Genetic and dermoscopic findings in a case series of children with oculocutaneous albinism.

Oculocutaneous albinism (OCA) is a genetic disease caused by disorders in melanin synthesis or distribution. In this descriptive study conducted in a tertiary care pediatric hospital, patients with a clinical diagnosis of OCA and genetic study were retrospectively recruited and underwent dermatological and ophthalmological exam, including optical coherence tomography (OCT) and digital dermoscopy. Our findings revealed milder OCA phenotypic expression in individuals harboring single pathogenic mutations in conjunction with polymorphisms, as well as in those with mutations of uncertain significance. Regardless OCA subgroup, severe phenotypes of OCA were associated with a higher number of mutations/polymorphisms in melanin biosynthesis genes and paler dermoscopic patterns, such as vascular pattern, which was the most common pattern in our series.

Hidradenitis suppurativa and suicide risk: a multivariate analysis in a disease with a high psychological burden.

BACKGROUND: Hidradenitis suppurativa (HS) is a disorder that can lead to serious sequelae and important comorbidities. It has been associated with different mental health conditions, such as depression, anxiety or completed suicide. The objective is to analyze the suicide risk (SR) among patients in a monographic HS consultation, as well as to establish individual association factors. METHODS: Patients older than 18 years seen in our specific HS unit were consecutively included and invited to respond to the self-administered Beck hopelessness scale. Those patients with significant intellectual disabilities or severe mental health conditions, including a history of psychosis, were excluded. In addition, data related to the skin process were collected. Subsequently, it was studied whether there were significant differences between patients with absent-mild SR and those with moderate-severe SR and a logistic regression analysis was performed to determine the relationship of these variables with SR. RESULTS: A total of 136 patients were included in the study, 51.5% men. Of them, 21.3% presented a moderate or severe SR (score ≥ 9 in the Beck test). This risk was significantly related to having a previous or concomitant psychiatric disorder (OR = 2.586, 95% CI 1.044-6.409, p = 0.040) followed by the history of biological treatment (OR = 2.867, 95% CI 1.004-8.182, p = 0.049). The existence of other affected relatives was confirmed as a protective factor (OR = 0.377, 95% CI 0.150-0.951, p = 0.039). CONCLUSIONS: The prevalence of SR in patients with HS is higher than that of the general Spanish population. The presence of a psychiatric disorder and the need for biological treatment are established as factors that increase SR, both of which can be interpreted as a more advanced disease. As a protective factor, the presence of other cases in the family is established, which suggests a greater normalization of the disease.

Estimated projection of oral cavity and oropharyngeal cancer deaths in Spain to 2044.

BACKGROUND: Oral cavity cancer (OCC) and oropharyngeal cancer (OPC) are two common malignancies whose mortality is worryingly increasing worldwide. However, few studies have estimated the mortality trends for these cancers in the coming years. This study analysed the mortality rates for OCC and OPC observed between 1980 and 2019 to generate a predictive model for the next 25 years in Spain. METHODS: Mid-year population data and death certificates for the period 1980-2019 were obtained from the Spanish National Institute of Statistics. The Nordpred program (Norwegian Cancer Registry, Oslo, Norway) was used to calculate adjusted mortality rates as well as estimated mortality projections with an age-period-cohort model for the period 2020-2044. RESULTS: The specific mortality rate per 100,000 inhabitants for OCC decreased from 2.36 (1980-1984) to 2.17 (2015-2019) and is expected to decline to 1.68 (2040-2044), particularly in males. For OPC, mortality rates rose from 0.67 (1980-1984) to 1.23 (2015-2019) and are projected to drop to 0.71 (2040-2044). In the group of females > 65 years predictions showed rising mortality rates for both OCC and OPC. The predictive model projects more deaths in females than in males for OCC in the period 2040-2044, while deaths for OPC will decrease in males and gradually increase in females. CONCLUSIONS: Although OCC mortality rates have been found to decrease in males in the last observed decades, there is still room to improve them in females > 65 years in the future by promoting campaigns against smoking and alcohol consumption. OPC mortality will become a growing health problem. Vaccination campaigns for the prevention of human papillomavirus-associated cancers may have a long-term impact on the mortality of these cancers, which should be evaluated in upcoming studies. CLINICAL RELEVANCE: Our findings highlighted the importance of closely monitoring OCC and OPC mortality rates in the coming years by age group and sex, and the need to continue preventive measures against the main known risk factors, such as tobacco, alcohol, and human papillomavirus infection.

Systemic sclerosis mortality trends in Spain from 1980 to 2019: age-period-cohort and joinpoint analysis.

