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Abstract Background Molecularly targeted therapies, such as monoclonal antibodies (mAbs) and Janus Kinase inhibitors (JAKis), have emerged as essential tools in the treatment of dermatological diseases. These therapies modulate the immune system through specific signaling pathways, providing effective alternatives to traditional systemic immunosuppressive agents. This review aims to provide an updated summary of targeted immune therapies for inflammatory skin diseases, considering their pathophysiology, efficacy, dosage, and safety profiles. Methods The review followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. A systematic search was conducted on PubMed over the past 10 years, focusing on randomized clinical trials, case reports, and case series related to targeted immune therapies in dermatology. Eligibility criteria were applied, and data were extracted from each study, including citation data, study design, and results. Results We identified 1360 non-duplicate articles with the initial search strategy. Title and abstract review excluded 1150, while a full-text review excluded an additional 50 articles. The review included 143 studies published between 2012 and 2022, highlighting 39 drugs currently under investigation or in use for managing inflammatory skin diseases. Study limitations The heterogeneity of summarized information limits this review. Some recommendations originated from data from clinical trials, while others relied on retrospective analyses and small case series. Recommendations will likely be updated as new results emerge. Conclusion Targeted therapies have revolutionized the treatment of chronic skin diseases, offering new options for patients unresponsive to standard treatments. Paradoxical reactions are rarely observed. Further studies are needed to fully understand the mechanisms and nature of these therapies. Overall, targeted immune therapies in dermatology represent a promising development, significantly improving the quality of life for patients with chronic inflammatory skin diseases.
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El síndrome de Wells es una afección dérmica que presenta un gran polimorfismo clínico. Es una patología autolimitada, recurrente y su origen es incierto. Reportamos el caso de una paciente de 29 años, procedente del área Central de Paraguay, comerciante, sin patología de base que consultó por edema de manos y piel. El tratamiento indicado fue corticoide vía oral y desparasitación con buena evolución y sin recidivas.
Wells syndrome is a dermal condition with a high clinical polymorphism. It is a self-limited, recurrent pathology and its origin is uncertain. We report the case of a 29-year-old female patient from the central area of Paraguay, a shopkeeper, with no underlying pathology, who consulted for hand and skin edema. The indicated treatment was oral corticosteroid and deworming with good evolution and no recurrences.
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Abstract Background: Pemphigus constitutes a group of autoimmune bullous diseases. A reduction in the incidence of endemic pemphigus foliaceus and an increase in pemphigus vulgaris has been described, but there are no studies in Minas Gerais that address the subject. Objective: To describe the epidemiological and clinical profile of patients with pemphigus treated at the Dermatology Service of a public University Hospital in the state of Minas Gerais, Brazil. Methods: An observational, descriptive, and cross-sectional study was carried out of cases of endemic pemphigus foliaceus and pemphigus vulgaris, for a period of six months. A questionnaire was filled out with epidemiological and clinical data on the disease. Results: A total of 122 patients were included in the study, 64 with endemic pemphigus foliaceus and 58 with pemphigus vulgaris. When comparing patients with endemic pemphigus foliaceus and those with pemphigus vulgaris, a statistical difference was observed between the median age of initial disease manifestation (p = 0.001), patient occupation (p = 0.010), area of residence (p = 0.000), forests (p = 0.000) and rivers/streams close to the dwelling (p = 0.001) and the number of systemic medications required to control the disease (p = 0.002). When comparing patients with endemic pemphigus foliaceus to those evaluated in a study carried out at the same service in 2008, there was a statistical difference in the area of residence (p = 0.030). Study limitations: The assessed population comes from a tertiary care service that is not a reference for the entire state. Conclusions: Patients with endemic pemphigus foliaceus and pemphigus vulgaris maintain statistically significant differences regarding their main variables in the literature, such as age and area of residence. Historically, there has been a reduction in cases of endemic pemphigus foliaceus and an increase in cases of pemphigus vulgaris in this population.
