The Usefulness of Dermoscopy for the Recognition of Malignant Collision Tumors.

BACKGROUND: Preoperative diagnosis of malignant collision tumors (MCT) is extremely difficult. The value of dermoscopy to improve the correct detection of these tumors has not been previously studied. This study aims to evaluate the diagnostic accuracy of MCT with and without dermoscopy and to describe the dermoscopic features of a large series of MCT. METHODS: Dermoscopic images of 161 MCT were evaluated. Clinical and dermoscopic images of histopathologically proven MCT intermingled with other tumors were randomly presented to clinicians with different levels of experience, blinded to the diagnosis and objective of the study. The clinical and dermoscopic diagnostic accuracies were measured separately. RESULTS: A total of 161 histopathologically proven cases of MCT were collected. The most frequent MCT was basal cell carcinoma-seborrheic keratosis collision tumor (CT; 37.9%), followed by basal cell carcinoma-melanocytic nevus CT (19.9%), and melanoma-seborrheic keratosis CT (6.8%). Diagnostic accuracy among experts on dermoscopy was 71.4%. The study included 119 participants. The percentage of correct diagnoses was 8% by naked eye examination and 36.4% by dermoscopy (p < 0.001). The presence of the malignant component in the cases of MCT was not recognizable in 19.1% of cases by naked eye examination and in 11.8% of cases by dermoscopy (p < 0.001). CONCLUSIONS: The diagnosis of MCT can be assisted and clarified by dermoscopy. However, many of these lesions manifest complex morphologies and continue to be challenging, even for experts on dermoscopy. Atypical, uncertain, or non-classifiable lesions still need a complete excision for the final diagnosis.

Meeting Treatment Goals in Patients on Extramural Dialysis in Health Social Security in Mexico.

INTRODUCTION: For the majority of renal replacement therapy history, the main treatment option for patients with end-stage renal disease (ESRD) in Mexico has been peritoneal dialysis. However, the use of hemodialysis is overwhelmingly increasing, driving public health care institutions to subrogate this service. Even when the actual hiring model for subrogation is accurate, there is a lack of quality control points in the hemodialysis prescription, poor adherence to clinical practice guidelines, and a few or no record of outcomes in hemodialysis patients of these subrogated services. The objective of this work is to fill this information gap to allow for uniform and safe hemodialysis for patients of Mexico. MATERIAL AND METHODS: An observational and cross-sectional study was performed, including all patients receiving chronic hemodialysis treatment in subrogated units of Mexican Social Security Institute (IMSS) in the northern region of Mexico City. Clinical and biochemical data as well as hemodialysis dose by Kt/V and urea reduction rate were collected and evaluated. To determine distribution, mean or median and SD or interquartile range were used; for nominal variables, the difference in proportions was estimated using the χ2 test; proportions were analyzed for biochemical values using the statistical package SPSS version 25. RESULTS: In our study, >60% (485) of the patients were anemic with an average hemoglobin of 9.39 mg/dL (SD ± 1.83); serum calcium was found below 8.4 mg/dL in 51.3% (383) of patients, and only in 45.8% (342) was at an optimal level of this parameter. Only 33.5% of patients have arteriovenous fistula for dialysis access. The hemodialysis dose was optimal in >75% of patients. CONCLUSIONS: It is necessary to enhance and monitor treatment of comorbidities in patients with ESRD in subrogated hemodialysis units in México. We observed adequate prescription of hemodialysis in a majority of patients, achieving quality control points for removal of nitrogen products. Yet, there is a lack of quality control of comorbidities; therefore, we should aim to optimize treatment for mineral-bone disorder, anemia, and nutritional status.

Expanding the phenotypes of congenital hemangiomas.

Congenital hemangiomas (CH) are benign vascular tumors that are present at birth and do not stain for the marker Glut-1. Herein, we describe five cases of CH with atypical presentations: 3 with late growth, 1 with slow involution, and 1 that partially involuted rapidly then manifested late growth.

Change in the Pattern of Posttransplantation Anemia in Kidney Receptors: Sex Role in Recipients and Type of Donor.

