RESUMO
Introduction: Erdheim-Chester Disease (ECD) is a rare form of histiocytosis, characterized by xanthogranulomatous infiltration of multiple organs by lipid-laden histiocytes. It is considered a myeloid inflammatory clonal disorder that mainly affects men with a mean age of 55 years. Methods: We present the case of a 65-year-old man who consulted our Endocrinology Unit because of polyuria and polydipsia of 4 months of evolution, diagnosing central diabetes insipidus associated with pituitary infiltration. Physical examination showed skin lesions he has had for several years, that were papules-nodules in the anterior chest and xantelasma-like in the face and neck, with biopsy compatible with non-Langerhans histiocytosis. The genetic study of the skin biopsy showed the presence of a mutation in MAP2K1, confirming the ECD. Results: The patient started treatment with interferon alfa, but the response was incomplete and associated with severe intolerance, so given the findings of the genetic study, we decided to indicate treatment with cobimetinib, a potent and selective inhibitor of MEK. After 8 months of treatment, skin lesions have disappeared, as has the pituitary infiltration, with a remarkable improvement in his quality of life. Conclusions: We present a 65-year-old patient with a rare form of histiocytosis (ECD) who in turn presented an atypical form of ECD and, where the genetic study allowed us to confirm the diagnosis and use targeted therapy with cobimetinib with outstanding results.
Introducción: La Enfermedad de Erdheim-Chester (ECD) es una rara forma de histiocitosis, caracterizada por la infiltración xantogranulomatosa de múltiples órganos por histiocitos cargados de lípidos. Se la considera un trastorno clonal inflamatorio mieloide que afecta principalmente a hombres con una edad media de 55 años. Métodos: Presentamos el caso de un hombre de 65 años que consultó a nuestro Servicio de Endocrinología por poliuria y polidipsia de 4 meses de evolución diagnosticándose diabetes insípida central asociada a infiltración hipofisaria. El paciente presentaba lesiones cutáneas pápulo-nodulares en tórax y xantelasma-símiles en cuello y cara de varios años de evolución, con biopsia compatible con histiocitosis no-Langerhans. El estudio genético de la biopsia cutánea detectó la mutación MAP2K1 confirmando la ECD. Resultados: El paciente inició tratamiento con interferón alfa con respuesta incompleta y mala tolerancia por lo que cambiamos el tratamiento a un inhibidor potente y selectivo de MEK, el cobimetinib. Tras 8 meses de tratamiento presenta desaparición de lesiones cutáneas y de la infiltración hipofisaria con notable mejoría de su calidad de vida. Conclusión: Presentamos el caso de un paciente adulto con una forma rara de histiocitosis (ECD) que a su vez presentó una forma atípica de ECD y, donde el estudio genético nos permitió confirmar el diagnóstico e introducir una terapia dirigida con cobimetinib con excelentes resultados.
Assuntos
Doença de Erdheim-Chester , Idoso , Azetidinas , Biópsia , Doença de Erdheim-Chester/tratamento farmacológico , Doença de Erdheim-Chester/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Piperidinas , Qualidade de VidaRESUMO
Las neoplasias de la lengua son los tumores más comunes de la cavidad bucal y la mayoría pertenecen a carcinomas de células escamosas. Presentamos dos casos de carcinomas de la lengua, correspondientes a un carcinoma escamoso moderadamente diferenciado y un carcinoma verrugoso, en mujeres de mediana edad con factores de riesgo oncogénicos. Estos tumores pueden tener diversos grados de diferenciación, los cuales determinan su pronóstico y tratamiento.