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La piel y sus anexos tienen amplia relación con todos los órganos y sistemas. Los cambios presentes en estos pueden ser el primer hallazgo en un paciente con enfermedad hepática, encontrándose hasta en el 20 % de los casos, por lo que las manifestaciones extrahepáticas adquieren importancia, y aunque muchas de estas no son específicas, algunos marcadores dermatológicos pueden ayudar al diagnóstico de la enfermedad y se pueden correlacionar con su severidad. El desarrollo de las lesiones cutáneas en los pacientes con cirrosis hepática se genera principalmente por hipertensión portal y exceso de estrógenos circulantes, por lo tanto, su tratamiento se basa en el manejo de la patología hepática subyacente. En el presente artículo se hace una revisión de la literatura y se describe un amplio espectro de manifestaciones dermatológicas asociadas a cirrosis hepática, con sus características y etiopatogénesis, siendo las más frecuentes la ictericia, el prurito, los nevus en araña, el eritema palmar, las venas en cabeza de Medusa, y los cambios de uñas y del vello, entre otras.
The skin and its annexes have a broad relationship with all organs and systems. Changes present in these can be the initial finding in a patient with liver disease, occurring in up to 20% of cases, therefore the extrahepatic manifestations become important, and although many of these are not specific, some dermatological markers can help in the diagnosis of the disease and may correlate with its severity. The development of cutaneous lesions in patients with liver cirrhosis is mainly generated by portal hypertension and excess of circulating estrogens, therefore their treatment is based on managing the underlying liver pathology. This article reviews the literature and describes a wide range of dermatological manifestations associated with liver cirrhosis, with their characteristics and etiopathogenesis, being the most frequent jaundice, pruritus, spider nevus, palmar erythema, caput Medusae veins, nail and hair changes, among others.
Subject(s)
HumansABSTRACT
OBJETIVO: Avaliar a efetividade, segurança, níveis de dor e qualidade de vida associados ao uso de adalimumabe, clindamicina e/ou rifampicina no tratamento da hidradenite supurativa. MÉTODO: Serão incluídos estudos do tipo coorte prospectiva e retrospectiva, ensaios clínicos randomizados e de equivalência, bem como análises econômicas realizadas com adultos diagnosticados com hidradenite supurativa, que tenham utilizado pelo menos uma das seguintes alternativas terapêuticas: adalimumabe, clindamicina ou rifampicina. Os estudos devem abordar um ou mais desfechos, tais como contagem de abscessos e/ou nódulos, presença de nódulos inflamatórios, níveis de dor, qualidade de vida, segurança e custos. As bases de dados consultadas serão: Medical Literature Analysis and Retrieval System Online (MEDLINE, Interface OVID), Excerpta Medica DataBASE (EMBASE), Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), Cumulative Index to Nursing and Allied Health Literature (CINAHL, interface EBSCO), Psychological Abstracts (PsycINFO, interface EBSCO), Web of Science (WoS) e Source-Neutral Abstract and Citation Database (Scopus). Os processos de triagem, seleção e extração serão conduzidos por pesquisadores independentes e previamente treinados. O risco de viés será avaliado por meio dos instrumentos Risk of Bias 2.0 e ROBINS-I. Os resultados serão combinados em uma síntese qualitativa e quantitativa, com a realização de análises de especificidade e subgrupos.
