Mucocutaneous Manifestations in Autoimmune Gastritis: A Prospective Case-Control Study.

INTRODUCTION: Autoimmune gastritis (AIG) is associated with nutritional deficiencies, autoimmune diseases, and gastric malignancies. The aims of the study were to test the hypothesis that mucocutaneous (MC) manifestations occur more often in patients with vs without AIG and to delineate patterns of MC manifestations in AIG. METHODS: A single-center, prospective 2:1 case-control study was conducted. Cases were patients with the diagnosis of AIG based on consistent serologic and histologic findings. Controls had a normal gastric biopsy. MC manifestations were independently evaluated by 3 experienced dermatologists. We conducted a multivariable logistic regression model adjusted for age, sex, Helicobacter pylori, tobacco use, and alcohol consumption to estimate the association between AIG (vs no AIG) and MC manifestations (adjusted odds ratio; 95% confidence interval). RESULTS: We prospectively enrolled 60 cases and 30 controls (mean age 53.5 ± 15.8 vs 53.4 ± 14.5 years; 75% vs 73.3% women). The pooled prevalence of MC immune-mediated diseases was higher in patients with vs without AIG (66.7% vs 23.3%; adjusted odds ratio 12.01 [95% confidence interval: 3.51-41.13]). In patients with AIG, seropositive vs seronegative anti-intrinsic factor antibodies more often had concomitant immunological diseases with MC manifestations (100% vs 58.5%; P = 0.016). The most common MC immune-mediated diseases in AIG were Sjögren syndrome (n = 5, 8.3%), alopecia areata (n = 5, 8.3%), and vitiligo (n = 4, 6.7%). Nutritional deficiency-related MC findings, mainly xerosis, lingual, and nail disorders, were also more common in AIG. DISCUSSION: This is the first comparative study specifically designed to evaluate MC manifestations in AIG. We demonstrated that AIG is more frequently associated with both immune- and nutritional deficiency-related MC manifestations, which might have both diagnostic and therapeutic clinical implications.

[Chilean clinical guideline for the management of hidradenitis suppurativa - executive summary]. / Guía clínica chilena para el estudio y tratamiento de hidradenitis supurativa. Resumen ejecutivo.

Hidradenitis suppurativa is a chronic inflammatory disease of the hair follicle characterized by recurrent painful and inflamed lesions, predominantly affecting intertriginous regions. Due to its physical sequelae and impact on quality of life, we should be familiarized with this disease to make an appropriate diagnosis and implement an early treatment. This executive summary of the clinical guideline, elaborated by the hidradenitis suppurativa workgroup of the Chilean Society of Dermatology and Venereology (SOCHIDERM), reviews its definition, epidemiology, pathophysiology, risk factors, comorbidities, psycho-emotional impact, clinical presentation, diagnosis, classifications, ultrasonographic evaluation, and its medical and surgical treatments. Finally, a therapeutic approach algorithm is proposed.

[Ebola: characterization, history and cutaneous manifestations]. / Ébola: caracterización, historia y manifestaciones cutáneas; lo que debemos saber.

Ebola virus (EV) is one of the most virulent human pathogens. Fruits bats are its natural reservoir, the transmission to humans is across wild animals (especially primates) and the propagation in human populations is through bodily fluid contact. The actual outbreak started in December 2013 and crossed continental borders. Up to now, there are 17,145 suspected and confirmed cases with 6,070 deaths, resulting a total case fatality rate of 35%. Clinical manifestations can be divided in 3 phases. In phase I, symptoms are similar to flu, which may appear in a range of 2 to 21 days. In phase II which occurs in over 50% of cases, visceral symptoms and mucocutaneous manifestations appear within 4 and 5 days of the onset of symptoms. The main symptoms are a macular or maculopapular non-pruritic rash, desquamation and mucosal involvement of eyes, mouth and pharynx. In phase III, recovery or death occurs. The diagnosis is made on clinical grounds, epidemiological suspicion and a positive polymerase chain reaction (PCR) test. The treatment is supportive. If there is a suspected case, it should be notified immediately and all relevant safety measures should be instituted.

