Mastocitose sistêmica: visão do dermatologista e relato de um caso associado a líquen plano / Systemic mastocytosis: a dermatologist's view and report of a case associated with lichen planus

Contexto: A mastocitose ocorre devido a uma proliferação neoplásica e clonal de mastócitos que se acumulam em um ou mais sistemas de órgãos. A doença é heterogênea, com manifestações que vão desde lesões cutâneas que podem regredir espontaneamente até neoplasias altamente agressivas associadas à falência de múltiplos órgãos e baixa sobrevida. Não há relatos na literatura de sua associação com líquen plano. Descrição do caso: Relatamos o caso de uma paciente com diagnóstico de mastocitose sistêmica agressiva que apresentou durante o acompanhamento quadro compatível com líquen plano. Discussão: O diagnóstico da mastocitose sistêmica é baseado em critérios que foram refinados recentemente. O tratamento classicamente envolve bloqueio de mediadores de mastócitos e terapia citorredutora para variantes avançadas da doença. Novas drogas como a midostaurina e o avapritinibe são promissoras. Conclusões: Mesmo não fazendo parte da rotina do dermatologista, a mastocitose sistêmica deve ser uma doença lembrada pelo acometimento da pele e potencial gravidade do quadro.

Telangiectasia macularis eruptiva perstans treated with narrow-band UVB phototherapy and heliotherapy during the COVID-19 pandemic

@#Telangiectasia macularis eruptiva perstans (TMEP) is a rare disease, previously classified as a variant of cutaneous mastocytosis. While no gold standard of treatment exists, several treatments have been studied. We report a case of a 63-year-old woman who presented with long-standing asymptomatic telangiectatic macules beginning on the upper chest, back, and bilateral arms, with occasional pruritus and no other systemic symptoms. Skin biopsy, along with Giemsa stain, revealed findings consistent with TMEP. The patient underwent testing for serum tryptase level, which was within normal limits. The patient was started on topical steroids for two weeks and antihistamine therapy, with a noted decrease in pruritus but no change in cutaneous lesions. She was then advised to start phototherapy, and subsequently underwent a total of five sessions of narrow-band ultraviolet B phototherapy, after which she noted lightening of the lesions. Due to the COVID pandemic, the patient was shifted to heliotherapy with continued lightening of lesions after two months of thrice weekly sessions. This rare case is supportive of narrow-band ultraviolet B phototherapy and heliotherapy as promising treatment options for cases of TMEP.

Update on perioperative hypersensitivity reactions: joint document from the Brazilian Society of Anesthesiology (SBA) and Brazilian Association of Allergy and Immunology (ASBAI) - Part II: etiology and diagnosis / Atualização sobre reações de hipersensibilidade perioperatória: documento conjunto da Sociedade Brasileira de Anestesiologia (SBA) e Associação Brasileira de Alergia e Imunologia (ASBAI) - Parte II: etiologia e diagnóstico

Abstract This second joint document, written by experts from the Brazilian Association of Allergy and Immunology (ASBAI) and Brazilian Society of Anesthesiology (SBA) concerned with perioperative anaphylaxis, aims to review the pathophysiological reaction mechanisms, triggering agents (in adults and children), and the approach for diagnosis during and after an episode of anaphylaxis. As anaphylaxis assessment is extensive, the identification of medications, antiseptics and other substances used at each setting, the comprehensive data documentation, and the use of standardized nomenclature are key points for obtaining more consistent epidemiological information on perioperative anaphylaxis.

Resumo Este segundo documento, escrito por especialistas da Associação Brasileira de Alergia e Imunologia (ASBAI) e da Sociedade Brasileira de Anestesiologia (SBA) interessados no tema anafilaxia perioperatória, tem por objetivo revisar os mecanismos fisiopatológicos, agentes desencadeantes (em adultos e crianças), assim como a abordagem diagnóstica durante e após o episódio. Por se tratar de uma avaliação abrangente, a identificação das medicações, antissépticos e outras substâncias usadas em cada região, registros detalhados, e nomenclatura padronizada são pontos fundamentais para a obtenção de dados epidemiológicos mais fidedignos sobre a anafilaxia perioperatória.

