RESUMEN
Necrobiotic xanthogranuloma is a condition that was first identified in 1980 based on its characteristic histological identity, and it has been known since then as a dermatologic manifestation of an underlying systemic dysproteinemia. Intracranial manifestation is a rare presentation of this condition and has been reported only once in its more than 40 years of existence. Herein and to our knowledge, we report the second observation of an intracranial manifestation and, surprisingly, the first case without the expected dermatologic and systemic dysproteinemia associations. This case identifies an existing knowledge gap in our understanding of necrobiotic xanthogranuloma and emphasises the need for further research into understanding the presentation, comorbidities and management of this condition.
Asunto(s)
Xantogranuloma Necrobiótico , Humanos , Xantogranuloma Necrobiótico/complicaciones , Xantogranuloma Necrobiótico/diagnósticoRESUMEN
Necrobiotic xanthogranuloma (NXG) is a progressive non-Langerhans cell histiocytosis with a predilection for the periorbital area. NXG is most commonly associated with monoclonal gammopathy and ophthalmic complications. The authors present a 69-year-old man who was evaluated for a left upper eyelid nodule and plaques on the lower extremities, trunk, abdomen, and right upper extremity. Biopsy of the eyelid was supportive for NXG. Serum protein electrophoresis was positive for a monoclonal gammopathy, IgG light chain kappa. MRI showed preseptal involvement. The periocular nodules cleared with a high dose of prednisone; however, the other skin lesions persisted. Bone marrow biopsy showed kappa-restricted 6% plasma cells and he was treated with intravenous immunoglobulin. This case illustrates the importance of clinicopathologic correlations to render an NXG diagnosis.
Asunto(s)
Xantogranuloma Necrobiótico , Paraproteinemias , Masculino , Humanos , Anciano , Xantogranuloma Necrobiótico/complicaciones , Xantogranuloma Necrobiótico/diagnóstico , Xantogranuloma Necrobiótico/tratamiento farmacológico , Paraproteinemias/complicaciones , Paraproteinemias/diagnóstico , Párpados/patología , Células Plasmáticas/patología , CaraAsunto(s)
Xantogranuloma Necrobiótico , Paraproteinemias , Fluorodesoxiglucosa F18 , Humanos , Xantogranuloma Necrobiótico/complicaciones , Xantogranuloma Necrobiótico/diagnóstico por imagen , Paraproteinemias/complicaciones , Paraproteinemias/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Tomografía de Emisión de PositronesRESUMEN
Necrobiotic xanthogranuloma (NXG) is a rare chronic condition, belonging to the group non-Langerhans cell histiocytoses, which is relevant due to the possibility of extracutaneous involvement and association with systemic diseases, particularly monoclonal gammopathy, MGUS and multiple myeloma. The case reported here NXG was diagnosed after 1 years of evolution in patient with asymptomatic multiple myeloma. After treatment with bortezomib, lenalidomid and dexamethasone, there was evident abrupt decrease of monoclonal immunoglobulin to not measurable level (complete remission of multiple myeloma) and in the same time was evident disappearance of cutaneous and hepatic lesions of NXG on FDG-PET/CT. The etiopathogenetic association of monoclonal immunoglobulin with NXG is documented in this case report with disappearance of NXG in the time of disappearance of monoclonal immunoglobulin.
Asunto(s)
Mieloma Múltiple , Xantogranuloma Necrobiótico , Bortezomib/uso terapéutico , Dexametasona/uso terapéutico , Humanos , Inmunoglobulinas , Mieloma Múltiple/complicaciones , Mieloma Múltiple/tratamiento farmacológico , Xantogranuloma Necrobiótico/complicaciones , Xantogranuloma Necrobiótico/diagnóstico , Xantogranuloma Necrobiótico/tratamiento farmacológico , Tomografía Computarizada por Tomografía de Emisión de PositronesAsunto(s)
Carcinoma de Células Escamosas/complicaciones , Neoplasias Pulmonares/complicaciones , Xantogranuloma Necrobiótico/complicaciones , Síndromes Paraneoplásicos , Polimiositis/complicaciones , Carcinoma de Células Escamosas/patología , Resultado Fatal , Humanos , Neoplasias Pulmonares/patología , Metástasis Linfática , Masculino , Persona de Mediana Edad , Xantogranuloma Necrobiótico/inmunología , Polimiositis/inmunologíaRESUMEN
Necrobiotic xanthogranuloma is a very rare disease with granulomatous lesions of the skin with possible association with paraproteinemia. We report two cases of orbital necrobiotic xanthogranuloma in patients with mono/biclonal gammopathy of undetermined significance. Both patients underwent successful conservative treatment.