[Tungiasis, an emerging tropical disease in Chile: three imported cases reports]. / Tungiasis, una enfermedad tropical emergente en Chile: Comunicación de tres casos clínicos importados.

Tungiasis is a cutaneous ectoparasitosis caused by the sand flea Tunga penetrans whose higher prevalence occurs in South America, the Caribbean and Sub-Saharan Africa. It is clinically characterized by a papular lesion, either single or multiple, with a whitish halo and a brown-black central core, most of them localized on the feet. The lesions can be painful and itchy with the most common complication being bacterial superinfection of the skin. We report three cases of Chilean patients who presented skin lesions suggestive of tungiasis on their return from areas of high prevalence of the disease. The diagnosis is made by the clinical features of lesions in a patient from an endemic zone. Standard treatment consists of surgical extraction of the flea followed by application of a topical antibiotic and a tetanus prophylaxis. Prevention of the infestation is essential and includes the use of closed footwear and repellents.

[Virilization caused by an ovarian tumor. Report of one case]. / Hiperandrogenismo avanzado en una mujer postmenopáusica. Caso clínico.

We report a 76-year-old woman with a virilization syndrome characterized by progressive androgenic alopecia, clitoris enlargement and hirsutism predominating in the face. Plasma testosterone was 711 ng/dl. Magnetic resonance imaging showed slightly enlarged ovaries with a cyst in the left. A bilateral oophorectomy was performed, demonstrating the presence of a Leydig cell hilar tumor in the right ovary. The patient had a good postoperative evolution with reduction of androgen levels and reversion of alopecia.

Guía clínica chilena para el estudio y tratamiento de hidradenitis supurativa. Resumen ejecutivo

Hidradenitis suppurativa is a chronic inflammatory disease of the hair follicle characterized by recurrent painful and inflamed lesions, predominantly affecting intertriginous regions. Due to its physical sequelae and impact on quality of life, we should be familiarized with this disease to make an appropriate diagnosis and implement an early treatment. This executive summary of the clinical guideline, elaborated by the hidradenitis suppurativa workgroup of the Chilean Society of Dermatology and Venereology (SOCHIDERM), reviews its definition, epidemiology, pathophysiology, risk factors, comorbidities, psycho-emotional impact, clinical presentation, diagnosis, classifications, ultrasonographic evaluation, and its medical and surgical treatments. Finally, a therapeutic approach algorithm is proposed.

Guía clínica chilena para el manejo de hidradenitis supurativa / Chilean clinical guidelines for the management of hidradenitis suppurativa

La hidradenitis supurativa es una enfermedad inflamatoria crónica del folículo piloso que se caracteriza por la aparición recurrente de lesiones inflamatorias dolorosas y profundas predominantemente en pliegues. Debido a sus secuelas físicas y en la calidad de vida, debemos estar familiarizados con esta enfermedad, a fin de poder realizar un diagnóstico oportuno e implementar un tratamiento precoz. Esta guía clínica, elaborada por el grupo de trabajo de hidradenitis supurativa de la Sociedad Chilena de Dermatología y Venereología (SOCHIDERM), revisa su definición, epidemiología, fisiopatogenia, factores de riesgo, comorbilidades, impacto psicoemocional, presentación clínica, diagnóstico, clasificaciones, evaluación ecográfica, y tratamientos médico y quirúrgico. Finalmente se propone un algoritmo de enfrentamiento terapéutico.

Hidradenitis suppurativa is a chronic inflammatory disease of the hair follicle characterized by recurrent painful and inflamed lesions, predominantly affecting intertriginous regions. Due to its physical sequelae and impact on life quality, we should be familiarized with this disease to make an appropriate diagnosis and implement an early treatment. This clinical guideline, elaborated by the hidradenitis suppurativa workgroup of the Chilean Society of Dermatology and Venereology (SOCHIDERM), review its definition, epidemiology, pathophysiology, risk factors, comorbidities, psycho-emotional impact, clinical presentation, diagnosis, classifications, ultrasonographic evaluation, and its medical and surgical treatments. Finally, a therapeutic approach algorithm is proposed.

