Blau Syndrome With Delayed Cutaneous Manifestations: A Case Report.

ABSTRACT: Blau syndrome is a rare familial autoinflammatory disorder characterized by the triad of granulomatous dermatitis, polyarthritis, and uveitis. Blau syndrome exhibits an autosomal dominant inheritance pattern and can be caused by a gain-of-function mutation in nucleotide-binding oligomerization domain 2 (NOD2), a member of the NOD-like receptor family of pattern recognition receptors. Mutations in NOD2 cause upregulation of inflammatory cytokines and resultant autoinflammation. Because of the rarity of this condition and early onset of symptoms, Blau syndrome may be misdiagnosed as juvenile idiopathic arthritis. We present a case of a 37-year-old male patient with a long-documented history of juvenile idiopathic arthritis and uveitis, who developed an asymptomatic eruption of pink papules on the trunk and upper extremities. A biopsy demonstrated noncaseating, well-formed dermal granulomas with relatively sparse lymphocytic inflammation and Langerhans-type giant cells. Genetic testing confirmed a mutation in NOD2. Based on the patient's clinical history, histologic findings, genetic testing, the diagnosis of Blau syndrome was made.

Head and Neck Melanoma Incidence Trends in the Pediatric, Adolescent, and Young Adult Population of the United States and Canada, 1995-2014.

IMPORTANCE: Melanoma is one of the most common cancers worldwide, typically diagnosed in older adults. There is an increasing incidence in the younger population (age ≤40 years) in America. In addition, approximately 1 in 5 cases of melanoma affect the head and neck. However, there are limited data on the incidence of head and neck melanoma in the pediatric, adolescent, and young adult population in North America (United States and Canada). OBJECTIVE: To assess 20-year demographic and incidence changes associated with head and neck melanoma in the pediatric, adolescent, and young adult population in North America. DESIGN, SETTING, AND PARTICIPANTS: A descriptive analysis of retrospective data on head and neck melanoma from the North American Association of Central Cancer Registries' Cancer in North America public use data set from 1995 to 2014 was conducted. The data set currently includes 93% of the United States and 64% of the Canadian populations. Eligible data were from 12 462 pediatric, adolescent, and young adult patients (aged 0-39 years) with a confirmed diagnosis of melanoma (International Classification of Diseases-Oncology 3 histologic types 8720-8790) in primary head and neck sites: skin of lip, not otherwise specified (C44.0); eyelid (C44.1); external ear (C44.2); skin of other/unspecified parts of face (C44.3); and skin of scalp and neck (C44.4). The study was conducted from January 26 to July 21, 2019. MAIN OUTCOMES AND MEASURES: Log-linear regression was used to estimate annual percentage change in age-adjusted incidence rates (AAIRs) of head and neck melanoma. RESULTS: Of the 12 462 patients with head and neck melanoma included in the study, 6810 were male (54.6%). The AAIR was 0.51 per 100 000 persons (95% CI, 0.50-0.52 per 100 000 persons). In North America, the incidence of head and neck melanoma increased by 51.1% from 1995 to 2014. The rate was higher in the United States (AAIR, 0.52; 95% CI, 0.51-0.53 per 100 000 person-years) than Canada (AAIR, 0.43; 95% CI, 0.40-0.45 per 100 000 persons). In the United States, the incidence increased 4.68% yearly from 1995 to 2000 and 1.15% yearly from 2000 to 2014. In Canada, the incidence increased 2.18% yearly from 1995 to 2014. Male sex (AAIR, 0.55; 95% CI, 0.54-0.57 per 100 000 persons), older age (AAIR, 0.79; 95% CI, 0.79-0.80 per 100 000 persons), and non-Hispanic white race/ethnicity (AAIR, 0.79; 95% CI, 0.77-0.80 per 100 000 persons) were associated with an increased incidence of head and neck melanoma. CONCLUSIONS AND RELEVANCE: The incidence of pediatric, adolescent, and young adult head and neck melanoma in North America appears to have increased by 51.1% in the past 2 decades, with males aged 15 to 39 years the main cohort associated with the increase.

Impact of gender on the association between marital status and head and neck cancer outcomes.

