RESUMO
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) is a recently described genetic disorder that gathers autoinflammatory symptoms and myeloid dysplasia. The first description was reported in 2020, and subsequently, a growing number of cases have been described worldwide. Herein, we describe a case of a 72-year-old male patient with VEXAS syndrome with p.Met41Val mutation of the UBA1 gene, prominent supraglottic larynx involvement, and costochondritis. To our knowledge, this is the first report of VEXAS syndrome in Colombia and South America. This disease could present features of relapsing polychondritis, polyarteritis nodosa, giant cell arteritis, and Sweet syndrome, associated with hematologic involvement, including cytopenias, myelodysplastic syndrome, or thromboembolic disease. Supraglottic larynx chondritis and costochondritis are atypical manifestations. These features were proposed previously to differentiate relapsing polychondritis from VEXAS syndrome but are not entirely reliable like in the case described. A diagnosis of VEXAS should be considered in male patients with incomplete or complete features of the previously described conditions, refractory to treatment, requiring high-dose glucocorticoids, and associated progressive hematologic abnormalities. Key Points ⢠VEXAS syndrome is a recently described genetic (somatic mutations in UBA1 gene) disorder that gathers autoinflammatory and hematologic manifestations. ⢠VEXAS syndrome should be considered in male patients with incomplete or complete features of relapsing polychondritis, polyarteritis nodosa, giant cell arteritis, and Sweet syndrome, refractory to treatment, associated with hematologic involvement, including cytopenias, myelodysplastic syndrome, or thromboembolic disease. ⢠Glucocorticoids ameliorate symptoms effectively. However, other treatment options are limited due to a lack of evidence. Traditional immunosuppressants and biological therapy have been used empirically with limited efficacy and a transient effect. Bone marrow transplant offers a curative approach, but it has high morbidity and mortality.
Assuntos
Arterite de Células Gigantes , Laringe , Síndromes Mielodisplásicas , Poliarterite Nodosa , Policondrite Recidivante , Síndrome de Sweet , Idoso , Arterite de Células Gigantes/complicações , Arterite de Células Gigantes/diagnóstico , Arterite de Células Gigantes/genética , Humanos , Imunossupressores/uso terapêutico , Masculino , Síndromes Mielodisplásicas/complicações , Policondrite Recidivante/complicações , Policondrite Recidivante/diagnóstico , Policondrite Recidivante/genética , Síndrome de Sweet/complicações , VacúolosRESUMO
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.
Assuntos
Humanos , Feminino , Adulto , Adulto Jovem , Sífilis , Síndrome de Sweet/complicações , Síndrome de Sweet/diagnóstico , Pele , Febre , GranulomaRESUMO
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.
Assuntos
Síndrome de Sweet , Sífilis , Adulto , Feminino , Febre , Granuloma , Humanos , Pele , Síndrome de Sweet/complicações , Síndrome de Sweet/diagnóstico , Adulto JovemAssuntos
Colite Ulcerativa/patologia , Síndrome de Sweet/patologia , Adalimumab/uso terapêutico , Antirreumáticos/uso terapêutico , Azatioprina/uso terapêutico , Criança , Colite Ulcerativa/complicações , Colite Ulcerativa/tratamento farmacológico , Colonoscopia , Substituição de Medicamentos , Feminino , Glucocorticoides/uso terapêutico , Humanos , Síndrome de Sweet/complicações , Síndrome de Sweet/tratamento farmacológicoRESUMO
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.
Assuntos
Hansenostáticos/uso terapêutico , Hanseníase/diagnóstico , Síndrome de Sweet/diagnóstico , Antibacterianos/uso terapêutico , Humanos , Hanseníase/complicações , Hanseníase/tratamento farmacológico , Masculino , Síndrome de Sweet/complicações , Síndrome de Sweet/tratamento farmacológico , Talidomida/uso terapêuticoRESUMO
Abstract: Neutrophilic dermatosis of the dorsal hands is considered a rare and localized variant of Sweet's syndrome. Although the etiology is unknown, there are reports of association with infections, neoplasias, autoimmune diseases and medications. Histopathology shows a dense neutrophilic inflammatory infiltrate in the dermis. Treatment is based on the administration of systemic corticosteroids; however, a combination of medications is useful, given the frequency of relapses. The authors report a classic and clinically exuberant case of neutrophilic dermatosis of the dorsal hands, with excellent response to oral dapsone treatment, and offer a brief literature review.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Síndrome de Sweet/tratamento farmacológico , Dapsona/uso terapêutico , Dermatoses da Mão/tratamento farmacológico , Anti-Infecciosos/uso terapêutico , Síndrome de Sweet/complicações , Dermatoses da Mão/etiologiaRESUMO
Sweet's syndrome is a rare dermatosis with little-known pathogenesis, associated with some clinical conditions such as infections, autoimmune diseases, inflammatory bowel diseases, vaccination, medications and neoplasms. Hematologic malignancies are the diseases most related to paraneoplastic Sweet's syndrome, but this clinical entity can also be found occasionally in some solid tumors, including genitourinary tract tumors. We report a rare case of paraneoplastic Sweet's syndrome associated with the diagnosis of cervical cancer.
Assuntos
Síndromes Paraneoplásicas/patologia , Síndrome de Sweet/patologia , Neoplasias do Colo do Útero/patologia , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Síndromes Paraneoplásicas/complicações , Síndrome de Sweet/complicações , Neoplasias do Colo do Útero/complicaçõesRESUMO
Neutrophilic dermatosis of the dorsal hands is considered a rare and localized variant of Sweet's syndrome. Although the etiology is unknown, there are reports of association with infections, neoplasias, autoimmune diseases and medications. Histopathology shows a dense neutrophilic inflammatory infiltrate in the dermis. Treatment is based on the administration of systemic corticosteroids; however, a combination of medications is useful, given the frequency of relapses. The authors report a classic and clinically exuberant case of neutrophilic dermatosis of the dorsal hands, with excellent response to oral dapsone treatment, and offer a brief literature review.
Assuntos
Anti-Infecciosos/uso terapêutico , Dapsona/uso terapêutico , Dermatoses da Mão/tratamento farmacológico , Síndrome de Sweet/tratamento farmacológico , Feminino , Dermatoses da Mão/etiologia , Humanos , Pessoa de Meia-Idade , Síndrome de Sweet/complicaçõesRESUMO
Abstract: Sweet's syndrome is a rare dermatosis with little-known pathogenesis, associated with some clinical conditions such as infections, autoimmune diseases, inflammatory bowel diseases, vaccination, medications and neoplasms. Hematologic malignancies are the diseases most related to paraneoplastic Sweet's syndrome, but this clinical entity can also be found occasionally in some solid tumors, including genitourinary tract tumors. We report a rare case of paraneoplastic Sweet's syndrome associated with the diagnosis of cervical cancer.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Síndromes Paraneoplásicas/patologia , Neoplasias do Colo do Útero/patologia , Síndrome de Sweet/patologia , Síndromes Paraneoplásicas/complicações , Neoplasias do Colo do Útero/complicações , Síndrome de Sweet/complicações , Diagnóstico Diferencial , Recidiva Local de NeoplasiaRESUMO
Sweet syndrome was discovered in 1964 and is now well described in the dermatology literature. Knowledge of this unique febrile and painful dermatosis is important for the emergency physician because the syndrome can be readily identified and is extremely responsive to oral steroid therapy. Early diagnosis can greatly improve patient satisfaction and avoid days of ineffective treatment. An accurate and timely diagnosis of Sweet syndrome is also important to guide investigation into a number of associated diseases.