Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

PURPOSE: CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. METHODS: CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. RESULTS: Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. CONCLUSION: The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727-736.

Treponema pallidum PCR with blood and cerebrospinal fluid of newborns exposed and not exposed to syphilis during pregnancy.

INTRODUCTION: Congenital syphilis (CS) has severe adverse outcomes, including abortion and death. Diagnosis of CS in asymptomatic newborns remains difficult. This study aims to evaluate an in-house polymerase chain reaction (PCR) on cerebrospinal fluid (CSF) and blood samples (BS) to identify T. pallidum DNA in newborns. METHODOLOGY: We performed an exploratory cross-sectional study that included newborns exposed to syphilis during pregnancy (SEG) and non-exposed (SNEG) newborns, between 2019 and 2020. In-house conventional PCR for T. pallidum targeting the tpp47 gene was used to analyze CSFS and dried blood spots. RESULTS: BS was obtained from 54 newborns (33 SEG/21 SNEG) and CSF from 55 newborns (33 SEG/22 SNEG). Twenty-five (71.4%) SEG newborns had reactive BS rapid plasmatic reagins (RPR), and all of them had RPR titers less than or equal to the corresponding maternal titers. All RPR CSF tests were negative. PCR for T. pallidum DNA was positive in 19/33 (57.6%) BS, and in 22/33 CSF. The only SEG newborn with clinical signs of early CS had a positive CSF PCR and a negative BS PCR. Conversely, among SNEG newborns, PCR was positive in 2/21 BS and 5/22 (22.7%) CSF. CONCLUSIONS: T. pallidum DNA was identified using our PCR tests. The exposed group did not present abnormalities that would indicate CS. This prevented conclusions regarding sensitivity and specificity. Dried spot permitted bedside collection, easy transportation, and storage. Further research is needed to evaluate and improve the accuracy of CS low-cost PCR tests, especially for limited resource settings.

Cutaneous Manifestations in Patients With COVID-19 Treated at a University Hospital in Southern Brazil.

Objectives The aim of this study was to ascertain whether pattern of cutaneous lesions, age, sex, ethnicity, long-term medication use, arterial oxygen saturation at the first examination, setting of care, and number of medications used to treat SARS-CoV-2 infection are associated with mortality in patients with a confirmed diagnosis of coronavirus disease 2019 (COVID-19) and cutaneous manifestations. In addition, to evaluate the occurrence of cutaneous manifestations in patients with a confirmed diagnosis of COVID-19 through a review of medical records and in-person evaluation by a dermatologist. Methods This investigation consisted of two components - (A) a cross-sectional study with a retrospective review of the medical records of all patients with a positive reverse-transcriptase polymerase chain reaction (RT-PCR) test for SARS-CoV-2 treated at Santa Casa de Misericórdia de Porto Alegre between March 2020 and November 2020, and (B) a prospective case series with in-person skin examination by an attending dermatologist of all patients admitted to COVID-19 wards between April 2021 and July 2021. The pattern of skin lesions and other variables were assessed. Results Information from 2968 individuals with COVID-19 was collected (2826 from the medical records and 142 from the in-person examination by a dermatologist). Of these, a total of 51 patients (1.71%) had COVID-19-related cutaneous lesions - 36 from the medical records group (1.27% of cutaneous manifestations) and 15 from the examinated group (10.56% of cutaneous manifestations). Of 51 patients, 15 (29.41%) died. There was no association between mortality and patterns of cutaneous manifestations. The variables male sex (p=0.021), intensive care unit (ICU) admission (p=0.001), and use of three or more antibiotics (p=0.041) were associated with higher mortality. Conclusions The risk factors, proven by our study, for mortality in patients with COVID-19 and cutaneous manifestations were male sex, ICU stays, and use of three or more antibiotics. Using the review of medical records as a tool for evaluating cutaneous manifestations related to COVID-19, there are about 10 times fewer occurrences when compared to in-person evaluation by a dermatologist.

Allogeneic skin donors from a tissue bank in Southern Brazil: clinical and epidemiological profiles and microbial colonization of skin.