OBJECTIVE: To evaluate the efficacy, safety, pain, and quality of life associated with the use of adalimumab, clindamycin, and/or rifampicin in the treatment of hidradenitis suppurativa. METHOD: Prospective and retrospective cohort studies randomized clinical trials and equivalence studies, and economic analyses, conducted in adults diagnosed with hidradenitis suppurativa who have used at least one of the following therapeutic alternatives: adalimumab, clindamycin, or rifampicin, will be included. Studies should address one or more outcomes such as abscess and/or nodule counts, presence of inflammatory nodules, pain levels, quality of life, safety, and cost. Databases consulted will include Medical Literature Analysis and Retrieval System Online (MEDLINE, OVID interface), Excerpta Medica DataBASE (EMBASE), Latin American and Caribbean Literature in Health Sciences (LILACS), Cumulative Index to Nursing and Allied Health Literature (CINAHL, EBSCO interface), Psychological Abstracts (PsycINFO, EBSCO interface), Web of Science (WoS), and Source-Neutral Abstract and Citation Database (Scopus). Screening, selection, and extraction processes will be conducted by independent and previously trained researchers. The risk of bias will be assessed using the Risk of Bias 2.0 and ROBINS-I tools. Results will be summarized in a qualitative and quantitative synthesis, including specificity and subgroup analyses.
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Immunologic skin diseases encompass a spectrum of immune system-mediated autoimmune or inflammatory skin conditions,such as lupus erythematosus,psoriasis,atopic dermatitis,and vitiligo.Immunologic skin diseases are characterized by an unclear pathogenesis,complex disease processes,diverse clinical manifestations,and treatment difficulties,thereby presenting sig-nificant diagnostic and therapeutic challenges.Notably,Chinese researchers have achieved numerous innovative research findings on immunologic skin diseases in recent years.Over the past decade,Chinese scholars have contributed 11 919 SCI papers to the field of immune dermatosis,with more than 10 being published in the world's leading medical journals.These publications include one in Sci-ence,one in Nature,two in Cell,three in The New England Journal of Medicine,two in The Lancet,and one in Nature Medicine,as well as four in Immunity.Here,we aim to present a comprehensive summary of Chinese research progress pertaining to the pathogene-sis,diagnosis and treatment of immunologic skin diseases.
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"Balance between yin and yang,the spirit is treated"means the best health state of the human body.The theory of yin and yang is the foundation of TCM theory,and the key to the treatment of chronic skin diseases is to regulate yin and yang.The key to the balance of yin and yang lies in the sufficiency of yang-qi.Sufficient yang-qi can guarantee the defense outside is solid and dense.The healthy-qi inside can avoid the invasion of pathogenesis.The invisible pathogenesis is difficult to transform into tangible pathogenesis.In the clinical syndromes,it has been found that the lack of yang-qi is one of the important reasons for the occurrence and development of skin diseases.By warming yang and dispersing pathogenic factors,dissolving muscles and dispelling wind,reconciling nutrient and defense,warming and dissipating cold,clearing heat and detoxifying,nourishing blood and moistening dryness,etc.,the deficiency yang can be warmed,the yang can be concealed,the balance between yin and yang can be achieved,and the diseases can be eliminated.
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Objective:To investigate the current status of multidrug-resistant bacteria (MDRO) wound infections in patients with autoimmune bullous diseases (AIBDs), and to analyze their risk factors.Methods:A retrospective study was conducted, and inpatients with AIBDs accompanied by wound infections were collected from Hospital of Dermatology, Chinese Academy of Medical Sciences from January 2020 to December 2022. A descriptive analysis was carried out to analyze the basic characteristics of these patients and pathogenic characteristics of MDRO. Univariate and binary logistic regression models were used to analyze independent risk factors for MDRO infections in patients with AIBDs. Differences between the MDRO infection group and common bacterial infection group were analyzed by using t test, Mann-Whitney U test and chi-square test. Results:Totally, 271 patients with AIBDs accompanied by wound infections were included, including 159 males (58.7%) and 112 females (41.3%), and 142 patients (52.4%) were aged over 60 years. Most patients with AIBDs were diagnosed with pemphigus vulgaris (131 cases, 48.3%), or bullous pemphigoid (99 cases, 36.5%). Bacterial culture was positive in all the patients, and 74 (27.3%) were infected with MDRO; a total of 108 strains of MDRO were detected, with relatively high detection rates of Staphylococcus (82 strains, 75.9%) and Enterobacter (15 strains, 13.9%). Significant differences were observed between the MDRO infection group and the common bacterial infection group in the duration of hospitalization, involved body surface area, proportions