Update on perioperative hypersensitivity reactions: joint document of the Brazilian Society of Anesthesiology (SBA) and Brazilian Association of Allergy and Immunology (ASBAI) - Part I: post-crisis guidelines and treatment / Atualização sobre reações de hipersensibilidade perioperatória: documento conjunto da Sociedade Brasileira de Anestesiologia (SBA) e Associação Brasileira de Alergia e Imunologia (ASBAI) - Parte I: tratamento e orientação pós-crise

Abstract Experts from the Brazilian Association of Allergy and Immunology (ASBAI) and the Brazilian Society of Anesthesiology (SBA) interested in the issue of perioperative anaphylaxis, and aiming to strengthen the collaboration between the two societies, combined efforts to study the topic and to prepare a joint document to guide specialists in both areas. The purpose of the present series of two articles was to report the most recent evidence based on the collaborative assessment between both societies. This first article will consider the updated definitions, treatment and guidelines after a perioperative crisis. The following article will discuss the major etiologic agents, how to proceed with the investigation, and the appropriate tests.

Resumo Especialistas da Associação Brasileira de Alergia e Imunologia (ASBAI) e da Sociedade Brasileira de Anestesiologia (SBA) interessados no tema anafilaxia perioperatória reuniram-se com o objetivo de intensificar a colaboração entre as duas sociedades no estudo desse tema e elaborar um documento conjunto que possa guiar os especialistas de ambas as áreas. O objetivo desta série de dois artigos foi mostrar as evidências mais recentes alicerçadas na visão colaborativa entre as sociedades. Este primeiro artigo versará sobre as definições mais atuais, formas de tratamento e as orientações após a crise no perioperatório. No próximo artigo serão discutidos os principais agentes causais e a condução da investigação com testes apropriados.

Morphological changes of the cellularity in the prostatic gland from patients with confirmed cancer: Gleason level and presence of eosinophils and mast cells: cellular bioindicators / Cambios morfológicos de la celularidad en la glándula prostática de pacientes con cáncer confirmado: nivel de gleason y presencia de eosinófilos y mastocitos: bioindicadores celulares

The different pathologies of the prostate, involve the presence of a new microenvironment where inflammatory cells are actively recruited. This research explores the presence of mast cells and eosinophils associated with age and the evaluation of prostate cancer progress (Gleason Index). Forty two biopsies of anonymized patients, with confirmed prostate cancer, were used for histological analysis for eosinophils and mast cells and subsequent determination of Gleason index according to age. The results of the histological analyzes show the presence of eosinophils and mast cells in prostate biopsies with confirmed cancer. In the multiple correlation studies, a high correlation was observed between the presence of lymphocytes and the age of the patient diagnosed with prostate cancer, same correlation was observed between the patient's age and higher Gleason Index (Pearson and Spearman p< 0.05). It is concluded that in prostate biopsies from Chilean patients with confirmed cancer, eosinophilia and tissue mastocytosis were observed. Correlation analyzes show a direct correlation between older patients, higher Gleason index and presence of mast cell. Regarding eosinophilia, only a correlation between age and Gleason index was observed Further studies are suggested to determine that the presence of eosinophils and mast cells can be used as early bioindicators of prostate cancer.