OBJECTIVE: Posttransplant anemia (PTA) in kidney recipients is a complication that has repercussions mainly of cardiovascular consequence. The objective of this study is to determine the prevalence of anemia, as well as the relationship between kidney recipient and donor sex, in the presence or absence of anemia at 12 months after kidney transplant (KT). MATERIAL AND METHODS: Observational, longitudinal study of KTs made over a 5-year period, from 2013 to 2017, in a renal transplant unit from La Raza National Health Care Medical Center. Three hundred twenty-eight records were analyzed. Hemoglobin (Hb) and the presence or absence of anemia according to the definition by the World Health Organization were analyzed. The association between kidney recipient sex and donor type (living or deceased) was evaluated. Analysis of central tendency and dispersion were performed and the mean difference was established with χ2 test or Student t test. Significance level was set at P < .05. RESULTS: The mean Hb (standard deviation) before KT was 10.38 (2.16) g/dL; Hb at 12 months was 14.47 (2.37) g/dL with an absolute increase of 4.09 g/dL. Before KT, male kidney recipients had a mean Hb of 10.54 (2.17) g/dL. At 12 months post-KT, mean Hb was 15.33 (2.25) with a change of 4.79 g/dL. Before KT, female kidney recipients had a mean Hb of 10.16 (2.13) g/dL. At 12 months post-KT, mean Hb was 13.31 (2.01) with a change of 3.15 g/dL. The difference between both sexes was 1.64 g/dL at the end of 12 months. Sixteen out of 152 (10.5%) patients had a serum creatinine (Cr) < 1.2 mg/dL and anemia; 36 out of 176 (20.5%) patients had a Cr ≥ 1.2 mg/dL and anemia (P = .014). In the bivariate logistic regression with an odds ratio of 2.047 (95% confidence interval, 1027-4078; P = .042) for higher Cr levels and the presence of persistent anemia. CONCLUSIONS: There is a prevalence of anemia in female kidney recipients and recipients of kidneys from deceased donors. There is a higher risk of persistent anemia in the case of patients with some degree of graft failure at 12 months.

Prevalence of presentation of some zoonotic agents transmitted by canines and felines in Medellín, Colombia / Prevalencia de presentación de algunos agentes zoonóticos transmitidos por caninos y felinos en Medellín, Colombia

ABSTRACT Objective. To determine in Medellín, Colombia, the prevalence of zoonotic agents in canines and felines. Materials and methods. 1501 individuals were sampled for the analysis of zoonotic gastrointestinal parasites by direct coprology and flotation. 500 canine sera were examined by PARP-2ME and MAT for the diagnosis of Brucella canis and Leptospira sp, respectively. 500 feline sera were processed by IFI for the diagnosis of Toxoplasma gondii. The frequency for each zoonosis and the statistical significance for the different variables were established (p≤0.05; OR≥1; 95% CI). Results. 23.6% of canines and 16.3% of felines were positive for gastrointestinal parasites; Ancylostomids and D. caninum were the most prevalent; species, age, sex, sector, socioeconomic level and the month of sampling showed associations with gastrointestinal parasitism in pets. Canines showed a seroprevalence of 6.6% in B. canis and 8.4%, Leptospira sp; in felines 56.2% for T. gondii. All of the above associated with the commune, month of sampling, age and stratum. Conclusions. Pets located in different communes and socioeconomic strata with lower quality of life conditions represent a risk of zoonotic transmission.

RESUMEN Objetivo. Determinar la prevalencia de agentes zoonóticos en caninos y felinos en Medellín, Colombia. Materiales y métodos. Se muestrearon 1501 individuos para el análisis de parásitos gastrointestinales zoonóticos por medio de coprología directa y flotación. Se examinaron 500 sueros caninos por medio de PARP-2ME y MAT para el diagnóstico de Brucella canis y Leptospira sp, respectivamente. Se procesaron 500 sueros felinos por medio de IFI para el diagnóstico de Toxoplasma gondii. Se estableció la frecuencia para cada zoonosis y la significancia estadística para las diferentes variables (p≤0.05; OR≥1; IC 95%). Resultados. El 23.6% de los caninos y 16.3% de los felinos fueron positivos a parásitos gastrointestinales, siendo los Ancylostomideos y D. caninum los más prevalente, respectivamente; la especie, edad, sexo, sector, estrato socioeconómico y el mes de muestreo presentaron asociaciones con el parasitismo gastrointestinal en mascotas. En caninos se evidenció una seroprevalencia del 6.6% para B. canis y 8.4% para Leptospira sp; en felinos del 56.2% para T. gondii. Todas las anteriores asociadas con la zona de muestreo, mes, edad y estrato. Conclusiones. Las mascotas ubicadas en diferentes comunas y estratos socioeconómicos con condiciones de calidad de vida menores representan un riesgo de transmisión zoonótica.

