VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory syndrome characterized by somatic mutations in the UBA1 gene and is considered the prototype of hematoinflammatory diseases. Patients with VEXAS syndrome exhibit inflammatory and hematological manifestations that can lead to clinical diagnoses such as relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, and myelodysplastic syndrome. Diagnosis requires bone marrow evaluation to identify cytoplasmic vacuoles in myeloid and erythroid precursors. However, genetic confirmation of mutations in UBA1 is necessary. Treatment is challenging and often involves glucocorticoids and immunosuppressants with variable responses. Hypomethylating agents and allogenic haemopoietic stem cell transplant are considered promising therapies. Prognosis is influenced by genetic and clinical factors. The aim of this review is to provide an overview of the pathogenesis, clinical presentation, treatment, and prognosis of VEXAS syndrome for the Latin American medical community.

Neuro-Sweet Syndrome: A Diagnostic Conundrum.

Sweet Syndrome presents as acute fever, leucocytosis and characteristic skin plaques. It can involve many organ systems but rarely affects the nervous system. We report the case of a 51-year-old female that presented with fever, rash, headache and encephalopathy. Brain magnetic resonance imaging showed extensive T2 hyperintensities involving cerebral hemispheres, cerebellum, and brainstem. A skin biopsy revealed dermal infiltration by neutrophils consistent with Sweet Syndrome. She started steroid treatment with a good clinical response. Further questioning revealed that she had a similar episode 10 years prior that had been diagnosed as acute disseminated encephalomyelitis. Neuro-Sweet Syndrome can present with a great array of symptoms and relapses over long periods of time making the diagnosis difficult without a high degree of suspicion. Clinicians should consider this syndrome in the setting of acute encephalitis with white matter lesions that are highly responsive to steroids particularly in the presence of previous similar symptoms.

Síndrome de Sweet posinfeccioso

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.

Dermatological manifestations of hematologic neoplasms. Part II: nonspecific skin lesions/paraneoplastic diseases

Abstract Cutaneous manifestations occur in the course of hematologic malignancies and precede, accompany or occur late in relation to the diagnosis. They result from paraneoplastic phenomena, tumor infiltrations, immunosuppression resulting from the hematologic disease itself or its treatment. The dermatologist must be aware of these conditions that may be helpful both in the diagnosis of the underlying disease and in reducing patient morbidity. This review (part II) addresses the paraneoplastic dermatological changes associated with systemic hematologic malignancies.

Dermatological manifestations of hematologic neoplasms. Part II: nonspecific skin lesions/paraneoplastic diseases.

Cutaneous manifestations occur in the course of hematologic malignancies and precede, accompany or occur late in relation to the diagnosis. They result from paraneoplastic phenomena, tumor infiltrations, immunosuppression resulting from the hematologic disease itself or its treatment. The dermatologist must be aware of these conditions that may be helpful both in the diagnosis of the underlying disease and in reducing patient morbidity. This review (part II) addresses the paraneoplastic dermatological changes associated with systemic hematologic malignancies.

Sweet Syndrome in an Adolescent Patient With Differentiation Syndrome Secondary to Promyelocytic Leukemia Treatment With All-Trans Retinoic Acid.

Sweet syndrome (SS) is an acute febrile neutrophilic dermatosis that is histologically characterized by an infiltration of the dermis by neutrophils. A 12-year-old adolescent female patient recently diagnosed with acute promyelocytic leukemia presented with fever and was hospitalized for antibiotic management after 22 days of being treated with a treatment protocol based on daunorubicin, all-trans retinoic acid (ATRA), and prophylaxis with dexamethasone, the patient developed erythematous skin lesions located mostly on the extremities. Lesions evolved into painful subcutaneous nodules, and one lesion evolved into a 2.5-cm blister with a purple and necrotic base. A skin biopsy was performed and showed neutrophilic dermatosis which confirmed the diagnosis of SS. The patient's clinical features complied with criteria for differentiation syndrome complicated by shock. Two days after ATRA was suspended, the patient presented resolution of the fever and skin lesions. SS is a rare neutrophilic dermatosis secondary to an innate immune disorder classified into four categories: classical (idiopathic), para-inflammatory, paraneoplastic or pregnancy-related. SS has been described in patients with acute myeloid leukemia in adults secondary to the use of drugs such as ATRA or as a part of a paraneoplastic syndrome. SS can occur exceptionally in children with myeloid leukemia secondary to the use of drugs such as ATRA.