Las diferentes patologías de próstata, involucran la presencia de un nuevo microambiente donde las células inflamatorias son activamente reclutadas. La presente investigación explora la presencia de mastocitos y eosinófilos asociadas a la edad y la evaluación del progreso del cáncer de próstata según índice de Gleason. Cuarenta y dos biopsias de pacientes anonimizados, con cáncer prostático confirmados, fueron utilizadas para su análisis histológico para eosinófilos y mastocitos y posterior determinación del índice de Gleason según edad. Los resultados de los análisis histológicos, muestran la presencia de eosinófilos y mastocitos en biopsias de próstata con cáncer confirmado. En los estudios de correlación múltiple, se observó una alta correlación entre la presencia de linfocitos, mastocitos y la edad del paciente diagnosticado con cáncer prostático, igual correlación se observó entre la edad del paciente y mayor índice de Gleason (Pearson y Spearman p<0,05). Se concluyó que en las biopsias de próstata de pacientes chilenos con cáncer confirmado, se observó eosinofilia y mastocitosis tisular. Los análisis de correlación muestran una correlación directa entre pacientes de mayor edad, índice de Gleason más alto y la presencia de mastocitos. Con respecto a la eosinofilia, solo se observó una correlación entre la edad y el índice de Gleason. Se sugieren estudios adicionales para determinar que la presencia de eosinófilos y mastocitos puede usarse como bioindicadores tempranos del cáncer de próstata.

Mastocitoma solitario ampollar / Solitary Blister Mastocytoma

La mastocitosis comprende un conjunto de desórdenes con expansión anormal y acumulación de mastocitos en diversos órganos incluida la piel, en la cual se describen distintas formas clínicas de presentación. El mastocitoma cutáneo solitario constituye el 10-15% de todas las mastocitosis. Presentamos el caso de un niño con mastocitoma cutáneo solitario ampollar, un cuadro infrecuente cuyo diagnóstico oportuno constituye un reto para pediatras y dermatólogos (AU)

Mastocytosis comprises a set of disorders with abnormal expansion and accumulation of mast cells in various organs including the skin, wich describes different form of clinical presentation. The solitary cutaneous mastocytoma constitutes 10-15 % of all mastocytosis. We present the case of a child with solitary blistering mastocytoma, an infrequent condition whose, timely diagnosis constitutes a challenge for pediatricians and dermatologists (AU)

Atualização sobre reações de hipersensibilidade perioperatória: Documento conjunto da Sociedade Brasileira de Anestesiologia e Associação Brasileira de Alergia e Imunologia ­ Parte II: etiologia e diagnóstico / Update on perioperative hypersensitivity reactions: Joint document from the Brazilian Society of Anesthesiology and Brazilian Association of Allergy and Immunology ­ Part II: Etiology and diagnosis

A anafilaxia perioperatória é manifestação importante no contexto de eventos adversos relacionados à cirurgia. Embora frequentemente relacionada à indução anestésica, pode ocorrer por outros agentes administrados por outras vias. A anafilaxia pode se apresentar como colapso cardiovascular, obstrução da via aérea e/ou insuficiência respiratória com ou sem manifestação cutânea, com consequências fatais em muito casos. Apesar de considerada inevitável em alguns casos, a sua incidência poderia (e deveria) ser reduzida através da busca por fármacos mais seguros. A avaliação abrangente de um episódio é um dos elementos primordiais para tornar a exposição subsequente mais segura, com orientações derivadas dessa investigação. Entretanto, representa um desafio estatístico por ser reação rara, randômica e muitas vezes independente de exposições sucessivas dos pacientes a procedimentos de baixo risco. Neste documento são revisados os mecanismos fisiopatológicos, agentes desencadeantes (adultos e crianças), assim como a abordagem diagnóstica durante a crise e após o episódio. Uma avaliação abrangente, a identificação das medicações, antissépticos e outras substâncias usadas em cada região, registros detalhados e nomenclatura padronizada são pontos fundamentais para a obtenção de dados epidemiológicos mais fidedignos sobre a anafilaxia perioperatória.

Perioperative anaphylaxis is an important manifestation in the context of surgery-related adverse events. Although often related to anesthetic induction, it may be caused by other agents administered by other routes. Anaphylaxis may manifest as cardiovascular collapse, airway obstruction and/or respiratory failure with or without skin manifestation, resulting often in death. Although this reaction is considered inevitable in some cases, its incidence could (and should) be reduced by the search for safer drugs. Comprehensive assessment of an allergic reaction is a key element to make subsequent exposure safer, with guidance derived from this investigation. However, surveillance of perioperative anaphylaxis represents a statistical challenge because this is a rare, random reaction and often independent of successive patient exposures to low-risk procedures. This paper reviews pathophysiological mechanisms, triggering agents (adults and children), as well as therapeutic and diagnostic approach during and after an allergic reaction. Comprehensive assessment, identification of medications/antiseptics used in each region and detailed records with standardized terminology are key points for obtaining more reliable epidemiological data on perioperative anaphylaxis.