BACKGROUND: Systemic sclerosis (SSc) is an autoimmune chronic rheumatic disease with a high mortality rate, which continues to be a challenge for clinicians today. AIM: To assess changes in mortality trends in the Spanish SSc population between 1980 and 2019, taking into account the independent effects of sex, age, time period and birth cohort. METHODS: SSc death records and mid-year population data were collected from the National Statistics Institute. Age-standardized mortality rates were calculated for the overall population and for each sex (male, female) and age group (5-year groups). Significant changes in mortality trends were identified by joinpoint regressions. An age-period-cohort (APC) analysis and potential years of life lost (PYLL) analysis were performed to identify the burden of SSc. RESULTS: Age-standardized mortality rates due to SSc increased from 1.87 (95% CI 1.00-3.02) per 1 000 000 inhabitants between 1980 and 1984, to 2.47 (95% CI 1.74-3.02) per 1 000 000 inhabitants between 2015 and 2019. The relative risk of mortality fell in all groups in cohorts born after 1990. The PYLL rates showed a gradual rise for both sexes. CONCLUSION: There was an increase in overall SSc mortality in Spain during the 39 years evaluated, although there was a progressive drop for men.

Trends in mortality rates for oral and oropharyngeal cancer in Spain, 1979-2018.

OBJECTIVE: To analyse mortality rate trends in Spain for oral cavity and oropharyngeal cancer (OCOPC) from 1979 to 2018, evaluating differences between oral cavity cancer (OCC) and oropharyngeal cancer (OPC). MATERIALS AND METHODS: Death certificates and mid-year population data were collected from the Spanish National Statistics Institute. Age-standardized mortality rates were calculated using the direct method. Joinpoint regressions were used to identify significant changes in mortality trends. Independent effects of age, period and cohort (APC) were estimated. RESULTS: A total of 52,057 deaths were registered from OCOPC, 38,988 from OCC and 13,069 from OPC between 1979 and 2018. While OCC mortality rates declined, OCOPC rates increased slightly and OPC significantly. OCC and OPC mortality reached their highest values between 1979 and 1992, when OCC rates began to decrease in males and OPC levelled off until 2018. Lip cancer suffered the highest drop. APC models showed a mortality increase in males and females from 40 to 45 and 50 to 55 years of age, respectively. CONCLUSIONS: Favourable OCC mortality trends was plausibly influenced by decreased tobacco/alcohol consumption, while OPC rise was probably associated with increased human papillomavirus infection. The importance of closely monitoring these cancers by age group, sex and location, and continuing with preventive measures against known risk factors, is highlighted.

Non-Melanoma Skin Cancer Mortality in Spain: A Predictive Model up to 2044.

Non-melanoma skin cancers (NMSC) are the most common malignancies worldwide and are, worryingly, increasing in incidence. However, data in the literature on NMSC specific mortality are scarce, because these tumors are excluded from most mortality registries. The main objective of this study is to analyze NMSC's mortality rates and use them to generate a predictive model for the coming years in Spain. Data on mid-year population and death certificates for the period 1979-2019 were obtained from the Spanish National Statistics Institute. The Nordpred program (Cancer Registry of Norway, Oslo, Norway) within statistical program R was used to calculate mortality adjusted rates, as well as the mortality projection with an age-period-cohort model. This is the first study to report a prediction about NMSC mortality in the next years. According to our findings, the number of NMSC deaths in older people will grow in both sexes, especially in those older than >85 years old (y.o.). The age-specific mortality rates of NMSC will tend to stabilize or gradually decrease, with the exception of women between 75-79 y.o., who will present a slight increase at the end of the period. Early prevention and screening of NMSC specifically oriented to this population might change this tendency.

Mortality associated with non-melanoma skin cancer in Spain from 1979 to 2018: trends and age-adjusted rates.

Non-melanoma skin cancers (NMSCs) are the most frequent group of malignant tumours worldwide. Objectives: The aim of the present research was to analyse mortality associated with NMSC in Spain between 1979 and 2018 and highlight changes regarding trend in mortality and differences according to age groups and gender. Death records and mid-year population data were collected from the National Statistics Institute. Age-standardized mortality rates were calculated. Significant changes in mortality trends were identified using Joinpoint regression. The independent effects of age, period and cohort and potential years of life lost due to NMSC were also analysed. Mortality rates associated with NMSC in Spain were reported as 2.49 per 100,000 inhabitants in 1979 (95% CI: 2.24-2.77) and 1.27 per 100,000 inhabitants in 2018 (95% CI; 1.16-1.39) for the overall population. Women who were born after the 70 s showed a significant increase in relative risk of death due to NMSC. Mortality associated with NMSC in Spain shows a decreasing overall trend that appears to have stabilized since 2005, with the exception of women between 35 and 64 years old.

Melanoma mortality in Spain: predictions up to 2043.

BACKGROUND: Melanoma mortality rates are stabilizing and in certain regions and age groups are trending down. Although there are some studies that predict melanoma mortality in other countries, there are currently no studies that predict mortality in Spain in the coming years. The main aim of this study is to calculate melanoma mortality projections in Spain for the period 2019-2043. METHODS: This is a population-based ecological study that utilized information from the Spanish National Statistics Institute. Analysis included deaths as a result of cutaneous melanoma in Spain in the period 1979-2018, and data was analyzed according to gender and age group. Projections were made until 2043 in five-year periods, calculated in Nordpred (within the R software). RESULTS: Our estimates predict that in the period 2019-2043, there will be 30,477.9 deaths from melanoma in Spain, with the age group of >85 years being the group with the highest number of deaths. The expected average annual death rate for melanoma in both genders for the period 2019-2043 is 1,269.9 deaths / year. The predicted age-standardized mortality rates varied between 4.62/100.000 inhabitants in the 2019-2023 period and 3.94/100.000 inhabitants in the 2039-2043 period. CONCLUSIONS: Overall mortality rate and age-standardized melanoma death rates in older people of both genders will increase in the coming years in Spain, while rates in younger people will stabilize or decrease progressively. In the coming years, prevention efforts should focus on the young, but the emphasis should also be on educating the elderly in early detection of melanoma.