Skin manifestations associated with systemic diseases - Part I

Abstract The skin demonstrates what is happening in the body in many diseases, as it reflects some internal processes on the surface. In this sense, skin as an organ, goes beyond its protective and barrier functions, as it provides clues for the identification of some systemic diseases. The dermatologist then raises diagnostic hypotheses for conditions related to all systems and refers them to the appropriate specialty. With easy access to examination by trained eyes and biopsies, the skin can present specific or non specific alterations on histopathology. In the first case this combination establishes the diagnosis of the disease itself. Non specific manifestations can occur in a variety of contexts and then histopathology is not specific of a particular disease. This article is divided into two parts that will cover large groups of diseases. In this first part, cutaneous manifestations of the main rheumatologic diseases are described, which are the ones with the greatest interface with dermatology. The authors also talk about vascular manifestations and granulomatous diseases. In the second part, endocrinological, hematological, oncological, cardiovascular, renal, gastrointestinal diseases, pruritus and its causes are discussed, and finally, the dermatological manifestations of SARS-CoV-2 coronavirus infection. The authors' intention is that, by using direct and easily accessible language, aim to provide practical material for consultation and improvement to all dermatologists who recognize the importance of a comprehensive assessment of their patients.

Síndrome de SWEET. A propósito de 1 caso / SWEET syndrome. About 1 case

El Síndrome de Sweet llamado también dermatosis neutrofílica febril aguda es una enfermedad rara, de naturaleza inflamatoria, caracterizada por fiebre de inicio agudo, neutrofilia, lesiones cutáneas eritematosas y dolorosas, infiltrado típico de neutrófilos en la dermis superior y rápida mejoría con corticoesteroides sistémicos. Presenta formas típicas y atípicas, las primeras cumplen con todos los criterios de diagnóstico y las causas pueden ser neoplásica, infecciosa, fármacos, embarazo y a veces idiopática. Se presenta un caso de Síndrome de Sweet típico en una mujer, probablemente desencadenado por un cuadro infeccioso de vías aéreas superiores con confirmación histológica y buena respuesta a la corticoterapia, con remisión total y sin recidiva a la fecha

Sweet syndrome, also known as acute febrile neutrophilic dermatosis, is a rare, inflammatory disease characterized by acute-onset fever, neutrophilia, erythematous and painful skin lesions, a typical neutrophil infiltrate in the upper dermis, and rapid improvement with systemic corticosteroids. It presents typical and atypical forms, the former meet all diagnostic criteria and the causes can be neoplastic, infectious, drugs, pregnancy, and sometimes idiopathic. We present a case of typical Sweet syndrome in a woman, probably triggered by an infectious picture of the upper airways with histological confirmation and good response to corticosteroid therapy, with total remission and no recurrence to date

Neutrophilic dermatosis of the dorsal hands related to cocaine abuse

Abstract Neutrophilic dermatoses encompass a wide spectrum of diseases characterized by a dense infiltration mainly composed of neutrophils. Neutrophilic dermatosis of the dorsal hands is currently considered a localized variant of Sweet syndrome. Cocaine abuse has been related to a wide range of mucocutaneous manifestations, including neutrophilic dermatoses such as pyoderma gangrenosum. The authors of this study present a patient with neutrophilic dermatosis of the dorsal hands, in which cocaine abuse was identified as a probable trigger.

Skin manifestations associated with systemic diseases - Part I.

The skin demonstrates what is happening in the body in many diseases, as it reflects some internal processes on the surface. In this sense, skin as an organ, goes beyond its protective and barrier functions, as it provides clues for the identification of some systemic diseases. The dermatologist then raises diagnostic hypotheses for conditions related to all systems and refers them to the appropriate specialty. With easy access to examination by trained eyes and biopsies, the skin can present specific or non specific alterations on histopathology. In the first case this combination establishes the diagnosis of the disease itself. Non specific manifestations can occur in a variety of contexts and then histopathology is not specific of a particular disease. This article is divided into two parts that will cover large groups of diseases. In this first part, cutaneous manifestations of the main rheumatologic diseases are described, which are the ones with the greatest interface with dermatology. The authors also talk about vascular manifestations and granulomatous diseases. In the second part, endocrinological, hematological, oncological, cardiovascular, renal, gastrointestinal diseases, pruritus and its causes are discussed, and finally, the dermatological manifestations of SARS-CoV-2 coronavirus infection. The authors' intention is that, by using direct and easily accessible language, aim to provide practical material for consultation and improvement to all dermatologists who recognize the importance of a comprehensive assessment of their patients.