Escabiose mascarada por mastocitose sistêmica / Scabies masked by systemic mastocytosis

Paciente do sexo feminino, com 59 anos de idade, portadora de mastocitose sistêmica há 20 anos. A mastocitose é doença rara, caracterizada pela proliferação excessiva e o subsequente acúmulo de mastócitos em órgãos e tecidos, principalmente na medula óssea, pele e no trato gastrointestinal. Há 1 mês, relatava história de novas lesões cutâneas caracterizadas por pápulas e placas eritemato-edematosas com escoriação e intenso prurido. Feito o raspado da pele com confirmação diagnóstica de escabiose.

A 59-year-old female patient had a diagnosis of systemic mastocytosis for 20 years. Mastocytosis is a rare disease characterized by excessive proliferation and accumulation of mast cells in organs and tissues, especially in the bone marrow, skin and gastrointestinal tract. She reported new skin lesions characterized by erythematous papules and plaques with excoriation and intense itching for one month. Skin scraping confirmed the diagnosis of scabies.

Características clínicas, histopatológicas e imuno-histoquímicas do mastocitoma cutâneo equino: relato de caso / Clinical, histopathological and immunohistochemical chacteristics ofequine cutaneous mastocytoma: case report

Uma égua puro sangue árabe, com 3 anos de idade, pertencente ao rebanho experimental da FMVZ-USP apresentou lesões tumorais cutâneas nos membros pélvicos direito e esquerdo com aproximadamente um ano de evolução. Notou-se nova formação cutânea com crescimento rápido na região do pescoço, e desde então, as lesões dos membros ganharam características inflamatórias. Foi realizada punção aspirativa da lesão do pescoço para análise citológica, em que se identificou infiltrado eosinofílico. Optou-se pelo início de tratamento conservativo com três infiltrações intralesionais consecutivas com corticoesteroide. A partir da falta de sucesso das infiltrações foram realizadas as excisões cirúrgicas totais dos nódulos do pescoço, membro pélvico direito e esquerdo. Todos os materiais obtidos dos procedimentos cirúrgicos foram enviados para avaliação histopatológica e imuno-histoquímica, nas quais se confirmou o diagnóstico de mastocitoma cutâneo. O animal recebeu alta após a cicatrização das feridas cirúrgicas e remissão dos sinais, e não demonstrou recidivas ou outras complicações advindas das lesões tumorais. Algumas neoplasias cutâneas são bem descritas e de comum ocorrência na espécie equina, como o sarcoide, melanoma, papiloma e tumor de células escamosas. Já o mastocitoma cutâneo consiste em neoplasia cutânea rara nessa espécie. Segundo a literatura, não parece existir uma predileção racial para o aparecimento deste tumor, entretanto, alguns autores citam o acometimento maior nos animais Puro Sangue Árabe. Para o estabelecimento do diagnóstico definitivo é importante a associação dos exames físico, histopatológico e imuno-histoquímico e, apesar desta neoplasia ser de raro aparecimento nos equinos, deve ser sempre considerada como diagnóstico diferencial.

A 3 year-old mare, Arab, that belongs to the experimental herd of FMVZ-USP presented cutaneous tumor lesions on right and left posterior limb with approximately one year of evolution. A new formation with rapid growth was observed on the neck region, and since then, the limbs lesion gained inflammatory characteristics. Aspirative punction was performed on the neck formation in order to submit the sample to cytological analyses, in which eosinophilic infiltrate was identified. At this point, a conservative approach was chosen with three consecutive corticoid infiltrations. With lack of success of infiltrative therapy, neck, right and left posterior limbs lesions were surgically removed. The materials obtained from surgical procedures were sent to histophatological and immunohistrochemical evaluation that confirmed cutaneous mastocytoma diagnosis. The mare was discharged after all surgical wound were healed and after full remission of clinical signs, and did not show relapses or any other complication from tumor lesions. Some cutaneous tumors are well described and commonly occur in horses, such as sarcoids, melanoma, papilloma and squamous cell carcinoma. Cutaneous mastocytoma is considered a rare cutaneous tumor in this species. According to literature, equine mastocytoma do not have breed predilection, however, some authors mention a greater involvement in Purebreed Arabian horses. In order to establish a definitive diagnosis, it is important to associate physical exams to histophatological an immunohistochemical evaluation and, even though rare in horses, this neoplasm must be considered as a differential diagnosis.