Sensitivity, Specificity and Reliability of the RIPASA Score for Diagnosis of Acute Appendicitis in Relation to the Alvarado Score. / Sensibilidad, especificidad y fiabilidad de la escala RIPASA en el diagnóstico de apendicitis aguda en relación con la escala de Alvarado.

INTRODUCTION: In order to avoid delay in the diagnosis of acute appendicitis and reduce the margin of error, the use of scales has been used. The aim of this study was to compare the effectiveness of the Alvarado and RIPASA scores in the clinical diagnosis of acute appendicitis and to correlate with the histopathological results. METHODS: Prospective, longitudinal, analytical, comparative and observational study. Patients with abdominal pain syndrome suggestive of acute appendicitis and submitted to surgical intervention were included; the Alvarado and RIPASA scores were simultaneously applied. The pathology report was obtained and the efficacy of both scores for the diagnosis of acute appendicitis was compared. RESULTS: One hundred patients were included. It was shown that the RIPASA score demonstrated greater diagnostic accuracy compared to the Alvarado score, with sensitivity of 98,8% and specificity of 71,4% versus 90,7% and 64,3%, respectively. The RIPASA score showed an area under the curve of 0,88 and the Alvarado scale of 0,80. CONCLUSIONS: The RIPASA score is a more specific, convenient and accurate system than the Alvarado score for the Mexican population.

Dermoscopy of lymphangioma circumscriptum: A morphological study of 45 cases.

BACKGROUND/OBJECTIVES: The dermoscopy of lymphangioma circumscriptum, also known as superficial lymphatic malformation, remains to be clarified. METHODS: Digital dermoscopic images of 45 histopathologically confirmed cases of lymphangioma circumscriptum collected from nine hospitals in Spain, Italy and Turkey were evaluated for the presence of dermoscopic structures and patterns. RESULTS: Our study shows that the most common structure found in lymphangioma circumscriptum was the presence of lacunae (89% of cases). The latter were red or dark-coloured in 18 cases (45%), yellowish or whitish in 14 cases (35%) and multicoloured in eight cases (20%). The second most common dermoscopic structure was the presence of vascular structures, which were found in 82% of cases, followed by white lines (47%), the hypopyon sign or two-tone lacunae (42%) and scales (7%). CONCLUSIONS: Dermoscopy is useful in improving the diagnosis of lymphangioma circumscriptum with characteristic structures and patterns and could assist in elucidating the presence of blood in lymphatic channels.

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare autosomal recessive hereditary disease with a variable prognosis from lethal to very mild. EB-PA is classified into Simplex form (EBS-PA: OMIM #612138) and Junctional form (JEB-PA: OMIM #226730), and it is caused by mutations in ITGA6, ITGB4 and PLEC genes. We report the analysis of six patients with EB-PA, including two dizygotic twins. Skin immunofluorescence epitope mapping was performed followed by PCR and direct sequencing of the ITGB4 gene. Two of the patients presented with non-lethal EB-PA associated with missense ITGB4 gene mutations. For the other four, early postnatal demise was associated with complete lack of ß4 integrin due to a variety of ITGB4 novel mutations (2 large deletions, 1 splice-site mutation and 3 missense mutations). One of the deletions spanned 278 bp, being one of the largest reported to date for this gene. Remarkably, we also found for the first time a founder effect for one novel mutation in the ITGB4 gene. We have identified 6 novel mutations in the ITGB4 gene to be added to the mutation database. Our results reveal genotype-phenotype correlations that contribute to the molecular understanding of this heterogeneous disease, a pivotal issue for prognosis and for the development of novel evidence-based therapeutic options for EB management.

Dermoscopy of Targetoid Hemosiderotic Hemangioma: A Morphological Study of 35 Cases.

BACKGROUND: Targetoid hemosiderotic hemangioma is an uncommon, vascular, benign solitary lesion of lymphatic origin that can be misdiagnosed as other tumors including melanomas. OBJECTIVES: To evaluate the dermoscopic features of a large series of targetoid hemosiderotic hemangiomas. METHODS: Digital dermoscopic images of 35 histopathologically confirmed cases of targetoid hemosiderotic hemangiomas collected from 7 hospitals in Spain and Italy were evaluated for the presence of dermoscopic structures and patterns. RESULTS: The results of our study reveal that the presence of central red and dark lacunae and a peripheral circular reddish-violaceous homogeneous area is the most common dermoscopic pattern in targetoid hemosiderotic hemangioma (71.4%). The targetoid hemosiderotic hemangiomas of our study were correctly diagnosed in 77% of cases. CONCLUSION: Dermoscopy is helpful in improving the diagnosis of targetoid hemosiderotic hemangioma. However, attention must be paid to those cases that dermoscopically may show nontargetoid patterns, which often mimic other lesions, including melanoma.