Síndrome de Sweet por tuberculosis peritoneal: reporte de caso / Sweet's Syndrome due to peritoneal tuberculosis: Case report

Resumen La tuberculosis (TBC) peritoneal es una entidad poco frecuente y representa un 25 %-50 % de los casos de tuberculosis abdominal, y 0,1 %-0,7 % de todos los casos de tuberculosis. La mortalidad alcanza un 35 % cuando hay un retraso en el tratamiento, y un 73 % en pacientes con cirrosis. Además, tiene un gran espectro clínico, por lo que su diagnóstico diferencial abarca a nivel clínico patologías como cirrosis, malignidad, síndrome nefrótico, desnutrición; a nivel imagenológico enfermedad metastásica peritoneal, carcinomatosis de origen gástrico, pancreático, vesical, ovárico, colónico y enfermedades infecciosas como actinomicosis, coccidioidomicosis, histoplasmosis o micobacterias no tuberculosas. El diagnóstico se apoya inicialmente con química sanguínea, función hepática y renal, ultrasonido, tomografía computarizada (TC), paracentesis con citoquímico de líquido peritoneal, medición de adenosina-desaminasa (ADA) y reacción en cadena de polimerasa (PCR); no obstante, la laparoscopia con biopsia peritoneal y confirmación patológica o microbiológica siguen siendo el estándar de oro. Se han descrito casos de falsos negativos de la prueba ADA en situaciones de inmunosupresión o uso de antituberculosos. Se ha planteado el seguimiento de la actividad de la enfermedad midiendo los niveles de antígeno del cáncer 125 (CA-125). A continuación, presentamos un caso inusual de un paciente con TBC peritoneal con un síndrome de Sweet secundario, en quien inicialmente el reporte para ADA fue negativo, posiblemente debido a la administración de meropenem y en quien, además, se hizo el seguimiento de la actividad de la enfermedad con CA-125. Son muy excepcionales los reportes de falsos negativos de ADA y Sweet secundario a tuberculosis, por lo cual aportamos a la literatura con el reporte de nuestro caso.

Abstract Peritoneal tuberculosis is a rare disease that accounts for 25-50% of abdominal tuberculosis cases and 0.1-0.7% of all cases of tuberculosis. Mortality is 35% when treatment is delayed, and 73% in patients with cirrhosis. It also has a wide clinical spectrum, so its differential diagnosis covers conditions such as cirrhosis, malignancy, nephrotic syndrome, and malnutrition. Moreover, imaging studies may reveal peritoneal metastases; carcinomatosis of gastric, pancreatic, bladder, ovarian, colonic origin; and infectious diseases such as actinomycosis, coccidioidomycosis, histoplasmosis or non-tuberculous mycobacteria. Diagnosis is initially supported by blood chemistry, liver and renal function tests, ultrasound, CT scans, paracentesis with peritoneal fluid cytochemistry, and ADA and PCR measurement. The gold standard is laparoscopy with peritoneal biopsy and pathological or microbiological confirmation. Cases of false negatives of the ADA test have been described in immunosuppression or use of antituberculosis drugs. Monitoring of disease activity by measuring CA-125 levels has been considered. The following is the report of an unusual case of peritoneal TB with secondary Sweet's syndrome, in which the ADA report was initially negative, possibly due to meropenem administration, and in whom disease activity was monitored through Ca125. False negative reports of ADA and Sweet's secondary to TB are very rare, so this case contributes to the literature on these conditions.

Neutrophilic dermatosis of the dorsal hands related to cocaine abuse.

Neutrophilic dermatoses encompass a wide spectrum of diseases characterized by a dense infiltration mainly composed of neutrophils. Neutrophilic dermatosis of the dorsal hands is currently considered a localized variant of Sweet syndrome. Cocaine abuse has been related to a wide range of mucocutaneous manifestations, including neutrophilic dermatoses such as pyoderma gangrenosum. The authors of this study present a patient with neutrophilic dermatosis of the dorsal hands, in which cocaine abuse was identified as a probable trigger.

Sweet syndrome associated with secondary nodular syphilis in an immunocompetent patient

Abstract Sweet syndrome is an inflammatory disease characterized by fever, neutrophilia, papules and erythematous plaques, and a skin neutrophilic infiltrate. Syphilis has been reported among the infectious causes of Sweet syndrome. Syphilis can present atypical manifestations; a rare presentation is nodular syphilis, characterized by nodules with granulomas and plasma cells at histopathology. This case report presents a 20-year-old woman patient, with plaques and nodules, and systemic symptoms. The histopathological exam revealed both non-tuberculoid granulomas and a dense infiltration of polymorphonuclear neutrophils in the dermis. These findings, plus laboratory abnormalities, characteristic of both conditions, were conclusive for Sweet syndrome and nodular syphilis association.

Sweet syndrome associated with secondary nodular syphilis in an immunocompetent patient.

Sweet syndrome is an inflammatory disease characterized by fever, neutrophilia, papules and erythematous plaques, and a skin neutrophilic infiltrate. Syphilis has been reported among the infectious causes of Sweet syndrome. Syphilis can present atypical manifestations; a rare presentation is nodular syphilis, characterized by nodules with granulomas and plasma cells at histopathology. This case report presents a 20-year-old woman patient, with plaques and nodules, and systemic symptoms. The histopathological exam revealed both non-tuberculoid granulomas and a dense infiltration of polymorphonuclear neutrophils in the dermis. These findings, plus laboratory abnormalities, characteristic of both conditions, were conclusive for Sweet syndrome and nodular syphilis association.

