Cleidocranial Dysplasia: Management of the Multiple Craniofacial and Skeletal Anomalies.

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder caused by mutations in the Runx2 gene. The CCD is characterized by frontal bossing, a patent anterior fontanelle, presence of Wormian bones, midface hypoplasia, multiple dental abnormalities, clavicular hypoplasia or aplasia, skeletal abnormalities, and short stature. The aims of this study are to report the phenotypic manifestations of all patients who presented with CCD and to review the multidisciplinary management of these patients. The longitudinal data of patients with a diagnosis of CCD treated at The Australian Craniofacial Unit from 1980 to 2019 were reviewed. Fourteen patients were identified for inclusion in this study. The age at referral to the unit ranged from 1 week old to 49 years old (mean 11.2 years old). All patients had clinical features of frontal bossing, a patent anterior fontanelle, multiple Wormian bones, midface hypoplasia, abnormal dentition, clavicular hypoplasia/aplasia, and normal intellect. Eleven patients had obstructive sleep apnea. Eight patients had positive family history. Speech issues were found in 6 patients and abnormal hearing was found in 4 patients. Seven patients who underwent skeletal survey were found to have skeletal abnormalities. All patients were evaluated and managed by the multidisciplinary team, which consisted of craniofacial surgeons, pediatric dentists, orthodontists, ENT surgeons, pediatricians, clinical geneticists, radiologists, orthopedic surgeons, and social workers. All patients were treated by dentists/orthodontists requiring multiple surgical interventions and orthodontic treatment. Seven patients who had recurrent ear infection underwent ventilation tube insertion. Seven of 11 patients who had obstructive sleep apnea underwent adenotonsillectomy. Four patients underwent orthognathic surgery to correct midface hypoplasia and malocclusion. Two patients had cranioplasty for correction of metopic depressions. The characteristic findings of patients with CCD involving multiple regions of the body should draw clinicians' attention to the need for multidisciplinary management of these patients.

Histological analysis of 41 dentigerous cysts in a paediatric population.

BACKGROUND: Dentigerous cysts are usually of developmental nature but may be of inflammatory origin especially in paediatric populations. It is important to understand the histological features of dentigerous cysts to enable accurate diagnosis. The aim of this study is to present epidemiological, clinical features and histopathological features of dentigerous cysts seen in a paediatric tertiary referral hospital. METHOD: The medical, radiographic and histopathology records of the Department of Pathology, Women's and Children's Hospital, Adelaide, Australia, during January 1998 to December 2013 were reviewed for patients with dentigerous cysts. All cases were re-examined by a specialist oral pathologist, consultant paediatric pathologist and paediatric dentistry registrar. RESULTS: Forty-one cases of dentigerous cysts were found. Patients in the permanent dentition were most frequently affected. Male predilection was observed (male:female 2.42:1). The posterior mandible was the most frequently affected region (63.42%) although maxillary canines were the teeth most commonly associated with dentigerous cysts (29.27%). The majority of cases were incidental findings. Squamous epithelium showing pseudoepitheliomatous hyperplasia (46%) was frequently observed and was significantly present with thicker epithelium (P < 0.0001) and an acute and chronic inflammatory infiltrate (P < 0.001). Inflammatory infiltrate was seen in 75.6% of cases. CONCLUSIONS: The current study provides increased knowledge of the histological features of dentigerous cysts in a large retrospective series of paediatric patients and provides further evidence regarding the frequency of inflammatory dentigerous cysts.

Pemphigus Vulgaris and Eosinophilic Esophagitis in a 13-Year-Old Boy: Case Report and Review of the Literature.

This case report presents a 13-year-old boy referred to the Department of Paediatric Dentistry, Women's and Children's Hospital, Adelaide, South Australia, Australia, with a 5-week history of severe oral ulcerations and significant weight loss of unknown origin. The diagnosis of pemphigus vulgaris was made after histologic and immunofluorescent examination of an intraoral deep incisional biopsy, with eosinophilic esophagitis also diagnosed during the initial upper gastrointestinal endoscopy. The association between pemphigus vulgaris and eosinophilic esophagitis in this case, although previously unreported, is explicable on the basis of dysregulation of desmoglein 1 (DSG1). This case report identifies a new clinical association that could help clinicians identify further such cases and provides insight into the pathogenesis of both conditions.

Antibiotic Exposure and Dental Health: A Systematic Review.

CONTEXT: The use of antibiotics in young children is widespread and may lead to adverse effects on dental health, including staining, developmental defects, and dental caries. OBJECTIVE: To systematically review the effects of early childhood antibiotic exposure on dental health. DATA SOURCES: Medline (Ovid/PubMed), Embase (Ovid) and Cochrane databases. Study bias was assessed using the Newcastle-Ottawa Scale. STUDY SELECTION: English language articles that reported antibiotic exposure before 8 years of age and 1 or more of the relevant outcomes (dental caries, intrinsic tooth staining, or developmental defects of enamel) were included. DATA EXTRACTION: Data on study population, design, type of antibiotic, outcome measurement, and results were extracted from the identified studies. RESULTS: The initial search yielded 1003 articles of which 34 studies were included. Five of the 18 studies on tetracycline described a dose response relationship between exposure to tetracycline doses of > 20 mg/kg per day and dental staining. Early childhood exposure to doxycycline (at any dose) was not associated with dental staining. There was no clear association between any early childhood antibiotic exposure and dental caries or enamel defects. LIMITATIONS: In all included studies, the main limitations and sources of bias were the lack of comparison groups, inconsistent outcome measures, and lack of adjustment for relevant confounders. CONCLUSIONS: There was no evidence that newer tetracycline formulations (doxycycline and minocycline) at currently recommended dosages led to adverse effects on dental health. Findings regarding antibiotic exposure and developmental defects of enamel or dental caries were inconsistent. Further prospective studies are warranted.

Retrospective analysis of South Australian pediatric oral and maxillofacial pathology over a 16-year period.

AIM: The epidemiological features and distribution of pediatric oral and maxillofacial pathology in South Australia, Australia, is unknown. The medical and dental specialties involved in the management of oral and maxillofacial pathology is also unknown. The aim of the present study was to audit oral and maxillofacial pathology specimens submitted for diagnosis in a pediatric tertiary-referral hospital setting. METHODS: Histopathology records were retrieved from the Women's and Children's Hospital, Adelaide over a 16-year period. Age, sex, histopathological diagnosis, location of the lesion, and department involved were recorded. Lesions were classified into 12 categories. RESULTS: A total of 676 lesions involving the oral and maxillofacial region were collected from patients aged 0-18 years. The mean age was 8.71 years. Diagnosis was not significantly associated with sex (P = 0.123). A total of 97.37% of cases were benign, with connective tissue and salivary gland lesions most frequently biopsied and more frequently biopsied by medical departments. Mucoceles (19.23%) were most commonly diagnosed, followed by dentigerous cysts (5.62%). The Department of Paediatric Dentistry submitted most specimens, followed by the Department of Otolaryngology, the Australian Craniofacial Unit, and the Departments of Paediatric Surgery and Plastics. CONCLUSION: The present study provides valuable understanding into the epidemiological features of, and the specialties involved in, oral and maxillofacial histopathology in an Australian pediatric population.