of patients self-modificating drug dosage, proportions of patients topically using antibiotic ointments, proportions of patients using immunosuppressants, duration of glucocorticoid use, maximum dose of glucocorticoids and the first albumin level at admission (all P < 0.05), while there were no significant differences in the gender, age, proportions of patients at first hospitalization, types of AIBDs, duration of education, body mass index, disease duration, proportions of smoking patients, proportions of drinking patients, proportions of patients with comorbid chronic diseases, surgical history, prevalence of hypoalbuminemia, prevalence of mucosal involvement, proportions of patients receiving topical glucocorticoids, proportions of patients using biological agents, duration of antibiotic use, and the first total protein level at admission between the two groups (all P > 0.05). Logistic regression analysis showed that the use of topical antibiotic ointments, use of immunosuppressants, maximum dose of glucocorticoids, and self-modification of drug dosage were independent risk factors for MDRO infections (all P < 0.05) . Conclusions:The patients with AIBDs were prone to develop MDRO infections in wounds, and Staphylococcus infections were the most common. The use of topical antibiotic ointments, use of immunosuppressants, high dose of glucocorticoids, and self-modification of drug dosage may increase the risk of infections in patients with AIBDs.
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Fangfeng Tongsheng Powder has the effect of dispersing wind heat and internal purging heat. Returning to the origin of Liu Wansu's academic thought, it can be concluded that Fangfeng Tongsheng Powder should be based on the treatment of wind as the symptoms, the treatment of heat as the root, the treatment of both the symptoms and the root, and the double solution of the exterior and the interior. It should be set up for the syndrome of excessive heat and internal and external excess. In recent years, the basic and clinical research directions of this prescription in China mainly include skin diseases, endocrine and metabolic diseases, digestive system diseases, respiratory diseases, etc., while foreign related research focuses on obesity-related metabolic diseases. Studies have found that Fangfeng Tongsheng Powder has the effects of anti-allergy, regulating immunity and improving metabolic disorders. At present, the basic research on Fangfeng Tongsheng Powder in China is relatively insufficient, and the mechanism of Fangfeng Tongsheng Powder needs to be further explored, and more large samples and high-quality RCTs need to be carried out.
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Abstract Background Systematic reviews of Randomized Controlled Trials (RCTs) are considered high-level evidence to support a decision on therapeutic interventions, and their methodological quality is essential to provide reliable and applicable results. Objective This meta-epidemiological study aimed to map and critically appraise systematic reviews assessing treatments for vesiculobullous skin diseases. Methods We conducted a comprehensive search strategy on MEDLINE (via Pubmed) in December 2022 without restrictions to find systematic reviews evaluating pharmacological interventions for vesiculobullous skin diseases. The methodological quality was assessed using the AMSTAR-2 tool, and additional information was extracted. We identified nine systematic reviews published between 2002 and 2021, seven assessing pemphigus. Results According to the AMSTAR-2 tool, 55.6% were classified as critically low quality, 22.2% as moderate quality, 11.1% as low and 11.1% as high quality. No review assessed the certainty of the evidence (GRADE); 86% of pemphigus reviews had at least two overlapping RCTs. There were some limitations regarding methodological flaws and the AMSTAR-2 tool use Conclusions These findings reveal a frail methodological quality of systematic reviews about vesiculobullous diseases treatment that may impact the results. Therefore, methodological rigor is mandatory for future systematic reviews to avoid duplication of effort and increase the certainty of the evidence supporting decision-making.
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Abstract The concept of "Cumulative Life Course Impairment" (CLCI) characterizes the set of factors harmful to the lives of patients resulting from the stigma and physical and psychological impairment associated with different chronic diseases, which can accumulate irreversibly over the course of patients lives. The sum of these factors often makes it impossible for these individuals to enjoy their lives fully, intensely and adequately. On the other hand, CLCI also incorporates coping strategies, including external factors and personality characteristics, which may act as modulating or protective factors of vulnerability to the CLCI. Although psoriasis is the most studied dermatological disease in relation to its impact on quality of life and CLCI, several other chronic inflammatory diseases such as atopic dermatitis, hidradenitis suppurativa, and alopecia areata have also been evaluated in relation to the magnitude of the damage to patients lives.