Dowling-Degos disease: a therapeutic challenge: report of a family with no response to laser treatments

La enfermedad de Dowling-Degos (DDD), conocida también como 'anomalía reticulada y pigmentada de las flexuras' es una rara genodermatosis autosómica dominante. Se caracteriza por la aparición de máculas hiperpigmentadas de configuración reticulada; afectando principalmente los grandes pliegues como las axilas e ingles. Pudiendo, además, comprometer otros pliegues como cervicales, antecubitales, submamarios e interglúteos. Otras características asociadas son las lesiones tipo comedones y los pits palmo-plantares. Presentamos el caso de una familia con enfermedad de Dowling-Degos sin respuesta al tratamiento con laser Nd:YAG y CO2. Se realiza una revisión de la literatura de los tratamientos disponibles.

Dowling-Degos disease (DDD), also known as "reticulate pigmented anomaly of the flexures", is a rare autosomal dominant genodermatosis. DDD is characterized by an acquired reticular skin hyperpigmentation which begins in the axillae and groin. It later involves other body folds, including neck, inner aspects of the arms and thighs, inframammary, and intergluteal folds. Associated features include comedolike lesions on the neck or back, pitted facial or perioral scars, and epidermoid cysts. Herein we present a family (proband, mother, grandmother) with DDD that were treated with Q-switched Nd:YAG laser and CO2 laser without response. Treatment options are discussed and the available literature is reviewed.

Trasplante hepático por insuficiencia cardíaca secundaria a telangiectasia hemorrágica hereditaria o enfermedad de Rendu Osler Weber: caso clínico / Liver transplant as treatment for cardiac failure secondary to hereditary hemorrhagic telangiectasia: report of one case

Liver involvement by multiple arterio-venous shunts in hereditary hemorrhagic telangiectasia can lead to severe heart failure. Total hepatectomy with liver transplantation has emerged as a therapeutic option for severe cases where other therapies have failed. We report a 51-year-old male who underwent a liver transplant for this condition, with full cardiac recovery within the first year after receiving the allograft. Nine years after transplantation, he remains with normal functional capacity and normal liver function tests.

Hidradenitis supurativa: dramática respuesta a metformina en una paciente sin resistencia a la insulina / Hidradenitis suppurativa: dramatic response to metformin in a patient without insulin resistance

La Hidradenitis Supurativa (HS) es una enfermedad inflamatoria crónica de la piel, en la que se han utilizado múltiples tratamientos, con respuesta variable. Se presenta el caso de una paciente con HS sin resistencia a la insulina, que fue tratada satisfactoriamente utilizando metformina oral. Paciente mujer de 22 años, consultó por HS de cuatro años de evolución. Presentaba sobrepeso, pero no resistencia a la insulina ni síndrome de ovario poliquístico. Durante los primeros seis meses de tratamiento recibió antibióticos orales, antibióticos tópicos, cloruro de aluminio tópico y corticosteroides intralesionales, con escasa respuesta. Después de estos tratamientos, se le indicó metformina y luego de doce días de tratamiento todas las lesiones inflamatorias remitieron. Un año después, no ha presentado nuevas lesiones. La metformina podría ser una excelente opción de tratamiento para los pacientes con HS no necesariamente asociada con resistencia a la insulina.

Hidradenitis suppurativa (HS) is a chronic and often devastating inflammatory skin disorder. Many treatments have been used, however none of them is consistently effective. We report the case of a patient with HS without insulin resistance who was successfully treated using oral metformin. A 22 years old woman consulted at our dermatology department with a four years history of HS. There was no insulin resistance or polycystic ovary syndrome. However, the patient was overweight. During the first six months of treatment the patient received oral antibiotics, topical antibiotics, oral zinc, topical aluminum chloride and intralesional corticosteroids with a poor response. After all these treatments, the patient was started metformin on a daily basis. After twelve days of treatment all inflammatory lesions resolved. One year later, no new lesions have appeared. Metformin might be an excellent treatment option for patients with HS not necessarily associated with altered glucose metabolism.