Tongue neoplasms are the most common in the oral cavity, and the majority correspond to squamous cell carcinomas. We present two cases of tongue carcinomas, corresponding to moderately differentiated squamous cell carcinoma and verrucous carcinoma, in middle-aged women with oncogenic risk factors.These tumors can have various degrees of differentiation, which determine their prognosis and treatment.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Carcinoma de Células Escamosas de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço , Neoplasias da Língua , Metotrexato/administração & dosagem , Ciclosporina , Ácido Fólico/administração & dosagem , Carcinoma de Células Escamosas de Cabeça e Pescoço/tratamento farmacológico , Carcinoma de Células Escamosas de Cabeça e Pescoço/radioterapiaRESUMO
El granuloma anular maculoso es una variante rara de granuloma anular, que representa un desafío diagnóstico. Su incidencia se desconoce y se presenta con mayor frecuencia en las mujeres de entre 40 y 70 años. Se asocia a las mismas entidades y responde a los mismos tratamientos que las otras variantes clínicas de granuloma anular. Se presentan los casos de 5 mujeres con diagnóstico de granuloma anular maculoso, que recibieron diferentes tratamientos tópicos y sistémicos, con respuestas clínicas variables.
Patch-type granuloma annulare is a rare variant of granuloma annulare, thus which represents diagnostic challenge. It has an unknown incidence and occurs most often in women between 40 and 70 years of age. It presents similar associations and responds to treatment as the clinical variants. We present 5 emale patients with patch-type granuloma annulare, who received different topical and systemic treatments, with variable clinical responses.
Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Granuloma Anular/diagnóstico , Fototerapia , Granuloma Anular/patologia , Granuloma Anular/tratamento farmacológico , Octogenários , NonagenáriosRESUMO
La elastolisis de la dermis media (EDM) es una afección rara y adquirida del tejido elástico, caracterizada histológicamente por la disminución o ausencia de fibras elásticas en la porción media de la dermis. Afecta con mayor frecuencia a mujeres jóvenes, es asintomática y no se acompaña de compromiso extra cutáneo. Se presenta el caso de una paciente con finas arrugas en piel de ambas axilas y región lumbar.
Mid-dermal elastolysis is a rare and acquired elastic tissue disorder histologically manifested by a loss or lack of elastic fibers in mid-dermal skin part. This disease predominantly affects young females showing asymptomatic features and no extracutaneous elastic tissue involvement. We report a case of a female patient showing fine wrinkling of the skin in both axillae and lumbar area.
Assuntos
Humanos , Feminino , Adulto , Pele , Dermatopatias , Mulheres , Doença , Derme/patologia , Tecido ElásticoRESUMO
Las metástasis cutáneas se producen por la infiltración en piel de células originados en un tumor maligno situado a distancia generando implicancias pronósticas y terapéuticas. Se conoce que las metástasis cutáneas de paragangliomas son poco frecuentes, presentan manifestaciones clínicas variadas, pero son histopatológicamente reconocibles por un patrón anidado en Zellballen y una inmunohistoquímica específica del linaje celular. Presentamos el caso de una paciente con enfermedad de Von Hippel Lindau (VHL) con paraganglioma metastásico cutáneo, con respuesta clínica a distintos esquemas de quimioterapia. (AU)
Cutaneous metastases are produced by the proliferation of cells from a malignant tumor located at a distance, having prognostic and therapeutic implications. Cutaneous metastases of paragangliomas are a rare entity, which present varied clinical manifestations, histopathology with a Zellballen pattern and a specific immunohistochemistry that helps define the tumor lineage. We present the case of a patient with Von Hippel Lindau disease with cutaneous metastatic paraganglioma and good clinical response to chemotherapy. (AU)
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Paraganglioma/tratamento farmacológico , Pele , Doença de von Hippel-Lindau/complicações , Metástase Neoplásica/diagnóstico , Neoplasias , Infiltração-Percolação , Tratamento Farmacológico , Irinotecano/uso terapêuticoRESUMO
El liquen escleroso es una enfermedad inflamatoria mucocutánea crónica, de etiología desconocida, que afecta principalmente las áreas anogenitales.Habitualmente se presenta con placas blancas escleróticas, acompañadas de sequedad de la mucosa, prurito intenso y persistente, que conduce a la atrofia progresiva e impotencia funcional. Presentamos dos hermanas con liquen escleroso vulvar de difícil manejo, que respondieron con éxito al tratamiento con tacrolimus ungüento al 0,1%...