BACKGROUND: An allogeneic human skin graft is a temporary biologic dressing used in extensive burns that can be a providential treatment for affected patients. Skin quality depends directly on its microbial decontamination after processing in a tissue bank. Our objective was to describe the skin donor profiles in relation to the analysis of the microbial colonization of the donated skin. METHODS: This clinical study includes epidemiological and microbiological data on skin donors from 2012 to 2014. The donor information database was compiled from the medical records of skin donors filed in the tissue bank. The donors were assessed regarding the microbial colonization of the skin at the time of processing in the tissue bank. RESULTS: We found a statistically significant association (P = 0.020) between lower average age of the donor and the presence of microbial colonization. We observed that Gram-negative bacteria (GNB) are associated with male gender (P = 0.015), source hospital A (P = 0.034), and over 7 days stay in an intensive care unit (ICU) (P = 0.001). We also observed that Staphylococcus aureus is associated with skin-harvesting hospital C (P = 0.034) and that Gram-positive bacilli (GPB) are associated with up to 7 days stay in an ICU (P = 0.009). CONCLUSIONS: We found significant associations between the type of microorganism colonizing the skin and the epidemiological and clinical profiles of the donors. This information is extremely important when determining the potential use of skin source and so optimizing the donation of allogeneic skin for transplantation.

Could a specific dietary intake be a risk factor for cutaneous melanoma?

The incidence of cutaneous melanoma (CM) has increased in the last decade. Some risk factors are well known, but there are other possible risk factors being studied, such as those involving nutrition. The objective of this case-control study was to assess the association between diet and CM. Classical risk factors, dietary intake, and body mass index were assessed. Binary logistic regression was used to study the association between dietary intake and the risk for CM. Classical risk factors associated with CM were confirmed. The findings suggest that some foods rich in vitamins A and D and phytochemicals may be related to CM.

Clinical study of 20 patients with incontinentia pigmenti.

BACKGROUND: Incontinentia pigmenti (IP) is a rare genodermatosis with early prenatal lethality in affected males. Clinical manifestations are usually more exuberant in sporadic than in familial cases. Cutaneous manifestations occur in all sporadic cases and about 96% of familial cases. As well as the skin, other tissues arising from the neuroectoderm may be affected. OBJECTIVES: This study was designed to evaluate dermatologic, dental, neurologic, and ophthalmologic manifestations in patients with IP. METHODS: Findings in IP patients and family members also diagnosed with IP in Porto Alegre, Brazil, during 2003-2012, were analyzed. RESULTS: Thirteen children and seven relatives were diagnosed with IP; 38.4% of cases were familial, and 61.5% were sporadic. Mean ± standard deviation follow-up was 46.08 ± 39.47 months. Frequencies of 100% and 85.7% for dermatologic manifestations, 23.0% and 0% for neurologic manifestations, 62.5% and 71.4% for dental manifestations, and 11.1% and 42.8% for ophthalmologic manifestations were found in affected children and relatives, respectively. Associated diseases include Wilms' tumor, myasthenia gravis, Still's syndrome, and congenital hypothyroidism. CONCLUSIONS: These findings reinforce the heterogeneity of dermatologic findings and the numerous extracutaneous manifestations requiring a multidisciplinary approach. The follow-up of patients with IP is important in the detection of serious associated diseases. The relationships between these disorders and IP raise the need for additional longitudinal studies with longterm monitoring of these patients. The management of IP in clinical practice may benefit from early efforts to detect associated diseases.

Primary cutaneous lymphoma in southern Brazil: a 12-year single-center experience.