Histologic and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome.

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly characterized autoinflammatory disorder, caused by mutations in PSMB8. It is characterized by early-onset fevers, accompanied by a widespread, violaceous, and often annular cutaneous eruption. Although the exact pathogenesis of this syndrome is still obscure, it is postulated that the inflammatory disease manifestations stem from excess secretion of interferons. Based on preliminary blood cytokine and gene expression studies, the signature seems to come mostly from type I interferons, which are proposed to lead to the recruitment of immature myeloid cells into the dermis and subcutis. In this study, we systematically analyzed skin biopsies from 6 patients with CANDLE syndrome by routine histopathology and immunohistochemistry methods. Skin lesions showed the presence of extensive mixed dermal and subcutaneous inflammatory infiltrate, composed of mononuclear cells, atypical myeloid cells, neutrophils, eosinophils, and some mature lymphocytes. Positive LEDER and myeloperoxidase staining supported the presence of myeloid cells. Positive CD68/PMG1 and CD163 staining confirmed the existence of histiocytes and monocytic macrophages in the inflammatory infiltrate. CD123 staining was positive, demonstrating the presence of plasmacytoid dendritic cells. Uncovering the unique histopathological and immunohistochemical features of CANDLE syndrome provides tools for rapid and specific diagnosis of this disorder and further insight into the pathogenesis of this severe life-threatening condition.

Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.

The H syndrome (OMIM 612391) is an autosomal recessive disorder characterized by hyperpigmentation, hypertrichosis, histiocytosis and short stature. It is caused by mutations in the SLC29A3 gene, which encodes for the equilibrative nucleoside transporter 3 protein (ENT3), of still uncertain subcellular localisation. Here we report a new case of H syndrome with the novel mutation c.243delA, which has been concomitantly described by others [A. Bolze, A. Abhyankar, A.V. Grant, B. Patel, R. Yadav, M. Byun, D. Caillez, J.F. Emile, M. Pastor-Anglada, L. Abel, A. Puel, R. Govindarajan, L. de Pontual, J.L. Casanova, A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant, PLoS ONE 7 (2012) e29708]. Patient-derived primary skin fibroblasts and B-lymphoblastoid cell lines (B-LCL) were obtained and, although no differences were found in mRNA levels of ENT3, a significant increase in plasma membrane equilibrative transport activity was found in fibroblasts from the patient. Loss of function of key proteins implicated in nucleoside metabolism can lead to mitochondrial DNA (mtDNA) depletion syndromes (MDS). Measurement of respiratory chain complex activity revealed that mitochondrial function was unaltered. Neither fibroblasts nor B-LCL showed mtDNA depletion when compared with controls. Fibroblasts and B-LCL from the patient were not particularly protected when mitochondrial damage was induced using nucleoside-derived drugs susceptible to being transported by ENT3. Analysis of mtDNA amounts in tissues obtained at autopsy proved inconclusive with respect to mitochondrial involvement in the pathogenesis of this syndrome. Overall, the data do not support the inclusion of H syndrome among the MDS and these findings are compatible with its recent inclusion among the lysosomal storage diseases.

Mutations in proteasome subunit ß type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

OBJECTIVE: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome) is an autoinflammatory syndrome recently described in children. We undertook this study to investigate the clinical phenotype, genetic cause, and immune dysregulation in 9 CANDLE syndrome patients. METHODS: Genomic DNA from all patients was screened for mutations in PSMB8 (proteasome subunit ß type 8). Cytokine levels were measured in sera from 3 patients. Skin biopsy samples were evaluated by immunohistochemistry, and blood microarray profile and STAT-1 phosphorylation were assessed in 4 patients and 3 patients, respectively. RESULTS: One patient was homozygous for a novel nonsense mutation in PSMB8 (c.405C>A), suggesting a protein truncation; 4 patients were homozygous and 2 were heterozygous for a previously reported missense mutation (c.224C>T); and 1 patient showed no mutation. None of these sequence changes was observed in chromosomes from 750 healthy controls. Of the 4 patients with the same mutation, only 2 shared the same haplotype, indicating a mutational hot spot. PSMB8 mutation-positive and -negative patients expressed high levels of interferon-γ (IFNγ)-inducible protein 10. Levels of monocyte chemotactic protein 1, interleukin-6 (IL-6), and IL-1 receptor antagonist were moderately elevated. Microarray profiles and monocyte STAT-1 activation suggested a unique IFN signaling signature, unlike in other autoinflammatory disorders. CONCLUSION: CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults. We extend the clinical and pathogenic description of this novel autoinflammatory syndrome, thereby expanding the clinical and genetic disease spectrum of PSMB8-associated disorders. IFN may be a key mediator of the inflammatory response and may present a therapeutic target.