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ABSTRACT Objective: The objective of this study was to describe a case of cutaneous lichen planus (LP) that appeared following COVID-19 infection. Case description: We report a case of extensive cutaneous classic familial LP in a 4-year-old male child after an asymptomatic serologically confirmed COVID-19 infection. The patient developed intensely itchy, purple, flat-topped papules and plaques, mainly on the dorsal surface of the hands, feet, forearms, and shins. Histopathological examination of the skin biopsy showed vacuolar and apoptotic degeneration of the basal cell layer with a band-like lymphocyte infiltrate at the dermo-epidermal junction and confirmed the diagnosis of LP. Comments: LP could be considered among the differential diagnoses of pediatric post-COVID inflammatory skin lesions, either in the patients recovering from COVID-19 infection or in the suspicious asymptomatic cases in close contact with COVID-19-infected patients.
RESUMO Objetivo: Descrever um caso de líquen plano cutâneo (LP) após infecção por COVID-19. Descrição do caso: Relatamos um caso de LP familiar clássico extenso cutâneo em uma criança de quatro anos de idade após uma infecção por COVID-19 assintomática e sorologicamente confirmada. O paciente desenvolveu pápulas e placas intensamente pruriginosas, roxas e achatadas, principalmente na superfície dorsal das mãos, pés, antebraços e canelas. O exame histopatológico da biópsia de pele mostrou degeneração vacuolar e apoptótica da camada basal com infiltrado de linfócitos em faixa na junção dermoepidérmica e confirmou o diagnóstico de líquen plano. Comentários: O líquen plano pode ser considerado entre os diagnósticos diferenciais de lesões cutâneas inflamatórias pós-COVID pediátricas, tanto em pacientes em recuperação de infecção por COVID-19 quanto em casos assintomáticos suspeitos em contato próximo com pacientes infectados por COVID-19.
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ABSTRACT BACKGROUND: The prevalence of chronic kidney disease (CKD) has increased in the recent decades, along with the number of patients in the terminal stages of this disease, requiring transplantation. Some skin disorders are more frequent in patients with CKD and in renal transplant recipients (RTR). OBJECTIVES: To evaluate the frequency of skin diseases in RTR and patients with CKD receiving conservative treatment. DESIGN AND SETTING: This observational cross-sectional study recruited consecutive patients with CKD and RTR from a nephrology clinic at a teaching hospital in Brazil between 2015 and 2020. METHODS: Quantitative, descriptive, and analytical approaches were used. The sample was selected based on convenience sampling. Data were collected from dermatological visits and participants' medical records. RESULTS: Overall, 308 participants were included: 206 RTR (66.9%, median age: 48 years, interquartile range [IQR] 38.0-56.0, 63.6% men) and 102 patients with CKD (33.1%, median age: 61.0 years, IQR 50.0-71.2, 48% men). The frequency of infectious skin diseases (39.3% vs. 21.6% P = 0.002) were higher in RTR than in patients with CKD. Neoplastic skin lesions were present in nine (4.4%) RTR and in only one (1.0%) patient with CKD. Among the RTR, the ratio of basal cell carcinoma to squamous cell carcinoma was 2:1. CONCLUSIONS: This study revealed that an increased frequency of infectious skin diseases may be expected in patients who have undergone kidney transplantation. Among skin cancers, BCC is more frequently observed in RTR, especially in those using azathioprine.