Sweet syndrome as a paraneoplastic manifestation of cholangiocarcinoma: A case report.

BACKGROUND: Sweet's syndrome, also known as acute febrile neutrophilic dermatosis, is a rare skin disorder that may be associated with cancer. CASE SUMMARY: A 58-year-old female presented with a cholestatic syndrome and significant weight loss three months before admission. Five months earlier, she had abruptly developed skin lesions with erythematous papules that evolved to erythematous blisters. Clinical evaluation and laboratory tests confirmed hepatic cholangiocarcinoma. Skin lesions histopathological findings showed neutrophilic dermatosis, massive edema, fibrin, necrosis, and elastosis. These results, in association with the macroscopic aspects of the findings, led to the diagnosis of paraneoplastic Sweet's syndrome due to cholangiocarcinoma. As staging was consistent with an advanced tumor without a cure perspective, we opted to perform percutaneous biliary drainage, and subsequently, palliative care. Eventually, after a few weeks, the patient died. CONCLUSION: In conclusion, the diagnosis of the underlying disease-causing Sweet's syndrome must be accurate, and patients need to be followed-up, as neoplasia such as cholangiocarcinoma may be a later manifestation.

Type 2 leprosy reaction resembling Sweet syndrome: Review of new and published cases.

A leprosy reaction resembling Sweet syndrome was first described in 1987. This cutaneous manifestation can be classified as the type 2 reaction which arises from antigen-antibody interaction. It can occur in patients with diagnosed or undiagnosed leprosy, and men with borderline leprosy tend to exhibit this type of reaction. Triggering factors may include WHO multibacillary treatment or prescription antibiotics. Several reports of this clinical phenomenon have been published, making physicians consider it as part of this spectrum of the disease. Treatment regime can include systemic steroids and thalidomide.

Dermatosis neutrofílica de las manos y rostro posterior a mordedura de perro: reporte de caso y revisión de la literatura / Neutrophilic dermatosis of the hands and face after dog bite: case report and literature review

La Dermatosis neutrofílica de las manos es consi-derada una variante localizada acral del Síndrome de Sweet, más frecuente en mujeres y principal-mente asociada a enfermedades hematológicas. Las lesiones aparecen como pápulas, vesículas, nó-dulos, placas, úlceras y ampollas, principalmente en el dorso de las manos. Aproximadamente la mi-tad de los pacientes presenta fenómeno de patergia como factor desencadenante.En el presente caso clínico se describe una derma-tosis neutrofílica de las manos posterior a morde-dura de perro, asociado a mielofibrosis primaria y desarrollo de lesiones faciales.

Neutrophilic dermatosis of the hands is conside-red an acral localized variant of Sweet Syndrome, more frequent in women and mainly associated with hematological diseases. The lesions appear as papules, vesicles, nodules, plaques, ulcers, and blisters, mainly on the back of the hands. Appro-ximately half of the patients present a phenome-non of pathergy as a triggering factor. Herein we describe a case of neutrophilic dermatosis of the hands after a dog bite, associated with primary myelofibrosis and development of facial lesions.

Síndrome de Sweet en una niña preescolar / Sweet syndrome in a 5-year-old girl

El síndrome de Sweet, también conocido como dermatosis neutrofílica febril, es un trastorno dermatológico poco frecuente en pediatría. Clínicamente, se caracteriza por la aparición de lesiones papulares y/o nodulares de una coloración rojiza-violeta con hipersensibilidad local. Se reporta el caso de una paciente femenina de 5 años, quien consultó por un cuadro clínico de 10 días de evolución de aparición de lesión forunculosa en el arco nasal. Se realizó una biopsia de piel, que reportó dermatitis difusa con predominio de polimorfonucleares neutrófilos, necrosis epidérmica y ausencia de vasculitis. No se identificaron microorganismos. Se consideró el cuadro compatible con síndrome de Sweet. Es importante tener en cuenta este diagnóstico en cuadros clínicos similares y se deben descartar otros diagnósticos más frecuentes primero.

Sweet syndrome, also known as acute febrile neutrophilic dermatosis, is an infrequent dermatological disorder in pediatrics. Clinically it is characterized by the development of papular and/or nodular lesions of a reddish-violet coloration with local hypersensitivity. We report the case of a 5-year-old female who consulted 1 month after the appearance of the lesion in the nasal arch. A skin biopsy was performed and it reported diffuse dermatitis with a predominance of neutrophil polymorphonuclear cells, epidermal necrosis and absence of vasculitis. No microorganisms were identified. It was considered compatible with Sweet syndrome. It is important to consider this diagnosis in similar clinical cases and other more frequent diagnoses must be ruled out first.