Childhood discoid lupus in identical twins.

We report the exceptional case of 11-year-old identical male twins who both developed discoid lupus erythematosus lesions. Although systemic lupus erythematosus has often been reported in identical twins, discoid lupus erythematosus has only occasionally been described, with only one other case in twin children, as far as we are aware.

Temporary localized hypertrichosis after henna pseudotattoo.

We report the case of a 5-year-old boy who had a temporary dragon-shaped henna pseudotattoo, reinforced 4 days later. Two weeks later, as the pseudotattoo began to disappear, hypertrichosis developed in the area corresponding to the previous psuedotattoo. Skin biopsy showed an increase in vellus hair follicles, with slight peripheral fibrosis. After 4 months, the hypertrichosis resolved spontaneously.

Perforating neutrophilic and granulomatous dermatitis of the newborn--a clue to immunodeficiency.

We report two newborns with a widespread cutaneous eruption consisting of discrete papules which evolved into vesicles, pustules, crusts, and ulcers. These healed over a 2-week period with scarring. Histopathology showed three main features--histiocytic granulomas, neutrophilic infiltration, and transepidermal elimination of degenerated collagen and debris through hair follicles. Both patients had congenital immunodeficiency. This skin condition of the newborn, with distinct clinical and histopathologic features, is a manifestation of immunodeficiency that has not been previously described.

[Spindle-cell carcinoma in situ treated with 5% imiquimod]. / Carcinoma espinocelular in situ tratado con imiquimod al 5 %

We present the case of a 70-year-old woman with no personal history of interest who presented to her physician with a plaque in the right infraumbilical region whose largest diameter measured nine centimeters. The clinical and histological diagnosis was Bowen's disease. She was treated with 5 % imiquimod cream, once a day, four times a week, for eight weeks, with an excellent response. One year after treatment, no new lesions have appeared in the treated area.

Cytokine production, activation marker, and skin homing receptor in children with atopic dermatitis and bronchial asthma.

T cells are known to develop a critical role in the pathogenesis of atopic dermatitis (AD) and bronchial asthma. T cells involved in AD express the skin homing receptor CLA, but no lung homing receptor has been identified in bronchial asthma. We compared different cell markers and the cytokine production in T cells from children with AD or bronchial asthma. We studied the involvement of CLA+ and CLA- T-cell subpopulations in these diseases. We studied 20 children with acute AD lesions, 15 with mild persistent asthma, and 15 non-atopic controls. All patients were sensitized to house dust mite (DP) and evaluated during the acute phase. Total and specific IgE were measured by immunoassay and the expression of different cell markers and the cytokine production was analyzed by flow cytometry in peripheral blood mononuclear cells. Total IgE was significantly higher in AD children and IgE to DP in the asthmatic children. There was a significant increase in CD25+ CD4+ cells in asthmatic children and in HLA-DR+ CD4+ and HLA-DR+ CD8+ cells in AD. In the CD4+ subsets, there was an increase in IL-13, IL-5 and TNF-alpha in AD compared to controls, a decrease in IFN-gamma in asthmatic children compared to controls, and an increase in IL-13, IL5, IL2, TNF-alpha, and IFN-gamma in the AD compared to asthmatic children. Changes in cytokine production were mainly detected in CLA+ cells in AD and in CLA- cells in asthma. Differences exist in total and specific IgE, activation markers, and cytokine patterns between AD children and children with asthma, with the former expressing a Th2 pattern whereas in asthmatic children we only detected a decrease in IFN-gamma. Moreover, the subpopulations (CLA+ vs. CLA-) expressing these changes were different, indicating that the underlying mechanisms in the two diseases are not exactly the same.

[Linear Darier disease]. / Enfermedad de Darier lineal.

Darier disease is a genodermatosis with a pattern of autosomal dominant inheritance, which occasionally presents by following a linear or segmental pattern. We present the case of a 22-year-old woman who had presented for three years with small, linearly distributed, yellowish-brown papules on the right lower extremity, with no other skin, mucous membrane or appendage involvement. She had no personal or family history of any interest. Histologically, suprabasal acantholysis and abundant dyskeratotic cells were seen. All of this data led to the diagnosis of linear Darier disease.