Assuntos
Humanos , Líquen Escleroso Vulvar , Tacrolimo , Terapêutica , VulvaRESUMO
Barrett's esophagus (BE), consequence of chronic gastroesophageal reflux disease (GERD), is a premalignant condition, capable of turning into adenocarcinoma (ACa). However, the presence ofsquamous cell carcinoma (SCa) coexisting with Barrett's metaplasia is reported in some papers. The aim of this paper is to present 17 patients involving synchronous BE and SCa.
Assuntos
Esôfago de Barrett/complicações , Carcinoma de Células Escamosas/complicações , Neoplasias Esofágicas/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Esôfago de Barrett/patologia , Carcinoma de Células Escamosas/patologia , Neoplasias Esofágicas/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
El nevo lipomatoso cutáneo superficial (NLCS) es una anomalía del desarrollo infrecuente, caracterizada por la presencia de tejido adiposo maduro ectópico en la dermis. Puede estar presente al nacer o aparecer en la infancia o adolescencia. Describimos dos casos de NLCS: el primero, un niño de 4 años con una placa hipertricótica en la nalga izquierda, presente desde el nacimiento y el segundo, una niña de 9 años con una placa de aspecto esclerodermiforme en el muslo izquierdo, de aparición en etapa preescolar.
Nevus lipomatosus cutaneous superficialis (NLCS) is a rare developmental anomally characterized by the presence of ectopic mature adipose tissue in the dermis. It may be present at birth, or appear at chilhood or adolescence. We describe two cases of NLCS: the firs one, a 4-year-old child that presented with an hypertrychotic plaque on his left buttock, present from birth and, the second one, a 9-year-old girl with a plaque of sclerodermiform appearance on her left leg, that arise before school time.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Hamartoma , Nevo Intradérmico , Diagnóstico Diferencial , Lipoma , Coxa da Perna/anormalidades , Nádegas/patologiaRESUMO
The rising incidence of adenocarcinoma in Barrett's esophagus has intensified the research into methods of early recognition of cancer risk, detecting cytological and architectural changes (dysplasia) or using biomarkers as predictive tests. The aim of this paper is to evaluate the involvement of two tumor markers: p53 (tumor suppressor gene) and Ki67 (proliferation marker), by means of immunohistochemical analysis with monoclonal antibodies designed for the specific localization of p53 and Ki67 antigens, in esophageal biopsies with columnar metaplasia of patients with and without dysplasia and adenocarcinoma, and to anticipate which ones are liable to suffer it in the future. Both markers were positive in all intestinal metaplasia patients with high-grade dysplasia and adenocarcinoma, and even in some cases with low grade or without dysplasia. In contrast, in those who have gastric metaplasia, tumor markers were negative. Expression of biomarkers next to dysplasia reduces interobserver variation. Patients with these abnormalities have to be included into a surveillance protocol.