Eosinofilia duodenal en pacientes Colombianos con dispepsia funcional: un estudio de casos y controles / Duodenal eosinophilia in functional dyspepsia in a Colombian sample: a case-control study

Introducción: La dispepsia funcional (DPF) es una entidad compleja cuya fisiopatología no está claramente definida. Existen alteraciones motoras gastroduodenales y recientemente se ha dado importancia a la eosinofilia duodenal. Objetivo: El objetivo de este estudio fuedeterminar si existe asociación entre eosinofilia duodenal y DPF. Materiales y métodos: Estudio de casos y controles. Pacientes mayores de 18 años con dispepsia según ROMA IV, a quienes se descartó DP orgánica con endoscopia alta (EVDA). Los controles fueron pacientes con anemia ferropénica y diarrea crónica a quienes de rutina se toman biopsias tanto del estómago como del duodeno. Se calcularon 70 pacientes en cada grupo. La información se recolectó en un formulario específico. Resultados: Hubo 243 pacientes elegibles. Se incluyeron 84 pacientes en grupo. El 80% eran mujeres. Edad promedio 53,6 años. Se encontró eosinofilia duodenal con diferencia significativa en los pacientes con saciedad precoz (p=0,01). No hubo diferencia significativa en los pacientes con llenura posprandial (p=0,63), dolor o ardor epigástrico (p=0,26), síntomas de reflujo gastroesofágico (p=0,13), alergia e intolerancia a alimentos (p=0,42) y tabaquismo (p=0,28). Asimismo, no se encontró relación entre mastocitosis duodenal y saciedad precoz (p=0,98), llenura posprandial (p=0,78) y dolor o ardor epigástrico (p=0,82). Conclusiones: La eosinofilia duodenal fue más frecuente en pacientes con DPF que tenían saciedad precoz.

Introduction: Functional dyspepsia (FD) is a complex symptom. Currently there are multiple therapeutic options that are used for the management of these patients; however, FD therapies are based on symptomatic control and do not address the pathophysiological pathways involved in its development. The duodenum has been proposed as a key site to understand the complex pathophysiology involved in FD. Objective: The aim of the study is to determine duodenal eosinophilia in patients with FD and establish the clinical-pathological correlation with the cardinal symptoms of dyspepsia. Material and methods: Case-control study. Patients older than 18 years with dyspepsia according to the Rome IV criteria, and upper gastrointestinal endoscopy normal (FD group).Patients with iron deficiency anemia and chronic diarrhea (control group). Biopsies were taken in the stomach, duodenal bulb and second portion of duodenum. A sample size of 140 patients (70 patients in the FD group and 70 patients in the control group) was calculated. The collected information was described and analyzed by conventional statistical techniques. Results: 243 patients were recruited. 84 patients were included in the FD group and 84 patients in the control group. 135 patients were women (80.3%). The mean age was 53.6 years (SD 14.9). Duodenal eosinophilia was found with significant difference in patients with early satiety (p=0.01). There was no difference in patients with postprandial fullness (p=0.63), epigastric pain or burning (p=0.26), gastroesophageal reflux symptoms (p=0.13), allergy and food intolerance (p=0.42) and smoking (p=0.28). There was no relationship between duodenal mastocytosis and early satiety (p=0.98), postprandial fullness (p=0.78), and epigastric pain or burning (p=0.82). Conclusions: Duodenal eosinophilia was similar in FD and controls. In subgroup analysis, duodenal eosinophilia occurs in patients with early satiety.