OBJECTIVES: To determine whether the impact of marital status on head and neck cancer (HNC) outcomes vary by gender. METHODS: The Surveillance, Epidemiology, and End Results 18 database from 2007 to 2014 was queried for eligible cases of HNC (n = 71,799). An interaction term (gender*marital status) was tested for each outcome of interest (cancer-specific survival, stage of presentation, adequate treatment), and when significant (p < 0.05), the model was stratified by gender. A competing risks proportional hazards (subdistribution [sd]) model estimated the interaction effect on cancer-specific survival. Logistic regression estimated effect on stage of presentation and treatment type. RESULTS: There was significant gender*marital status interaction for cancer-specific survival and stage of presentation. While married/partnered patients had the highest survival among both genders, males benefitted more: widowed (male sdHR = 1.41, 95% CI 1.31, 1.52; female sdHR = 1.15, 95% CI 1.06, 1.26), divorced/separated (males: sdHR = 1.39, 95% CI 1.32, 1.46; females: sdHR = 1.17, 95% CI 1.06, 1.28), or never married (males: sdHR = 1.42, 95% CI 1.36, 1.49; females: sdHR = 1.15, 95% CI 1.05, 1.26). When stratified by oropharyngeal cancer vs. non-oropharyngeal HNC, unmarried males had 50-60% increased hazard of death, while no difference was found for females. Unmarried males also had greater odds of presenting with late-stage disease compared with females. No gender*marital status interaction was observed for adequate treatment, although married/partnered survivors had greater odds of receiving adequate treatment. CONCLUSIONS: While there are survival benefits for married patients with HNC, married/partnered males, especially those with oropharyngeal cancer, may benefit more than females.

Demographic predictors of head and neck cancer survival differ in the elderly.

OBJECTIVES/HYPOTHESIS: Head and neck squamous cell carcinoma (HNSCC) prognosis strongly correlates with demographic factors. This study aimed to determine whether demographic predictors of HNSCC survival differ between age cohorts, with an emphasis on the growing elderly demographic. STUDY DESIGN: Outcomes research. METHODS: Adults with squamous cell carcinoma of the upper aerodigestive tract were identified from the Surveillance, Epidemiology and End Results 18 database. Demographic and oncologic factors were compared between three age groups: 18 to 49, 50 to 74, and >75 years. Factors associated with cancer-specific survival were assessed in each cohort using subdistribution hazard ratio (sHR) and 95% confidence interval (CI) produced by multivariate competing risk models. RESULTS: A cohort of 69,098 patients included 10,588 (15.3%) 75 years or older and 9,882 (14.3%) less than 50 years old. Older patients were more often female (35.4% vs. 25.1% aged 18-49 years and 20.4% aged 50-74 years), white (78.7% vs. 69.4% and 75.9%), insured (63.5% vs. 46.5% and 56.8%), and married (56.6% vs. 53% and 51.1%), but received adequate treatment less often (72.0% vs. 86.3% and 82.7%). In the older cohort, male sex was associated with lower mortality (sHR: 0.92, 95% CI: 0.85-1.00), and unlike the younger cohorts, black race was no longer associated with mortality (sHR: 1.07, 95% CI: 0.94-1.22). Marriage was associated with lower mortality in all age groups but with diminishing effects (single sHR: young 1.52, middle 1.31, older 1.14). CONCLUSIONS: Elderly HNSCC patients have distinct effects from demographic prognostic factors and should be considered a separate subgroup with unique epidemiology, risks, and preferences. LEVEL OF EVIDENCE: 2c Laryngoscope, , 129:146-153, 2018.

Immigration within the United States: prevalence of childhood hearing loss revisited.

PURPOSE: As more adult and child immigrants enter the United States each year, there is a high likelihood that the prevalence of childhood hearing loss in the United States is underestimated, given estimations of the number of immigrant children entering the country with hearing loss. METHOD: Information was collected using online search engines and peer-reviewed journals. The most recent articles available through search engines included in EBSCOhost at the time were used. The gathered data were organized by emigrating country, and the 2 countries with the highest immigration rates were presented. Estimations of the number of children immigrating with hearing loss were made using data from published peer-reviewed articles and government reports on immigration. CONCLUSIONS: The prevalence of hearing loss in the United States is underestimated when considering undetected hearing loss in immigrant children. The addition of the immigrant children from only Mexico and China presents a 7.5% increase in the total number of children in the United States with hearing loss. This reinforces the importance of early detection of hearing loss in these children, resulting in more accurate estimation of the rate of childhood hearing loss in the United States and better planning for intervention programs.