Nevoid basal cell carcinoma syndrome: a case report and literature review.

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder associated with basal cell carcinomas (BCC), skeletal anomalies, and jaw cysts, and a number of ocular abnormalities. We describe a case of a 12-year-old boy diagnosed with NBCCS found to have several ophthalmic manifestations including a myelinated retinal nerve fiber. We conducted a literature review targeting the ocular and systemic manifestations of NBCCS, with a focus on the ophthalmic findings that have not been well characterized. MATERIALS AND METHODS: We conducted a literature search from 1960 to 2021 utilizing specific keywords and criteria and excluded non-clinical articles. A total of 46 articles were ultimately used for the literature review. RESULTS: In NBCCS, BCCs typically present before the age of 30 and gradually become numerous. Certain ocular features, less common in the general population, are much more common with NBCCS. Depending on the study, prevalence of these features in patients with NBCCS ranges from 26-80% for hypertelorism and 7-36% for myelinated retinal nerve fiber layer. Prevalence of nystagmus in patients with NBCCS was found to be approximately 6%. Systemic findings such as bilamellar calcification of the falx cerebri, palmar pits, and odontogenic keratocysts (OKCs) are also prevalent. CONCLUSION: NBCCS may affect numerous organ systems, and thus requires a multidisciplinary team to manage. BCCs and jaw cysts are commonly occurring clinical features that have various surgical excisional options. The ocular anomalies of NBCCS are individually rare, and certain anomalies may present in the amblyogenic period of development and contribute to visual impairment.

Are incisional biopsies reliable for selecting definitive treatment of ameloblastomas? A 15-year interdisciplinary retrospective study.

OBJECTIVES: Sampling error in incisional biopsy can lead to under/overtreatment. The aim of this study is to determine the incidence of sampling error/discordance between incisional biopsy and final diagnosis and consequences for treatment outcomes. STUDY DESIGN: This study is a retrospective cohort study of patients treated for ameloblastoma at an academic medical center from 2005 to 2020. Patients with minimum of 1 year of follow-up after definitive treatment and complete documentation were included. Clinical variables included radiographic findings, incisional biopsy, and final histopathology. Outcome variables were discordance between incisional biopsy and final pathology as well as recurrence rates. Results are primarily descriptive. Fisher's exact test was used to test for differences in recurrence rates. RESULTS: Twenty-three patients (14 male/9 female) met the inclusion criteria. Overall, discordance was found in 2 cases (8.6%) and sampling error in 3 (13.04%). One of the 3 cases showing sampling error had recurrence and required secondary resection. Six patients (26.1%) had recurrent lesions, and all patients underwent enucleation and curettage with or without peripheral ostectomy. CONCLUSIONS: Incisional biopsies by themselves are not always consistent with a final diagnosis. Possibility of sampling error should be included in informed consent. Consultation with an oral pathologist is essential at initial and final histopathologic evaluation.

Surgical Versus Nonsurgical Management of Degenerative Joint Disease.

As knowledge of the complexity of myofascial pain and its interaction with temporomandibular joint disorders has increased, the use of surgical procedures to treat degenerative joint disease has decreased. The focus has moved from a "surgery-first" approach toward a more cautious one that involves nonsurgical treatment as the primary modality, then minimally invasive treatments, followed by open surgical modalities, when indicated. This article examines the current literature regarding the effectiveness of nonsurgical and surgical treatments for the management of degenerative joint disease.

Discectomy Versus Disc Preservation for Internal Derangement of the Temporomandibular Joint.

Anterior disc displacement with or without reduction is a common finding in symptomatic and asymptomatic individuals. When symptomatic and associated with dysfunction it requires an intervention. Once nonsurgical management fails and the patient does not respond to minimally invasive procedures, open surgical treatment is indicated. However, controversy exists about whether disc-preservation procedures, such as repositioning/repairing or disc removal, is the preferred treatment. This article evaluates the current evidence supporting both treatment options and highlights the indications, contraindications, and consequences of each.

Injectable Agents Versus Surgery for Recurrent Temporomandibular Joint Dislocation.

Recurrent temporomandibular joint dislocation (TMJD) is a distressing entity to the patient and a therapeutic challenge to the treating provider. Absence of high-level evidence in literature among currently available treatment options creates a lack of consistency in management. This article reviews the current literature on common injectable agents used and the open surgical techniques. Based on the findings, an injectable agent is the initial treatment of choice for recurrent TMJD, with capsulorraphy and eminectomy being used in nonresponding patients.

Juvenile Mandibular Chronic Osteomyelitis: Role of Surgical Debridement and Antibiotics.

PURPOSE: To document outcomes of management of juvenile mandibular chronic osteomyelitis (JMCO) using a standardized treatment protocol including open biopsy, decortication, microbial culture, and long-term antibiotic therapy. MATERIALS AND METHODS: This was a retrospective case study of pediatric patients with JMCO treated at Massachusetts General Hospital for Children from 1996 through 2014. Inclusion criteria included age younger than 18 years, diagnosis of JMCO, management by the protocol, adequate clinical and radiographic data in the record, and follow-up of at least 1 year after initial treatment. Inpatient and outpatient records were reviewed for demographics, clinical and radiographic findings, and histologic and laboratory evaluations. The predictor variable was the standardized treatment protocol and the primary outcome variables were disease status at end of treatment and complications of treatment. RESULTS: Twenty patients (mean age at onset, 10.7 yr; range, 3 to 14 yr) were treated, 12 (11 girls) of whom met the inclusion criteria. Management of all patients consisted of biopsy (extraoral when feasible, n = 9; intraoral, n = 3), decortication, cultures, and long-term antibiotic therapy. Nonsteroidal anti-inflammatory drugs (NSAIDs) were administered only as needed for pain control. There was complete resolution of osteomyelitis with no recurrence in 7 of 12 patients (mean follow-up, 4.3 yr; range, 1 to 11 yr). Five patients had partial responses, with decreased frequency and severity of disease recurrence. These were well controlled with short courses of antibiotics (4 to 12 weeks) with NSAIDs only as needed for pain control (mean follow-up, 1.4 yr; range, 1 to 3 yr). There were no major complications related to antibiotic therapy. Minor complications included rash (n = 2), nausea and vomiting (n = 1), and vaginal candidiasis (n = 1). CONCLUSION: The results of this study indicate that 58.3% of patients were cured and had no recurrent symptoms (mean follow-up, 4.3 yr). The remaining patients continue on intermittent treatment with antibiotics for recurrent episodes of swelling and pain. Favorable responses to antibiotic therapy support the hypothesis that JMCO is an infectious disease and that negative cultures might represent a failure of standard culture techniques to isolate the responsible organisms.