Solitary mastocytoma presenting at birth

Mastocytosis is a rare disease which occurs in both children and adults, and it can manifest as a solitary or multiple skin lesions. Both can cause cutaneous or systemic symptoms. Because of the heterogeneity of clinical presentation of mastocytosis and its rare prevalence, it can be hard to suspect the mastocytosis at the first time. Most solitary mastocytomas are about 1–5 cm in diameter and have features of brownish-yellow, minimally elevated plaques with a smooth shiny surface. This article presents a case of solitary mastocytoma which occurred in neonate and that we treated through surgical excision. In histopathological examination, it consisted of c-kit-positive mast cells. Although pediatric cutaneous mastocytosis might regress spontaneously, clinicians should keep in mind that it could be associated with systemic mastocytosis which involves hematopoietic system.

Successful Remission of Recurrent Anaphylaxis after Omalizumab Administration in a Patient with Systemic Mastocytosis / 대한내과학회지

Mastocytosis is a disorder characterized by abnormal mast cell proliferation and accumulation in one or more tissues. It presents in two major variants: cutaneous mastocytosis and systemic mastocytosis. Because the symptoms are related to mast cells, histamine receptor antagonists and leukotriene receptor antagonists are recommended as therapeutic options. Here, we report a 54-year-old male patient with a history of urticaria pigmentosa who presented with recurrent anaphylaxis. His serum tryptase level was 31.7 ng/mL and mast cell infiltration was observed in his bone marrow. He had frequent attacks of anaphylaxis despite treatment with ketotifen, levocetirizine, and montelukast. Symptoms related to systemic mastocytosis were controlled and the patient exhibited no recurrence of anaphylaxis following the introduction of monthly omalizumab injection. Omalizumab can be considered as a treatment option in patients with systemic mastocytosis unresponsive to conventional oral medications.

Dermografismo "mixto o bifásico" / "Mixed or biphasic" Dermographism

El dermografismo, conocido como "escritura sobre la piel", fenómeno que ocurre en forma espontánea o a la provocación física de la misma, es un síntoma, signo o síndrome semiológico, característico de procesos clínicos alérgicos y no alérgicos. Se expresa comúnmente como dermografismo rojo (urticaria dermatográfica, con o sin angioedema acompañante), con eritema y/o roncha muy frecuente en procesos alérgicos, pero también en las urticarias físicas, autoinmunes o tóxicas por aditivos alimentarios, infecciones, medicamentos y otros agentes. El dermografismo blanco, que se evidencia como un área que palidece alrededor de la línea de estimulación física, muy característico de la atopia; y, el que en esta comunicación hemos denominado dermografismo "mixto o bifásico", por su carácter bimodal, en el que se alternan las expresiones de los dermografismos rojo y blanco, en forma casi simultánea o en sucesión de blanco temprano en el primer minuto a rojo tardío a los cinco minutos o más, o al contrario, rojo inmediato y blanco posterior, típico de atopia. El paciente con hiperreactividad atópica en piel es el que exhibe el dermografismo mixto o bifásico, pues muestra el dermografismo blanco como estigma de atopia y el dermografismo rojo de la urticaria sintomática aguda o crónica. Esta última forma de dermografismo no se encuentra en las descripciones clásicas y es el objetivo de esta comunicación, que se acompaña de una amplia discusión sobre la ocurrencia de dermografismo en la práctica clínica. Material y Métodos: Se realizó una extensa revisión bibliográfica, consultando bases de datos como Medline, PubMed, DocChek, Wiley, Amedeo, Cochrane, Scielo, Hinari y Lilacs; se presentan viñetas clínicas de casos de pacientes atópicos. Conclusión: En esta revisión se ha presentado la ocurrencia clínica del dermografismo como un fenómeno frecuente de diferentes orígenes, pero que, muchas veces, es acompañante casi invariable de expresiones atópicas, en donde el dermografismo es un signo de ayuda para la tipificación del paciente alérgico...(AU)