Assuntos
Adenocarcinoma/patologia , Esôfago de Barrett/patologia , Biomarcadores Tumorais/análise , Neoplasias Esofágicas/patologia , Antígeno Ki-67/análise , Lesões Pré-Cancerosas/patologia , Proteína Supressora de Tumor p53/análise , Adenocarcinoma/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Esôfago de Barrett/metabolismo , Neoplasias Esofágicas/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Lesões Pré-Cancerosas/metabolismo , Valor Preditivo dos Testes , Estudos Retrospectivos , Medição de Risco , Adulto JovemRESUMO
Biodegradable injectable bulking agents of animal origin present a fast rate of bio-reabsorption and may cause an allergic reaction. Biodegradable elements of synthetic origin have a high rate of reabsorption after a year. Non-biodegradable agents of synthetic origin lead to the formation of a fibrotic capsule, giving stability and long-term permanence. VANTRIS is categorized into this last group; it belongs to the family of Acrylics, particles of polyacrylate polyalcohol copolymer immersed in a glycerol and physiological solution carrier. Molecular mass is very high. When injected in soft tissues, this material causes a bulkiness that remains stable through time. The carrier is a 40% glycerol solution with a pH of 6. Once injected, the carrier is eliminated by the reticular system through the kidneys, without metabolizing. Particles of this polyacrylate polyalcohol with glycerol are highly deformable by compression, and may be injected using a 23-gauge needle. The average of particles size is 320 mm. Once implanted, particles are covered by a fibrotic capsule of up to 70 microns. Particles of this new material are anionic with high superficial electronegativity, thus promoting a low cellular interaction and low fibrotic growth. The new polyacrylate polyalcohol copolymer with glycerol was tested for biocompatibility according to ISO 10993-1:2003 in vitro, showing that they are not mutagenic for the Salmonella T. strains analyzed. The extract turned out to be non-cytotoxic for cell lines in culture and non-genotoxic for mice. In in vivo studies, acrylate did not cause sensitization in mice. The macroscopic reaction of tissue irritation was not significant in subcutaneous implants and in urethras of rabbits. Seven female dogs were injected transurethrally with VANTRIS to evaluate short and long-term migration (13 weeks and 12 months respectively). No particles or signs of inflammation or necrosis are observed in any of the organs examined 13 weeks and 12 months after implantation. To conclude, this new material meets the conditions of ideal tissue bulking material.
Assuntos
Resinas Acrílicas/efeitos adversos , Materiais Biocompatíveis/efeitos adversos , Migração de Corpo Estranho/etiologia , Animais , Materiais Biocompatíveis/administração & dosagem , Cães , Feminino , Migração de Corpo Estranho/patologia , InjeçõesRESUMO
Biodegradable injectable bulking agents of animal origin present a fast rate of bio-reabsorption and may cause an allergic reaction. Biodegradable elements of synthetic origin have a high rate of reabsorption after a year. Non-biodegradable agents of synthetic origin lead to the formation of a fibrotic capsule, giving stability and long-term permanence. VANTRIS® is categorized into this last group; it belongs to the family of Acrylics, particles of polyacrylate polyalcohol copolymer immersed in a glycerol and physiological solution carrier. Molecular mass is very high. When injected in soft tissues, this material causes a bulkiness that remains stable through time. The carrier is a 40% glycerol solution with a pH of 6. Once injected, the carrier is eliminated by the reticular system through the kidneys, without metabolizing. Particles of this polyacrylate polyalcohol with glycerol are highly deformable by compression, and may be injected using a 23-gauge needle. The average of particles size is 320 mm. Once implanted, particles are covered by a fibrotic capsule of up to 70 microns. Particles of this new material are anionic with high superficial electronegativity, thus promoting a low cellular interaction and low fibrotic growth. The new polyacrylate polyalcohol copolymer with glycerol was tested for biocompatibility according to ISO 10993-1:2003 in vitro, showing that they are not mutagenic for the Salmonella T. strains analyzed. The extract turned out to be non-cytotoxic for cell lines in culture and non-genotoxic for mice. In in vivo studies, acrylate did not cause sensitization in mice. The macroscopic reaction of tissue irritation was not significant in subcutaneous implants and in urethras of rabbits. Seven female dogs were injected transurethrally with VANTRIS® to evaluate short and long-term migration (13 weeks and 12 months respectively). No particles or signs of inflammation or necrosis are observed in any of the organs examined 13 weeks and 12 months after implantation. To conclude, this new material meets the conditions of ideal tissue bulking material (AU)
