and extracted for genomic DNA. Clinical and radiographic examinations had been performed longitudinally, and the dental status was documented using photographic images. Four extracted and decalcified tooth samples were prepared for histological analysis to assess dysplastic manifestations in the dentin. Optical coherence tomography (OCT) was applied to study the health of enamel tissue from in vivo images and the effect of the mutation on the function and structure of the DSPP gene was analyzed using bioinformatics software programs. RESULTS: The direct DNA sequence analysis revealed three distinct mutations, one of which was a novel finding. The mutations caused dominant phenotypes presumably by interference with signal peptide processing and protein secretion. The clinical and radiographic disturbances in the permanent dentition indicated interfamilial variability in DI-II manifestations, however, no significant intrafamilial variability was observed. CONCLUSION: The different mutations in the DSPP gene were accompanied by distinct phenotypes. Enamel defects suggested deficit in preameloblast function during the early stages of amelogenesis.

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R). Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients with PTH1R mutations will not benefit from surgical and/or orthodontic treatment and it is therefore clinically important to establish whether a given failure of tooth eruption is caused by a PTH1R defect or not. We analyzed the PTH1R gene in six patients clinically diagnosed with PFE, all of which had undergone surgical and/or orthodontic interventions, and identified novel PTH1R mutations in all. Four of the six mutations were predicted to abolish correct mRNA maturation either through introduction of premature stop codons (c.947C>A and c.1082G>A), or by altering correct mRNA splicing (c.544-26_544-23del and c.989G>T). The latter was validated by transfection of minigenes. The six novel mutations expand the mutation spectrum for PFE from eight to 14 pathogenic mutations. Loss-of-function mutations in PTH1R are also associated with recessively inherited Blomstrand chondrodysplasia. We compiled all published PTH1R mutations and identified a mutational overlap between Blomstrand chondrodysplasia and PFE. The results suggest that a genetic approach to preclinical diagnosis will have important implication for surgical and orthodontic treatment of patients with failure of tooth eruption.