Telangiectasia macular eruptiva perstans: reporte de caso y revisión de la literatura / Telangiectasia macularis eruptiva perstans: case report and literature review

La Telangiectasia Macular Eruptiva Perstans (TMEP), forma infrecuente de mastocitosis cutánea consiste en la proliferación anormal de mastocitos en dermis papilar sin participación de otros órganos. Afecta mayormente a adultos, con algunos informes en niños. Típicamente, las lesiones de TMEP son máculas eritematosas con finas telangiectasias, distribuidas principalmente en tronco y extremidades superiores con un patrón simétrico, puede presentar afectación sistémica o asociarse con neoplasias linfoproliferativas. Se presentan dos casos de TMEP en una mujer de 32 años cuyo inicio coincidió con su primera gestación y el de una mujer de 55 años, ambas sin síntomas sistémicos, se discute la presentación clínica, histopatología y tratamiento.

Macular telangiectasia eruptiva perstans (TMEP), an uncommon form of cutaneous mastocytosis, consists in the abnormal proliferation of mast cells in the papillary dermis without the participation of other organs. It affects almost exclusively adults, with some reports in children. Typically, TMEP lesions are erythematous macules with fine telangiectasias, distributed mainly in the trunk and upper limbs with a symmetrical pattern, may present systemic involvement or be associated with lymphoproliferative neoplasms. We present two cases of TMEP in a 32-year-old woman whose onset coincided with her first pregnancy and that of a 55-yearold woman, both without systemic symptoms, whose clinical presentation, histopathology and treatment are discussed.

The roles of mast cells in allergic inflammation and mast cell-related disorders

Mast cells, which are major effector cells in allergic reactions, are found in the perivascular spaces of most tissues and contain pro-inflammatory and vasoactive mediators. These mediators are released after IgE receptor cross-linking induced by allergens or other stimuli, including anaphylatoxins (C3a and C5a), aggregated IgG, certain drugs, venoms, and physical stimuli (pressure and temperature changes), as well as cytokines and neuropeptides. The excess release of these mediators can cause variable allergic symptoms and signs, such as bronchospasm, itching, flushing, nausea, vomiting, diarrhea, abdominal pain, vascular instability, and anaphylaxis. Furthermore, mast cell disorders may involve either excessive proliferation of mast cells or abnormal mast cell reactivity. Mast cell disorders can be broadly divided into 3 types: primary, secondary, and idiopathic. All of these disorders present with signs and symptoms of mast cell activation and differ in severity and involvement of various organ systems. The best characterized primary disorder is mastocytosis. Systemic and cutaneous forms of the disease are well described. Secondary disorders include typical allergic diseases and some types of urticarial diseases. In this article, the biochemical characteristics of mast cells and the role of mast cells in allergic inflammation, as well as the classification, diagnosis, and management of mast cell-related disorders, will be reviewed.

Manifestaciones óseas de la mastocitosis cutánea. presentación de un caso / Bone manifestations of cutaneous mastocytosis. report of a case

La mastocitosis es una genodermatosis, de etiología desconocida, considerada entre las enfermedades raras o poco frecuentes. Se caracteriza por acumulación local o sistémica de células cebadas, originando principalmente manifestaciones cutáneas. Las manifestaciones óseas forman parte del cuadro clínico de esta rara afección, aunque su hallazgo suele ser infrecuente. En este trabajo se presenta el caso de un paciente de 7 arios de edad, diagnosticado de mastocitosis cutánea, quien presenta manifestaciones óseas de esta enfermedad, cuyo conocimiento, consideramos, es de importancia para esta enfermedad.

Mastocytosis is a genodermatosis of unknown etiology, considered among the rare or infrequent. It is characterized by local or systemic accumulation of mast cells, originating mainly cutaneous manifestations. Bone manifestations are part of the clinical picture of this rare condition, although their discovery is usually rare. In this paper the case of a seven-year-old diagnosed with cutaneous mastocytosis who presents skeletal manifestations of this disease occurs, which we believe is of importance for understanding the medical community.