Los agentes inyectables biodegradables de origen animal presentan una tasa rápida de bioreabsorción y pueden provocar reacciones alérgicas. Los elementos biodegradables de origen sintético tienen una alta tasa de reabsorción después de un año. Los agentes no-biodegradables de origen sintético dan lugar a la formación de una cápsula fibrótica, dando estabilidad y permanencia a largo plazo. VANTRIS® se clasifica en este último grupo; pertenece a la familia de los acrílicos, partículas de copolímero poliacrida polialcohol inmersas en una solución vehiculante de glicerol y fisiológico. Su masa molecular es muy alta. Cuando se inyecta en tejidos blandos, este material produce un abultamiento que permanece estable a lo largo del tiempo. El vehículo contiene un 40% de solución de glicerol con un pH de 6. Una vez inyectada, el vehículo es eliminado por el sistema reticular a través de los riñones, sin metabólizar. Las partículas de este poliacrilato polialcohol con glicerol son altamente deformables por compresión, y pueden inyectarse utilizando una aguja del 23 Gauge. El tamaño medio de las partículas es de 320 mm. Una vez implantadas, las partículas se recubren de una cápsula fibrótica de hasta 70 micrones. Las partículas de este nuevo material son aniónicas y tienen una gran electronegatividad en superficie, promoviendo así una baja interacción celular y un bajo crecimiento fibrótico. El nuevo copolímero de poliacrilato polialcohol con glicerol fue sometido a pruebas de biocompatibilidad in vitro de acuerdo con la normal ISO 10993-1:2003, mostrando que no es mutagénico para las cepas de salmonela T. analizadas. El extracto no fue citotóxico en cultivos de líneas celulares ni en ratones. En los estudios in vivo, el acrilato no produjo sensibilización en ratones. Los implantes subcutáneos y en uretra de conejos no produjeron reacción de irritación tisular macroscópica significativa. Para evaluar la migración a corto y largo plazo se inyectó Vantris® por vía transuretral en siete hembras de perro (13 semanas y 12 meses respectivamente). No se observaron partículas o signos de inflamación con necrosis en ninguno de los órganos examinados ni a las 13 semanas ni a las 12 meses del implante. En conclusión, este nuevo material cumple con las condiciones del material inyectable tisular ideal
Assuntos
Animais , Cães , Camundongos , Coelhos , Feminino , Implantes Absorvíveis , Copolímero de Pirano/uso terapêutico , Glicerol/uso terapêutico , Endoscopia/métodos , Incontinência Urinária/complicações , Incontinência Urinária/diagnóstico , Cistoscopia/métodos , Cistoscopia/tendências , Uretra/patologia , Uretra/fisiopatologia , Uretra , Necrose , Fibrose/complicações , Fibrose/diagnósticoRESUMO
Immunodepressed patients in the intermediate phase of Chagas' disease may undergo reactivation of the disease together with atypical symptoms. The case of an immunodepressed kidney transplant patient with reactivation of Chagas' disease with skin symptoms is reported. A 65-year-old man presented with infiltrated erythematous lesions on the anterior aspect of the right thigh of 2 weeks' duration. The lesions later extended to the abdomen, thorax, and lower limbs. In the histologic skin examination, amastigotes and Trypanosoma cruzi trypoamastigotes were observed. A fresh smear showed positive parasitemia. Using the Strout hemoconcentration method, multiple Trypanosoma cruzi trypoamastigotes with motility could be seen. Polymerase chain reaction was positive for Trypanosoma cruzi. An immunofluorescence test was positive (1 : 64) and there was hemoagglutination (1 : 32). Treatment was started with benznidazole, 7 mg/kg/day. The patient did not evolve favorably and died 20 days after hospitalization. Skin lesions may be a manifestation of the reactivation of Chagas' disease in immunosuppressed patients. All patients with positive Chagas' serology who require immunosuppressant drugs should receive specific treatment for Chagas' disease.
Assuntos
Doença de Chagas/etiologia , Terapia de Imunossupressão/efeitos adversos , Transplante de Rim/efeitos adversos , Infecções Oportunistas/etiologia , Dermatopatias Parasitárias/etiologia , Trypanosoma cruzi/isolamento & purificação , Idoso , Animais , Doença de Chagas/patologia , Evolução Fatal , Humanos , Hospedeiro Imunocomprometido , Masculino , Recidiva , Dermatopatias Parasitárias/patologiaRESUMO
BACKGROUND: Leishmaniasis is a disease produced by several species of protozoa of the Leishmania genus. These protozoa are injected into the human bloodstream by sandflies. The symptomathology, either cutaneous, mucocutaneous or visceral, depends on the infective species and the immune status of the patient. Antimonial drugs are the mainstay treatment for all the clinical forms of the disease. Amphotericin B is the second-choice drug. METHODS: We report two clinical cases of cutaneous leishmaniasis treated with itraconazole. One case was a relapsing form unresponsive to conventional therapy. RESULTS: Both patients achieved fast resolution of their lesions with no secondary effects. CONCLUSIONS: Itraconazole may be a valid option for the treatment of cutaneous leishmaniasis, mainly in those cases unresponsive to conventional drugs.