Ébola: caracterización, historia y manifestaciones cutáneas; lo que debemos saber / Ebola: characterization, history and cutaneous manifestations

Ebola virus (EV) is one of the most virulent human pathogens. Fruits bats are its natural reservoir, the transmission to humans is across wild animals (especially primates) and the propagation in human populations is through bodily fluid contact. The actual outbreak started in December 2013 and crossed continental borders. Up to now, there are 17,145 suspected and confirmed cases with 6,070 deaths, resulting a total case fatality rate of 35%. Clinical manifestations can be divided in 3 phases. In phase I, symptoms are similar to flu, which may appear in a range of 2 to 21 days. In phase II which occurs in over 50% of cases, visceral symptoms and mucocutaneous manifestations appear within 4 and 5 days of the onset of symptoms. The main symptoms are a macular or maculopapular non-pruritic rash, desquamation and mucosal involvement of eyes, mouth and pharynx. In phase III, recovery or death occurs. The diagnosis is made on clinical grounds, epidemiological suspicion and a positive polymerase chain reaction (PCR) test. The treatment is supportive. If there is a suspected case, it should be notified immediately and all relevant safety measures should be instituted.

Tungiasis, una enfermedad tropical emergente en Chile: Comunicación de tres casos clínicos importados / Tungiasis, an emerging tropical disease in Chile: Three imported cases reports

Tungiasis is a cutaneous ectoparasitosis caused by the sand flea Tunga penetrans whose higher prevalence occurs in South America, the Caribbean and Sub-Saharan Africa. It is clinically characterized by a papular lesion, either single or multiple, with a whitish halo and a brown-black central core, most of them localized on the feet. The lesions can be painful and itchy with the most common complication being bacterial superinfection of the skin. We report three cases of Chilean patients who presented skin lesions suggestive of tungiasis on their return from areas of high prevalence of the disease. The diagnosis is made by the clinical features of lesions in a patient from an endemic zone. Standard treatment consists of surgical extraction of the flea followed by application of a topical antibiotic and a tetanus prophylaxis. Prevention of the infestation is essential and includes the use of closed footwear and repellents.

La tungiasis es una ectoparasitosis cutánea causada por la pulga Tunga penetrans, prevalente en Sudamérica, el Caribe y África Subsahariana. Clínicamente se caracteriza por la formación de pápulas, únicas o múltiples, con un halo blanquecino translúcido y una región central pardo-negruzca, frecuentemente localizadas en los pies. Las lesiones pueden cursar con prurito o dolor leve, siendo la sobreinfección bacteriana la complicación más frecuente. Se comunican tres casos clínicos de chilenos que viajaron a zonas de alta prevalencia de tungiasis y que a su regreso presentaron lesiones dérmicas sugerentes de la enfermedad. El diagnóstico se realizó en base a las características clínicas de las lesiones en un paciente proveniente de zonas endémicas. El tratamiento de elección es la extracción quirúrgica de la pulga seguido del uso de antimicrobianos tópicos y la vacunación antitetánica. La prevención es esencial con el uso de calzado cerrado y repelentes.

[Suspicion of systemic diseases through nails abnormalities]. / Sospecha de patologías sistémicas a través de alteraciones ungueales.

Nails are protective, thin, horny growth at the end of fingers and toes. Abnormalities of the fingernails and toenails can provide both subtle and obvious clues to common medical problems or severe systemic diseases. Inheritance, minor injuries, common habits, the use of cosmetics and a variety of infections account for many changes in the appearance of nails. Awareness of normal nail variants, abnormalities and their disease associations will be beneficial to detect systemic diseases.

Hiperandrogenismo avanzado en una mujer postmenopáusica: Caso clínico / Virilization caused by an ovarian tumor: Report of one case

We report a 76-year-old woman with a virilization syndrome characterized by progressive androgenic alopecia, clitoris enlargement and hirsutism predominating in the face. Plasma testosterone was 711 ng/dl. Magnetic resonance imaging showed slightly enlarged ovaries with a cyst in the left. A bilateral oophorectomy was performed, demonstrating the presence of a Leydig cell hilar tumor in the right ovary. The patient had a good postoperative evolution with reduction of androgen levels and reversion of alopecia.

[Jellyfish sting. An update]. / Picaduras de medusas: actualización.

