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Dyskeratosis congenita (DC) is a telomeropathy presenting diagnostic and therapeutic challenges across multiple specialties; yet, subtle dermatological signs enable early detection, altering patient prognosis. A specific DC genetic sequencing was performed according to the clinical criteria of our patient in study. Subsequently, cross-checked information in the main genetic databases was carried out. Additionally, an extensive review of the literature was made to organize the main dermatological aspects in DC. We report a novel variant of DC. Additionally, we share 10 useful and practical messages for dermatologists and any specialist caring for this group of patients.

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Metastatic Crohn's disease (MCD) is a rare cutaneous manifestation of Crohn's disease (CD). The simultaneous involvement of the vulva and oral region is uncommon in clinical presentations of MCD. We present the case of a middle-aged woman with a family history of autoimmunity who initially presented with oral and vulvoperineal involvement. Initially, Behçet's disease was ruled out, but histopathological studies of the vulva revealed findings compatible with MCD. The patient had no gastrointestinal symptoms, and fecal calprotectin levels were normal. Upper and lower endoscopic examinations and capsule endoscopy of the small intestine (SI) did not reveal any significant findings. Treatment with anti-tumor necrosis factor (anti-TNF) agents was initiated but resulted in paradoxical psoriasis with adalimumab and infliximab. Cyclosporine was also used, but the patient experienced intolerable tachycardia. After 18 months, the patient developed episcleritis and experienced diarrhea accompanied by cramp-like abdominal pain. Repeat upper and lower endoscopic examinations showed normal results, while capsule endoscopy of the SI revealed CD enteritis. The patient was diagnosed with CD of the small intestine, along with extraintestinal manifestations of vulvoperineal MCD, oral involvement, and episcleritis. Management with azathioprine and ustekinumab was initiated, resulting in significant clinical improvement. MCD poses a diagnostic challenge due to its unusual manifestations. It may present without gastrointestinal tract involvement, mimicking other conditions. Therefore, timely diagnosis and the selection of the most appropriate therapeutic strategy are crucial.

La enfermedad de Crohn metastásica (ECM) es una entidad rara, es una manifestación cutánea en enfermedad Crohn (EC), y en su presentación clínica es inusual el compromiso vulvar y oral de modo concomitante. Se describe el caso de una mujer de edad media que tiene historia familiar de autoinmunidad, presenta inicialmente compromiso oral y vulvoperineal. En su abordaje inicial se descartó enfermedad de Behçet, pero los estudios histopatológicos a nivel vulvar tuvieron hallazgos compatibles para ECM. Hubo ausencia de síntomas gastrointestinales y sus niveles de calprotectina fecal eran normales. Los estudios endoscópicos altos y bajos, y la cápsula endoscópica del intestino delgado (ID) no tuvieron hallazgos relevantes. Se inició el tratamiento con antifactor de necrosis tumoral (anti-TNF) y presentó una psoriasis paradójica con adalimumab e infliximab. También se utilizó ciclosporina y presentó una taquicardia intolerable. 18 meses después de estos síntomas tuvo epiescleritis e inició con diarrea asociada a dolor abdominal tipo cólico, por lo que se repitieron los estudios endoscópicos altos y bajos, que resultaron normales, y cápsula endoscópica de ID mostró una enteritis por EC. Se consideró EC de ID con manifestaciones extraintestinales y con ECM vulvoperineal, compromiso oral y epiescleritis. Se requirió manejo con azatioprina y ustekinumab, con una mejoría clínica significativa. La ECM es un reto diagnóstico, pues es una manifestación inusual; en su debut puede haber ausencia de compromiso en el tracto gastrointestinal y también simular otras entidades. Debe buscarse lograr el diagnóstico oportuno y la estrategia terapéutica más segura.

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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.

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INTRODUCTION: In December 2019, a new coronavirus was identified as the causal agent of the 2019 coronavirus disease (COVID-19) with a wide clinical spectrum that goes from asymptomatic cases to critical and fatal cases. Its usual manifestations are fever, cough, and fatigue; although some cases present skin lesions. CASES REPORT: The first case was a 30-year-old woman with a history of controlled solar urticaria who presented erythematous and pruritic wheals in malar and cervical regions and extremities; associated with general malaise, headaches, and nausea, in whom the presence of COVID-19 was confirmed; her condition improved with a quadruple dose of antihistamines. The second case was a 47-year-old woman with a history of wasp sting anaphylaxis, without mastocytosis, who presented nasal congestion, headaches, and hypogeusia associated with generalized, erythematous, and pruritic wheals, with confirmation of COVID-19; her condition improved with quadruple doses of antihistamines. CONCLUSIONS: Cutaneous manifestations associated with COVID-19 are frequent and can be classified as inflammatory and vascular. Among them, urticarial lesions occupy the fourth place, and although there could be some predominance of these in patients with a history of allergies, more studies are required to define an association.