Trends in burn injury mortality in Spain (1979-2018): Sex-specific age-cohort-period effects.

BACKGROUND: Previous studies about burns mortality are often exclusively based on hospital and burn centre data. National population-based reports on this topic are rather limited. The aim of this study was to analyse sex- and age-specific mortality rates of burns in Spain during the period 1979-2018. METHODS: Age-standardised burns mortality rates were calculated from death records and mid-year population data were provided by the Spanish National Statistics Institute. Joinpoint regression analyses were used to identify significant points of change in trends over time and to compute average annual per cent change (AAPC). Age, period and cohort effects were also analysed. RESULTS: Mortality due to burn injury decreased in both sexes between 1979 and 2018: from the first quinquennium of this period up to the last one age-adjusted mortality rates decreased from 1.37 to 0.49 per 100,000 in men and from 0.96 to 0.26 per 100,000 in women. CONCLUSIONS: Burns mortality rates in Spain have been decreasing during the last decades. Promotion of primary prevention measures should continue.

Primary cutaneous carcinosarcoma: clinical, histological, and immunohistochemical analysis of eight cases.

BACKGROUND: Cutaneous carcinosarcoma is a rare biphasic tumor comprising malignant epithelial and heterologous mesenchymal elements. Data on the clinical and histopathologic characteristics of this tumor are scarce. The objective of this study was to describe the clinicopathologic and immunohistochemical features of cutaneous carcinosarcoma. METHODS: A descriptive retrospective study was conducted in a tertiary care hospital from Spain. We reviewed the records of eight patients with cutaneous carcinosarcoma who were diagnosed from 2009 to 2019. RESULTS: The mean patient age at diagnosis was 72.13 years (range 44-91 years), and there was a male predilection (6 cases). The most common site of cutaneous carcinosarcoma was the head and neck (5 cases). Carcinosarcomas demonstrated variable histopathological and immunohistochemical features. Follow-up was available for 7-8 patients. There were two cases of local recurrence and one case of metastasis. Two patients died from the tumor during the entire follow-up. CONCLUSIONS: Although the number of cases in this study was limited, our results provide valuable insight into the clinical, histopathologic, and immunohistochemical characteristics of primary cutaneous carcinosarcoma.

Cutaneous malignant melanoma mortality in Andalusia from 1979 to 2018. Toward new perspectives?

Malignant melanoma accounts for 80% of deaths due to skin cancer. Its incidence is globally increasing. However, melanoma mortality seems to be decreasing. The aim of this study was to analyze mortality rates due to melanoma in Andalusia between 1979 and 2018. Deaths due to melanoma and mid-year population in Andalusia were collected from the National Institute of Statistics. Age-adjusted mortality rates were calculated for overall population and for each sex and age group. Regression models were used to calculate significant points of change. Sex ratio and the independent effects of age, period, and cohort were also analyzed. Age-adjusted mortality due to melanoma rose from 0.61 to 1.94 deaths per 100.000 from 1979 to 2018 for the overall population. A significant change of trends was detected around 1994 when, after a steady rise from 1979, mortality rates stabilized up to the end of the period studied. The cited increase was more pronounced in >64 year males. From the end of the 2000s, there was a decrease in mortality rates to date in all population groups, producing a period effect. A stabilization in melanoma mortality rates was observed in Andalusia from 1994 with a decrease in some groups at the beginning of the 21st century. Trends observed in Andalusia do not differ substantially from those in Spain. The development of new therapies and an earlier diagnosis may have an influence in those changes. Studies that compare differences between Spanish regions are needed to define better prevention strategies.

Trends in mortality from lupus in Spain from 1980 to 2018.

BACKGROUND: Recent studies suggest that Systemic lupus erythematosus (SLE) mortality rates in Spain are decreasing. However, SLE mortality in Spain has been poorly studied. The purpose of study is to assess the temporal trends of mortality rates in the Spanish population with SLE from 1980 to 2018. METHODS: Death records and mid-year population data were collected from the National Statistics Institute. Age-standardized mortality rates were calculated for overall population and for each sex and age group. Significant changes in mortality trends were identified by Joinpoint regressions. Also, an Age-period-cohort (APC) and Potential Years of Life Lost (PYLL) analysis was carried out to know the burden of SLE disease. RESULTS: The overall SLE mortality rates in Spain has experimented an increased through the last 39 years. Mortality rates from the period 1980-1984 was 0.83 per 1.000.000 inhabitants, reaching the value to 1.77 cases per 1.000.000 from the period 2014-2018. A decreasing trend has been observed since 1999. CONCLUSIONS: SLE mortality rate has increased in Spain between 1980 and 1999, with a sustained decrease up to our days.