BACKGROUND: Primary cutaneous lymphomas (PCL) are a group of extranodal non-Hodgkin lymphomas presenting with no evidence of extracutaneous disease at the time of diagnosis. Few longitudinal studies of PCL have been conducted, particularly in South American populations. Our objective was to describe the behavior of PCL and evaluate patient survival in a cohort of patients from southern Brazil. METHODS: We conducted a retrospective cohort study of all patients with a histopathological diagnosis of PCL receiving care at a tertiary referral center in southern Brazil from 2000 to 2012. Clinical, laboratory, and histopathological data, treatment variables, and survival curves were analyzed. RESULTS: Eighty-nine patients with PCL were included, with a mean age at diagnosis of 58.9 years. Cutaneous T-cell and natural killer (NK) cell lymphomas (CTCL/NKCL) accounted for 78.4% of cases and cutaneous B-cell lymphomas (CBCL) for 21.6%; 57.4% of patients with CTCL/NKCL and 50% of patients with CBCL were male. Half of all cases were mycosis fungoides (MF). The 5-year survival rate was 74.8% for MF, 61% for Sézary syndrome, 87.5% for primary cutaneous CD30+ lymphoproliferative disorders, and 88.9% for primary cutaneous follicle center lymphoma. CONCLUSIONS: In this cohort of patients with PCL from southern Brazil, CTCL/NKCL was more prevalent than CBCL, and the MF subtype was predominant. Survival curves were similar to those reported in the literature, except for Sézary syndrome, which had a better prognosis in this sample.

Residential and occupational exposure to pesticides may increase risk for cutaneous melanoma: a case-control study conducted in the south of Brazil.

BACKGROUND: Incidences of primary cutaneous melanoma (CM) have risen over the last few decades, mainly among populations of White European extraction. Some risk factors for melanoma have been clearly established, but other potential risk factors, such as exposure to pesticides, are currently under study. METHODS: A case-control study on melanoma was conducted during 2012 and 2013 at three dermatological reference centers in Porto Alegre, Brazil. A total of 191 CM patients and sex- and age-matched control subjects were enrolled in the study. Data on domestic and occupational use of pesticides and the risk factors already established for CM were collected. Multivariate logistic regression was used to study the association between exposure to pesticides and melanoma risk. RESULTS: Subjects exposed to pesticides had twice the level of risk for melanoma (odds ratio [OR] 2.03, 95% confidence interval [CI] 1.03-6.89). When pesticides were used indoors for >10 years, the risk for CM increased further (OR 2.84, 95% CI 1.56-5.33). A high frequency of indoor use of pesticides (four or more times per year) was associated with a 44% increase in the risk for melanoma (OR 1.44, 95% CI 1.11-3.49). The domestic use of pesticides outdoors was not associated with increased risk. Subjects exposed to pesticides at an occupational level were at four times greater risk than subjects who were not occupationally exposed (OR 4.23, 95% CI 1.94-6.31). CONCLUSIONS: These findings indicate that the general use of pesticides, particularly indoor domestic use, frequently and over a long period, may be an independent environmental risk factor for CM.

Prevalence of community-acquired methicillin-resistant Staphylococcus aureus and antibiotic resistance in patients with atopic dermatitis in Porto Alegre, Brazil.

BACKGROUND: Atopic dermatitis (AD) is a skin manifestation of atopy caused by hyperreactivity to various antigens. Studies have shown that 60-100% of patients with this condition present with colonization by Staphylococcus aureus. Given increasing rates of antimicrobial resistance, the sensitivity to antimicrobials of S. aureus colonizing atopic patients has been investigated. Cross-sectional studies worldwide suggest that the prevalence of methicillin-resistant S. aureus infection (MRSA) in the AD population varies from 0% to 30.8%. OBJECTIVES: The objectives of this study were to determinate the prevalence of S. aureus and MRSA in patients with AD in two dermatologic centers in Porto Alegre, Brazil. METHODS: A total of 91 patients with AD attending two dermatologic centers in Porto Alegre were enrolled in this study from December 2009 to July 2011. Two skin swabs were taken from each patient, one from the nares and the other from a non-infected eczematous skin lesion. The swabs were sent to the laboratory, where standard procedures to isolate bacteria and identify S. aureus, antimicrobial resistance, and sensitivity patterns were carried out. The severity of AD was defined using the Eczema Area and Severity Index (EASI). RESULTS: Of the 91 patients sampled, 67 (73.6%) patients were found to be positive for S. aureus colonization. Nasal swabs were positive in 55 (60.4%) patients, lesional swabs in 44 (48.4%) patients, and both lesional and nasal swabs were positive in 32 (35.2%) patients. Patients with positive swabs had a higher mean ± standard deviation EASI score [mean (9.1 ± 8.8)] compared with patients with negative swabs (3.9 ± 3.6) (P = 0.002). None of the 91 patients showed any evidence of MRSA infection. Overall, nearly 32% of the S. aureus isolated from nasal swabs and 36.40% of the S. aureus isolated from lesional swabs was resistant to erythromycin. CONCLUSIONS: The results of this study confirm a high rate of S. aureus colonization in pediatric patients with AD and indicate a relevant association between colonization and high EASI score. No MRSA was found in cultures from this sample of patients in southern Brazil. Nearly one-third of isolates were identified as resistant to erythromycin, an antibiotic that is commonly used in pediatric patients.