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Las manifestaciones típicas de la Chikungunya son la fiebre y las artralgias en la mayoría de los casos, pero debemos recordar que presentan manifestaciones mucocutáneas, donde la más frecuente es el exantema, además pueden presentar manifestaciones mucocutáneas atípicas con un gran polimorfismo simulando varias dermatosis como los casos expuestos anteriormente. Este reporte cuenta con 5 casos clínicos del mes de enero y febrero del año 2023 en el departamento Central de Paraguay, durante la mayor epidemia de Chikungunya registrada en el país hasta el momento. Es importante conocerlas y correlacionar con los demás signos y síntomas de la enfermedad para un diagnóstico y tratamiento adecuados.
The typical manifestations of Chikungunya are fever and arthralgia in most cases, but we must remember that they present mucocutaneous manifestations, where the most frequent is rash, they can also present atypical mucocutaneous manifestations with great polymorphism simulating various dermatoses such as cases outlined above. This report has 5 clinical cases from the month of January and February 2023 in the Central area of Paraguay, during the largest recorded Chikungunya epidemic in the country so far. It is important to know them and correlate them with the other signs and symptoms of the disease for proper diagnosis and treatment.
Subject(s)
Skin DiseasesABSTRACT
El síndrome de Sweet es un tipo de dermatosis neutrofílica infrecuente, caracterizado por un cuadro febril agudo con aparición de lesiones en piel tipo pápulas y placas eritematosas y dolorosas, con neutrofilia periférica acompañante, que mejora con el uso de corticoides. Se presenta el caso de una paciente de 22 años, con vitíligo como enfermedad de base, que acude por un cuadro de 1 semana de evolución de sensación febril no graduada y aparición insidiosa de lesiones en piel foto expuesta. Se realizó estudios laboratoriales e histopatológicos llegando al diagnóstico de síndrome de Sweet. Con los resultados de los estudios paraclínicos se inició tratamiento con corticoides sistémicos y tópicos con excelente respuesta.
Sweet syndrome is a rare type of neutrophilic dermatosis, characterized by an acute febrile picture with the appearance of painful erythematous papules and plaques on the skin, with accompanying peripheral neutrophilia, which improves with the use of corticosteroids. The case of a 22-year-old patient, with vitiligo as the underlying disease, is presented. She attended for a 1-week history of ungraded feverish sensation and insidious appearance of lesions on photo-exposed skin. Laboratory and histopathological studies were carried out, leading to the diagnosis of Sweet syndrome. With the results of the paraclinical studies, treatment with systemic and topical corticosteroids was started with an excellent response.
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Background: The prevalence of skin diseases has increased over the last few decades, and they contribute to a significant burden on health-care systems across the world. Aims/Objective: This report looks at the burden of skin and subcutaneous diseases in terms of years lived with disability and age-standardised years lived with disability in India using the Global Burden of Disease Study results from 2017. Methods: Data were obtained from the Global Burden of Disease online interactive tool. Updated estimates of the world’s health for 359 diseases and injuries and 84 risk factors from 1990 to 2017 are available in this interactive tool. Results: Years lived with disability due to skin and subcutaneous diseases accounted for 4.02% of the total years lived with disability in India in 2017. There was an increase of 53.7% in all age standardised years lived with disability for all the skin and subcutaneous diseases from 1990 to 2017. Among skin and subcutaneous diseases, dermatitis contributed maximum years lived with disability (1.40 million; 95% uncertainty interval, 0.82–2.21) in 2017, followed by urticaria (1.02 million; 95% uncertainty interval, 0.06–1.44) with percentage increases of 48.9% and 45.7% respectively. Conclusion: The burden due to infectious skin diseases (e.g., scabies, fungal skin disease and bacterial skin disease) and non-infectious diseases (e.g., dermatitis, urticaria and psoriasis) has increased over the past three decades, however the age-standardised years lived with disability for leprosy, scabies, fungal infections, sexually transmitted infections and non-melanoma skin cancer (basal cell carcinoma) has decreased. The high burden of skin and subcutaneous diseases demand that they be given due importance in the national programmes and health policy of India.