Urticaria Pigmentosa de presentación atípica en la infancia: reporte de un caso clínico / Pigment urticaria of atypical presentation in childhood: clinical case report

La Urticaria Pigmentosa es el tipo más frecuente de mastocitosis cutánea (MC) de inicio en la edad pediátrica, representando el 75 por ciento de las MC. Se presenta con máculas y/o pápulas de color amarillo a café-rojizo, usualmente con signo de Darier positivo y prurito. El 88 por ciento presenta compromiso de tronco. En este artículo compartimos el caso de Urticaria Pigmentosa de presentación atípica: predominio de lesiones en cara y sin compromiso de tronco.(AU)

Urticaria Pigmentosa is the most common form of cutaneous mastocytosis (CM) starting in childhood and accounts for 75 percent of all the CM cases. It presents with yellow to brown-reddish macules or papules, usually with positive Darier sign and itching. Trunk involvement is present in 88 percent of patients. In this article we describe a case of Urticaria Pigmentosa with an atypical presentation: facial predominance without trunk involvement. (AU)

Endomyocardial Fibrosis: is it a Systemic Disease?

Background: Patients with endomyocardial fibrosis (EMF) characteristically present with gross ascites and absent or minimal pedal oedema. This has long puzzled clinicians; especially since this clinical picture remains the same regardless of whether there is left; right or biventricular ventricular heart failure. The development of ascites; therefore; may not be directly and solely related to changes in the heart; but to local changes in the peritoneum. In order to investigate this possibility we performed peritoneal biopsies on 28 EMF patients.Methods: Successful peritoneal biopsies were performed on 28 EMF patients and 11 age-matched healthy controls who had died in road accidents.Results: All 28 patients (100%) showed complete or partial peritoneal fibrosis. Twenty Six (93%) had additional signs of chronic peritonitis characterised mainly by lymphocytes (92%) eosinophils (27%) and plasma cells (23%). Neutrophils were not seen. Vascularisation was common (87%) with an increase in capillaries and granulation tissue. Other components were Russel bodies (50%); deposits of fibrin (50%) and haemosiderin pigment (32%). Only two samples showed fibrosis without signs of inflammation. None of the controls showed any of these changes.Conclusion: Peritoneal fibrosis was found in all and peritonitis in most of our EMF patients. This suggests that pathology of EMF is not confined to the heart but also involves the peritoneum. This local peritoneal inflammation may explain why marked ascites is often present with little or no peripheral oedema; and why conventional heart failure treatment is of limited value

Chronic intractable diarrhea caused by gastrointestinal mastocytosis

As mast cells have been highlighted in the pathogenesis of diarrhea-predominant irritable bowel syndrome, a new term "mastocytic enterocolitis" was suggested by Jakate and colleagues to describe an increase in mucosal mast cells in patients with chronic intractable diarrhea and favorable response to treatment with antihistamines. Although it is not an established disease entity, two cases have been reported in the English medical literature. Here, for the first time in Asia, we report another case of chronic intractable diarrhea caused by gastrointestinal mastocytosis. The patient was a 70-year-old male with chronic intractable diarrhea for 3 months; the cause of the diarrhea remained obscure even after exhaustive evaluation. However, biopsy specimens from the jejunum were found to have increased mast cell infiltration, and the patient was successfully treated with antihistamines.

Esophageal Mast Cell Infiltration in a 32-Year-Old Woman with Noncardiac Chest Pain

Noncardiac chest pain (NCCP) is one of the most common esophageal symptoms and lacks a clearly defined mechanism. The most common cause of NCCP is gastroesophageal reflux disease (GERD). One of the accepted mechanisms of NCCP in a patient without GERD has been altered visceral sensitivity. Mast cells may play a role in visceral hypersensitivity in irritable bowel syndrome. In this case, a patient with NCCP and dysphagia who was unresponsive to proton pump inhibitor treatment had an increased esophageal mast cell infiltration and responded to 14 days of antihistamine and antileukotriene treatment. We suggest that there may be a relationship between esophageal symptoms such as NCCP and esophageal mast cell infiltration.