Positivity for HLA DR1 is associated with basal cell carcinoma in renal transplant patients in southern Brazil.

BACKGROUND: Renal transplant patients have a higher incidence of non-melanoma skin cancer (NMSC). Previous studies hypothesized that human leukocyte antigen (HLA), especially types DR1, DR4, and DR7, may influence the incidence of these tumors. This study investigates the association between NMSC and the presence of HLA DR1, DR4, and DR7 in renal transplant patients in southern Brazil. METHODS: In a historical cohort study, 1032 patients who underwent renal transplantation during the period from January 1993 to December 2006 were examined to identify occurrences of NMSC and HLA status prior to transplant. RESULTS: Of the 1032 patients examined, 59 (5.71%) developed NMSC (squamous cell carcinoma [SCC]: 2.42%; basal cell carcinoma [BCC]: 1.74%; both: 1.55%). The presence of HLA DR1 was associated with a higher probability of developing any NMSC and particularly with developing BCC (P < 0.05). There was no statistically significant association between the presence of HLA DR4 or DR7 and the occurrence of NMSC in this sample. CONCLUSIONS: HLA DR1 appears to be associated with the development of BCC, as well as with the higher number of NMSC lesions in renal transplant patients. This study supports the trend to associate the DR1 allele with BCC and not with SCC.

Identificação e manejo das Famacodermias graves / Identification and management of severe famacodermias

: Esta artigo tem o objetivo de abordar o tema farmacodemias graves. Apresentaremos inicialmente o assunto de forma geral e após, a caracterização das formas graves e seu manejo. Esse tema é de extrema importância na clinica médica, pela sua frequencia e pelo seu alto potencial de morbi-motalidade.

Mucinose papular: manifestação incomum de dermatomiosite amiopática / Papular mucinosis: uncommon presentation of amyopathic dermatomyositis

Os autores relatam um caso de dermatomiosite amiopática com manifestação cutânea incomum do tipo mucinose papular. O diagnóstico de dermatomiositefoi baseado na clínica e no exame histopatológico cutâneo e a forma amiopática foi definida pela ausência de fraqueza muscular, exameslaboratoriais normais e pela ausência de sinais de miosite na eletroneuromiografia e na biópsia de músculo. A dermatomiosite amiopática representaum subtipo raro da doença. Um diagnóstico precoce depende do reconhecimento dos achados cutâneos clássicos e das manifestações raras, entre asquais a mucinose cutânea. Um correto diagnóstico do paciente colabora para o seu adequado manejo

The authors report a case of amyopathic dermatomyositis with uncommon papular mucinosis. The dermatomyositis diagnosis was based on clinicalfindings and skin biopsy and amyophathic presentation was defined by no clinical evidence of muscle weakness, normal laboratory results, electromyogramand muscle biopsy. Amyopathic dermatomyositis is a rare subtype of the disease. A prompt diagnosis of dermatomyositis depends on recognitionof classic cutaneous findings and rare presentations such as papular mucinosis. An accurate patient diagnosis contributes for the correct treatment