Introducción: En diciembre de 2019 fue identificado un nuevo coronavirus como agente causal de la enfermedad por coronavirus del 2019 con un amplio espectro clínico, desde casos asintomáticos hasta críticos y fatales. Generalmente se manifiesta con fiebre, tos y fatiga, aunque algunos casos se presentan con lesiones cutáneas. Reporte de casos: El primer caso es una mujer de 30 años con antecedente de urticaria solar controlada quien presentó habones eritematosos y pruriginosos en región malar, cervical y extremidades, asociado a malestar general, cefalea y náuseas, en quien se confirmó la presencia de COVID-19, y mejoró con antihistamínicos a dosis cuádruple. El segundo caso es una mujer de 47 años con antecedente de anafilaxia por picadura de avispa, sin mastocitosis, quien presentó congestión nasal, cefalea e hipogeusia asociado a habones generalizados, eritematosos y pruriginosos, con confirmación de COVID-19, y mejoría con dosis cuadruple de antihistamínicos. Conclusiones: Las manifestaciones cutáneas asociadas a COVID-19 son frecuentes y se pueden clasificar en inflamatorias y vasculares. Dentro de ellas, las lesiones urticariales ocupan el cuarto lugar, y aunque podría existir algún predominio de estas en pacientes con antecedentes de alergias, se necesitan más estudios para definir una asociación.

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RESUMEN La sarcoidosis es una enfermedad granulomatosa, multisistémica, de causa desconocida y con múltiples manifestaciones clínicas. La característica histopatológica esencial son los granulomas uniformes no caseificantes con escasos linfocitos periféricos (granulomas desnudos). Se presenta el caso de un paciente masculino de 62 años que acudió a Cuerpo de Guardia por presentar tos seca, falta de aire, inflamación de ganglios axilares y lesiones en piel, en forma de placas, máculas y otras de aspecto psoriasiforme. Las manifestaciones clínicas, los resultados de los exámenes complementarios y al hacer el diagnóstico diferencial con otras afecciones que cursan con hallazgos similares, se llegó al diagnóstico de sarcoidosis sistémica. El paciente evolucionó favorablemente con el tratamiento indicado. El compromiso cutáneo de la sarcoidosis representa un desafío dada la variada presentación de esta entidad y los diagnósticos diferenciales a considerar.

ABSTRACT Sarcoidosis is a multisystemic granulomatous disease of unknown etiology with multiple clinical manifestations. The essential histopathologic feature is uniform non-caseating granulomas with few peripheral lymphocytes (naked granulomas). We present the case of a 62-year-old male patient who came to the emergency room due to a dry cough, shortness of breath, swollen axillary glands and skin lesions, in the form of plaques, macules, and others with a psoriasiform appearance. The clinical manifestations, the results of the complementary tests and when making the differential diagnosis with other conditions that present similar findings, the diagnosis of systemic sarcoidosis was reached. The patient evolved favorably with the indicated treatment. The cutaneous involvement of sarcoidosis represents a challenge given the varied presentation of this entity and the differential diagnoses to be considered.

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BACKGROUND: The current literature describes the characteristics of some skin manifestations in the context of primary immunodeficiency diseases (PIDs), also known as inborn errors of the immune system. However, there are hardly any data on the epidemiological trends of skin manifestations and PIDs in Latin America (LA). We aimed to describe the characteristics of patients with skin manifestations and the diagnosis of a PID treated at a tertiary hospital in Colombia. METHODS: This was a retrospective observational study. Data were taken from the institutional database of pediatric PIDs, which includes 306 patients under 18 years of age who attended a tertiary care center in Cali, Colombia for inpatient or outpatient services between December 2013 and December 2018. A trained third-year dermatology resident reviewed the electronic clinical records of all the patients in the database and double-checked patients who presented with cutaneous signs and symptoms. RESULTS: A total of 83 patients out of the original 306 patients (27.1%) presented with some type of cutaneous manifestation. Of these patients, 56.6% had atopic dermatitis, 56.6% reported at least one episode of skin infection, and some of the patients had both of these manifestations. Infections were more frequent in the PID group of combined immunodeficiency associated with well-defined syndromes and atopic dermatitis in the group of antibody deficiencies. CONCLUSIONS: It is important to recognize dermatological clinical characteristics in patients with PIDs. More studies are necessary to establish recommendations regarding the approach of diagnosis and management of these patients.