Assuntos
Antiprotozoários/uso terapêutico , Itraconazol/uso terapêutico , Leishmaniose Cutânea/diagnóstico , Leishmaniose Cutânea/tratamento farmacológico , Administração Oral , Animais , Relação Dose-Resposta a Droga , Esquema de Medicação , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Se describen tres casos de necrosis grasa subcutánea del recién nacido, en niños de adecuada edad gestacional, de término, que sufrieron cesárea o parto traumático. Entre la primera y tercera semana de vida fueron observados nódulos o placas subcutáneos rojovioláceos. Las biopsias de las lesiones mostraron necrosis subcutánea, con adipocitos que contenían cristales en forma de espículas con infiltrados inflamatorios reactivos. Un caso presentó trombocitopenia periférica transitoria. Deben hacerse determinaciones séricas seriadas de calcio y plaquetas en estos pacientes y deben ser observados cuidadosamente signos y síntomas de hipercalcemia o trombocitopenia. A pesar del cuadro alarmante, el pronóstico siempre es favorable (AU)
Assuntos
Masculino , Humanos , Feminino , Recém-Nascido , Necrose Gordurosa/etiologia , Doenças do Recém-Nascido/patologia , Necrose Gordurosa/patologia , Necrose Gordurosa/complicaçõesRESUMO
Se describen tres casos de necrosis grasa subcutánea del recién nacido, en niños de adecuada edad gestacional, de término, que sufrieron cesárea o parto traumático. Entre la primera y tercera semana de vida fueron observados nódulos o placas subcutáneos rojovioláceos. Las biopsias de las lesiones mostraron necrosis subcutánea, con adipocitos que contenían cristales en forma de espículas con infiltrados inflamatorios reactivos. Un caso presentó trombocitopenia periférica transitoria. Deben hacerse determinaciones séricas seriadas de calcio y plaquetas en estos pacientes y deben ser observados cuidadosamente signos y síntomas de hipercalcemia o trombocitopenia. A pesar del cuadro alarmante, el pronóstico siempre es favorable
Assuntos
Masculino , Humanos , Feminino , Recém-Nascido , Necrose Gordurosa , Doenças do Recém-Nascido/patologia , Necrose GordurosaRESUMO
Se presenta un paciente en quien las únicas manifestaciones de lupus eritematoso profundo se encontraron localizadas en la piel de la región mamaria y zona intermamaria. Debido a la baja frecuencia de dicha patología con esta localización peculiar nos abocamos a una revisión
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Mama/patologia , Paniculite de Lúpus Eritematoso/diagnóstico , Lúpus Eritematoso Sistêmico/diagnósticoRESUMO
Se presenta un paciente en quien las únicas manifestaciones de lupus eritematoso profundo se encontraron localizadas en la piel de la región mamaria y zona intermamaria. Debido a la baja frecuencia de dicha patología con esta localización peculiar nos abocamos a una revisión (AU)
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Paniculite de Lúpus Eritematoso/diagnóstico , Mama/patologia , Lúpus Eritematoso Sistêmico/diagnósticoRESUMO
Se presenta el caso de un paciente de sexo masculino, de un mes y medio de edad, con anemia hemolítica microangiopática y coagulopatía de consumo asociada a un hemangioma de rápido crecimiento (síndrome de Kasabach-Merritt). Se realiza una actualización diagnóstica y terapéutica de esta patología considerada de diferentes formas por otros autores (AU)