Jellyfish are aquatic organisms, whose number increases under certain conditions of water temperature. They can sting humans, which can be fatal. The liberation of structures known as nematocysts induces the extrusion of the poison, to attack their victims. The poison produces characteristic local and systemic reactions. Since an increased number of these organisms has been detected in our coastline, we review the epidemiology, symptoms and diagnosis of the syndrome produced by the bite, to improve its management.

[Correlation between phenotype and genotype in a group of patients with cystic fibrosis]. / Correlación genotipo-fenotipo de un grupo de pacientes con fibrosis quística.

BACKGROUND: Cystic fibrosis (CF) is the most common lethal autosomic disease in Caucasians, with a global incidence of 1:3000 newborns. More than 900 mutations have been described, involving the Cystic Fibrosis Transmembrane Regulator (CFTR). The delta F508 mutation is present in 60% of alleles studied worldwide. AIM: To report 25 patients with cystic fibrosis in whom a genetic study was done. MATERIAL AND METHODS: Twenty five patients (14 men, aged between 18 months and 25 years) with a diagnosis of cystic fibrosis based on clinical features plus two abnormal sweat tests are reported. The genetic study considered the 20 most common mutations in cystic fibrosis and was done in genomic DNA of peripheral lymphocytes, by polymerase chain reaction. RESULTS: A mutation was found in 75% of analyzed alleles. delta F508 was present in 50% of cases (delta F508/delta F508 in 8 and delta F508/other in 11). When delta F508 was present, pancreatic insufficiency was always a feature and nutritional status was worse. Respiratory involvement was variable, both for homozygous and heterozygous cases. Other severe mutations such as W128X and G542X were related to clinical manifestations similar to those found in delta F508 mutation. Diagnosis was made before six months of age in 12 patients. The clinical presentation was meconium ileus and there was a family history of the disease in most cases. The majority of cases of early diagnosis presented severe mutations, but milder respiratory symptoms and lesser nutritional compromise at the time of assessment. CONCLUSIONS: Most patients studied had a severe cystic fibrosis mutation, which was associated with more severe respiratory, pancreatic and nutritional involvement. The early diagnosis of the disease, which would allow to improve the prognosis and the quality of life, must be emphasized.

Carcinoma basocelular vulvar: revisión de la literatura a propósito de un caso / Vulvar basal cell carcinoma: review of the literature

El carcinoma basocelular (CBC) corresponde al 70 por ciento-80 por ciento de los cánceres cutáneos. Los factores de riesgo son: exposición solar, fototipos I-II y edad avanzada, entre otros. El 85 por ciento se ubican en áreas fotoexpuestas y menos del 1 por ciento se encuentran en la región vulvar. Algunos factores predisponentes son irritación, infección crónica, e inmunosupresión. Clinicamente se manifiestan como placas, a veces pigmantadas y el síntoma más frecuente es el prúrito. Dada su ubicación, suelen pasar indvertidas en el examen físico. E patrón histopatológico más frecuente es el nodular. Es localmente invasivo y tiene una baja tasa de metástasis (0,1 por ciento). El tratamiento es la resección quirúrgica con márgenes (1-3 cm), así como también la cirugía de Mohs. La recidiva registrada es alta (9 por ciento - 20 por ciento) y se relaciona a márgenes positivos postquirúrgicos, por lo que es importante el seguimiento estrecho y prolongado.

Basal cell carcinoma (BCC) is responsible for 70 percent-80 percent of all cutaneous cancers. Some risk factors are sun exposure, fair skin and advanced age. 85 percent of BCC are located in sun exposed areas and less than 1 per cent can be found in the vulvar region. Some risk factors are chronic irritation, infection and inmunosuppression. Clinically they present as plaques with or without pigmentation and the most frequent symptom is pruritus. Due to the location, they tend to be unnoticed at physical examination. The most frequent histopathologic pattern is the nodular type. It behaves as a locally invasive cancer and metastasis are extremely rare (0,1 percent). The treatment should include surgical resection with margins (1-3 cm). In larger lesions, Mohs technique has been successfully used. The recurrence is high (9 percent-20 percent) due to positive margins, therefore it is important to keep a close and prolonged follow-up.