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The human infection caused by the novel SARS-CoV-2 is a public health emergency of international concern. Although the disease associated to this virus, named COVID-19, mainly affects the lungs, the infection can spread to extrapulmonary tissues, causing multiorgan involvement in severely ill patients. The broad infective capacity of SARS-CoV-2 is related to the pattern of expression of the viral entry factors ACE2 and TMPRSS2 in human tissues. As such, the respiratory and gastrointestinal tracts are at high risk for SARS-CoV-2 infection due to their high expression of ACE2 and TMPRSS2, which explains the clinical phenotype described in the vast majority of infected patients that includes pneumonia and diarrhea. Recently, preoccupation about the potential of the virus to infect the skin has been raised by dermatologists due to the increasing observations of cutaneous manifestations in patients with SARS-CoV-2 infection. Although there is little evidence of the expression of ACE2 and TMPRSS2 in the normal skin, the dermatological findings observed among COVID-19 patients warrants further investigation to delineate the mechanisms of skin affection after SARS-CoV-2 infection. Here, we provide a summary of the dermatological findings observed among patients with laboratory-confirmed SARS-CoV-2 infection based on recent reports. In addition, we analyze possible mechanisms of skin injury in COVID-19 patients and discuss about the risk of individuals with chronic skin conditions for SARS-CoV-2 infection. The present review constitutes a useful informative tool to improve our understanding of the pathophysiological mechanisms of COVID-19 and the possible implications of the current pandemic in dermatology.

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Resumen Desde la declaración de pandemia del coronavirus el mundo entero ha encaminado sus esfuerzos a ayudar a mitigar sus efectos, especialmente el personal de la salud. En ese intento por ayudar, buscan evitar su propio contagio por medio del uso de materiales de protección como mascarillas, gafas y guantes. Aunque protectores, éstos materiales y sus componentes pueden ser altamente perjudiciales para la piel, causando dermatitis de contacto, ulceraciones y erosiones. En esta revisión se abordan dichas manifestaciones y se proponen medidas para prevenirlas o tratarlas.

Abstract Since the declaration of coronavirus as a pandemic the entire world has directed its efforts to help mitigate the effects of it to the best of its ability, especially health personnel. In that attempt to help, we seek to avoid their own contact through the use of protective materials such as masks, goggles, and gloves. Although protective, this equipmment and its components can be highly damaging to the skin, causing contact dermatitis. This review addresses manifestations and reviews measures to prevent and cure them.

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INTRODUCTION: Reports of dermatological manifestations in patients with COVID-19 suggest a possible cutaneous tropism of SARS-CoV-2; however, the capacity of this virus to infect the skin is unknown. OBJECTIVE: To determine the susceptibility of the skin to SARS-CoV-2 infection based on the expression of viral entry factors ACE2 and TMPRSS2 in this organ. METHOD: A comprehensive analysis of human tissue gene expression databases was carried out looking for the presence of the ACE2 and TMPRSS2 genes in the skin. mRNA expression of these genes in skin-derived human cell lines was also assessed. RESULTS: The analyses showed high co-expression of ACE2 and TMPRSS2 in the gastrointestinal tract and kidney, but not in the skin. Only the human immortalized keratinocyte HaCaT cell line expressed detectable levels of ACE2, and no cell line originating in the skin expressed TMPRSS2. CONCLUSIONS: Our results suggest that cutaneous manifestations in patients with COVID-19 cannot be directly attributed to the virus. It is possible that cutaneous blood vessels endothelial damage, as well as the effect of circulating inflammatory mediators produced in response to the virus, are the cause of skin involvement.

INTRODUCCIÓN: Reportes de manifestaciones dermatológicas en pacientes con COVID-19 sugieren un posible tropismo cutáneo del virus SARS-CoV-2; sin embargo, se desconoce la capacidad de este virus para infectar la piel. OBJETIVO: Determinar la susceptibilidad de la piel a la infección por SARS-CoV-2 con base en la expresión de los factores de entrada viral ACE2 y TMPRSS2 en dicho órgano. MÉTODO: Se buscaron los genes ACE2 y TMPRSS2 en la piel, para lo cual se realizó un análisis extenso de las bases de datos de expresión genética en tejidos humanos. Asimismo, se evaluó la expresión de dichos genes en líneas celulares humanas derivadas de la piel. RESULTADOS: Los análisis mostraron alta expresión conjunta de ACE2 y TMPRSS2 en el tracto gastrointestinal y en los riñones, pero no en la piel. Solo la línea celular de queratinocitos humanos inmortalizados HaCaT expresó niveles detectables de ACE2 y ninguna línea celular de origen cutáneo expresó TMPRSS2. CONCLUSIONES: Los resultados sugieren que las manifestaciones dermatológicas en pacientes con COVID-19 no pueden ser atribuidas directamente al virus; es posible que sean originadas por el daño endotelial a los vasos sanguíneos cutáneos y el efecto de los mediadores inflamatorios circulantes producidos en respuesta al virus.

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Coronavirus disease (COVID-19) became pandemic since this is a disease with a high infection rate. The study's object is to identify clinical and histopathological findings of cutaneous manifestations of COVID-19 patients. The evidence was analyzed in PubMed, CINAHL, Cochrane, Web of Science, and Scopus, with the search strategy (covid 19 OR covid-19 OR corona OR coronavirus OR sars-cov-2) AND (cutaneous or cutaneous manifestations OR), and 17 studies were included, involving 351 cases with COVID19 and skin manifestations. The lesions were classified mainly as maculopapular, erythematous, vesicular, and urticarial. Histopathological analyses suggest a predominance of spongiosis, perivascular infiltrate of lymphocytes, and thrombogenic vasculopathy.

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