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Background: Skin diseases occur in all age groups in developed and developing countries. Various types of skin diseases are found worldwide and depend on factors like environment, surrounding ecology, dietary habits, socioeconomic status, mental health, and literacy. Health-related quality of life (HRQOL) improves after treatment or cure of the diseases. Objectives: To estimate the pattern of skin disease. To find out the quality of life and association of skin disease with sociodemographic factors among patients. Methods: This observational cross-sectional study was done in skin OPD at the tertiary care center, Banda district of Uttar Pradesh, India from May 2022 to July 2022. All patients who attended to skin OPD during study period were included in the study after taking informed verbal consent. Results: Skin diseases had further divided in subcategories which were infectious conditions, pigmentary disorders, inflammatory dermatoses, miscellaneous skin conditions, benign tumor and other lesions with their percentage 44.8, 10.5, 28.6, 7.1, 2.9 and 6.2%, respectively in this study Classes of DQLI where major portion of patients (49.52%) were in ‘Small effect on patient’s life’ category. The relation of age, religion, education and member of household with history of skin disease were found to be highly statistically significant. Conclusion: Infectious skin diseases were found more common in study area. Male populations were more commonly affected. Skin diseases were more common in age group of 18–60 years. Study participants showed no predominant effect on quality of life. But small effect class had major effect on participant’s quality of life.
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La sarcoidosis es una enfermedad granulomatosa sistémica de causa desconocida, con mayor prevalencia en el sexo femenino, entre los 20 a 40 años de edad; caracterizada por la formación de granulomas no caseificantes en distintos órganos. La afectación cutánea de forma exclusiva es rara, pues se describe solo en el 4-5 % de los pacientes, ya que las lesiones en piel pueden aparecer antes o después del compromiso sistémico, o bien coincidir con este. Se presenta el caso de una paciente de 35 años con lesiones en piel de cuatro años de evolución. Considerando el cuadro clínico y la histopatología, se concluyó con el diagnóstico de sarcoidosis cutánea, crónica y asintomática. Se trata de una enfermedad muy polimorfa en sus manifestaciones cutáneas, lo cual la convierte en una gran simuladora, y su diagnóstico constituye un reto para el dermatólogo.
Sarcoidosis is a systemic granulomatous disease of unknown cause, with a higher prevalence in females, between 20 and 40 years of age; characterized by the formation of non-caseating granulomas in different organs. Exclusive skin involvement is rare, as it is described in only 4-5% of patients, since skin lesions may appear before or after systemic involvement, or coincide with it. The case of a 35-years-old patient with skin lesions of four years of evolution is presented. Considering the clinical case and histopathology, the diagnosis of chronic and asymptomatic cutaneous sarcoidosis was concluded. It is a very polymorphic disease in its skin manifestations, which makes it a great simulator, and its diagnosis constitutes a challenge for the dermatologist.
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Introduction: The present report describes the case of a 12-year-old patient with 17-year follow-up who was previously diagnosed with Papillon-Lefèvre Syndrome (PLS), which is a rare autosomal recessive irregularity in the cathepsin C gene (CTSC) characterized by palmoplantar hyperkeratosis and premature loss of primary and permanent teeth. Case Report: A specific mutation in the c.203 T > G gene inducing loss of function leading to PLS was detected, as was a mutation in the HLA-DRB1*11 allele, which is associated with this syndrome. There is no consanguinity of the parents, and the siblings are entirely healthy. Early identification of the main characteristics of this syndrome is imperative. Accurate diagnosis by genetic analysis allows differential diagnoses and timely comprehensive dental treatment. Conclusions: Additionally, it allows consultation with a dermatologist to maintain or improve the quality of life of patients with this condition due to progressive worsening and severity of the main physical manifestations. Keywords: Papillon-Lefevre Disease; Keratoderma, Palmo-plantar; Cathepsin C; Periodontitis; Skin Diseases, Genetic; Case reports
Introducción: El presente reporte describe el caso de un paciente de 12 años de edad con 17 años de seguimiento a quien previamente se le diagnosticó Síndrome de Papillon-Lefèvre (PLS), el cual es una rara irregularidad autosómica recesiva en el gen de la catepsina C (CTSC) caracterizada por hiperqueratosis palmoplantar y pérdida prematura de dientes primarios y permanentes. Reporte de Caso: Se detectó una mutación específica en el gen c.203 T > G que induce pérdida de función que conduce a PLS, así como una mutación en el alelo HLA-DRB1*11, que se asocia a este síndrome. No presenta consanguinidad de los padres, padres y hermanos totalmente sanos. La identificación temprana de las principales características de este síndrome es imperativa. El diagnóstico certero por análisis genético permite diagnósticos diferenciales y tratamientos odontológicos integrales oportunos. Conclusiones: Adicionalmente, permite la consulta con un dermatólogo para mantener o mejorar la calidad de vida de los pacientes con esta condición debido al progresivo empeoramiento y severidad de las principales manifestaciones físicas.
Subject(s)
Humans , Male , Child , Papillon-Lefevre Disease/diagnostic imaging , Keratoderma, Palmoplantar , Cathepsin C/genetics , Papillon-Lefevre Disease/therapyABSTRACT
Objetivo: Determinar las características clínicas y demográficas de los pacientes con lesiones de piel atendidos en un hospital general de Trujillo, Perú. Material y métodos: Estudio transversal, descriptivo, observacional y retrospectivo. Se hizo la revisión microscópica de 385 biopsias de piel de los archivos de Patología y de las historias clínicas de pacientes atendidos en el Hospital del Belén de Trujillo, durante el periodo comprendido entre enero del 2018 y diciembre del 2019. Resultados: La lesión más frecuente fue el carcinoma basocelular, localizado en alguna parte del rostro y de presentación mayor a edades de 60 años o más. En segundo lugar, carcinoma epidermoide. Las lesiones malignas afectaron al 66,7% de pacientes entre 55 y 79 años, con edad promedio de 67 años. En su mayoría (65,8%) fueron varones desocupados. De las lesiones benignas, la más frecuente fue el quiste de inclusión epidérmica y se ubicó en el tronco de varones entre 20 y 24 años. En segundo lugar, el pilomatrixoma se ubicó en los miembros superiores de menores de 10 años. Afectaron al 59,6%, entre los 30 y 54 años, con edad promedio de 44,1 años. En su mayoría (63,7%), se reportaron como ama de casa. Procedieron en su mayor parte de los distritos de Trujillo. No fue posible establecer el agente injuriante. Conclusiones: En personas de piel trigueña o cobriza, las lesiones tanto benignas como malignas tuvieron un patrón de presentación similar a la de otros estudios, tanto en localización, grupo etario y sexo. La procedencia y la ocupación no fueron contributorias.
SUMMARY Objective : To determine the clinical and socio demographic features of patients attended at a public hospital in Trujillo, Peru. Methods : A cross-sectional study that included 385 skin biopsies obtained from the archives of the Pathology Department and from the clinical charts of these patients at Hospital Belen in Trujillo from January 2018 to December 2019 was carried-out. Results : The most common entity was basocellular carcinoma located on the face in patients above 60 years of age. The second most common entity was epidermoid carcinoma. Malignant lesions affected 66.7% of patients between 55 and 79 years of age with a mean of 67 years. Most of the patients were unemployed males (65.8%). The most common benign lesion was the epidemic inclusion cyst mostly in the trunk among males from 20 to 24 years of age. The second most common benign lesion was the pilomatrixoma mostly located in the upper limbs of patients below 10 years of age. Benign lesions affected the 59.6% of the sample between 30 to 54 years of age with a mean of 44 years, mostly among housewives. Most of the patients came from districts of Trujillo. The causal agent was not identified. Conclusions : In mestizo patients both benign and malignant lesions had a clinical presentation similar as reported in the literature regarding location, age and gender distribution. Occupation and precedence were not contributory..