Asunto(s)
Xantogranuloma Necrobiótico , Paraproteinemias , Humanos , Xantogranuloma Necrobiótico/complicaciones , Xantogranuloma Necrobiótico/diagnóstico , Paraproteinemias/complicaciones , Paraproteinemias/diagnósticoRESUMEN
Necrobiotic xanthogranuloma is a rare chronic condition, belonging to the group C non-Langerhans cell histiocytoses, which is relevant due to the possibility of extracutaneous involvement and association with systemic diseases, particularly hematologic malignancies. The case reported here was only diagnosed after nine years of evolution and was associated with plasma cell dyscrasia. After treatment with cyclophosphamide, dexamethasone, and thalidomide, there was a reduction of cutaneous lesions and serum levels of monoclonal protein.
Asunto(s)
Xantogranuloma Necrobiótico/tratamiento farmacológico , Mieloma Múltiple Quiescente/tratamiento farmacológico , Ciclofosfamida/uso terapéutico , Dexametasona/uso terapéutico , Femenino , Humanos , Inmunosupresores/uso terapéutico , Persona de Mediana Edad , Xantogranuloma Necrobiótico/complicaciones , Xantogranuloma Necrobiótico/patología , Mieloma Múltiple Quiescente/complicaciones , Mieloma Múltiple Quiescente/patología , Talidomida/uso terapéutico , Resultado del TratamientoRESUMEN
Abstract: Necrobiotic xanthogranuloma is a rare chronic condition, belonging to the group C non-Langerhans cell histiocytoses, which is relevant due to the possibility of extracutaneous involvement and association with systemic diseases, particularly hematologic malignancies. The case reported here was only diagnosed after nine years of evolution and was associated with plasma cell dyscrasia. After treatment with cyclophosphamide, dexamethasone, and thalidomide, there was a reduction of cutaneous lesions and serum levels of monoclonal protein.
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Xantogranuloma Necrobiótico/tratamiento farmacológico , Mieloma Múltiple Quiescente/tratamiento farmacológico , Talidomida/uso terapéutico , Dexametasona/uso terapéutico , Resultado del Tratamiento , Ciclofosfamida/uso terapéutico , Xantogranuloma Necrobiótico/complicaciones , Xantogranuloma Necrobiótico/patología , Mieloma Múltiple Quiescente/complicaciones , Mieloma Múltiple Quiescente/patología , Inmunosupresores/uso terapéuticoRESUMEN
Histiocytoses, including Langerhans cell histiocytosis (LCH), juvenile or adult xanthogranuloma (AXG) and Rosai-Dorfman disease (RDD), are rare disorders characterized by the proliferation of cells derived from monocyte/macrophage lineages. A few cases of LCH coexisting with xanthogranuloma or RDD have been reported. The etiology of these diseases remains unclear. However, oncogenic BRAFV 600E mutations have been identified in LCH. Here, we report the case of a 26-year-old Japanese man with a 3-month history of a solitary occipital nodule. No abnormality was detected in his other organs, and a total resection of the nodule was performed. Histopathological examination revealed the coexistence of LCH and AXG with prominent emperipolesis characteristic of RDD. Immunohistochemistry showed that most of the large histiocytes were positive for CD68, weakly positive or negative for S100, and negative for CD207 and CD1a, supporting the diagnosis of AXG. The tumor cells with emperipolesis did not show S100-positive findings characteristic of RDD. The focally aggregated oval histiocytic cells were positive for CD1a, CD207, CD68 and S100, and were compatible with the immunophenotype of LCH cells. In addition, these cells were positive for BRAFV 600E mutation. The tumor cells in our patient exhibited a cellular morphology characteristic of multiple histiocytoses in a solitary cutaneous nodule, which may imply an etiological association among LCH, AXG and RDD. To our knowledge, this is the first report of a BRAFV 600E mutation-positive case of LCH coexisting with AXG. Because patients with BRAFV 600E mutation have higher risks of multisystemic LCH and recurrence, we should carefully follow up the patient.
Asunto(s)
Histiocitosis de Células de Langerhans/diagnóstico , Células de Langerhans/patología , Xantogranuloma Necrobiótico/diagnóstico , Proteínas Proto-Oncogénicas B-raf/genética , Adulto , Histiocitosis de Células de Langerhans/complicaciones , Histiocitosis de Células de Langerhans/genética , Histiocitosis de Células de Langerhans/patología , Humanos , Masculino , Xantogranuloma Necrobiótico/complicaciones , Xantogranuloma Necrobiótico/genética , Xantogranuloma Necrobiótico/patologíaAsunto(s)
Humanos , Femenino , Adulto , Plexo Coroideo/diagnóstico por imagen , Neoplasias del Plexo Coroideo/diagnóstico por imagen , Xantogranuloma Necrobiótico/diagnóstico por imagen , Espectroscopía de Resonancia Magnética , Tomografía Computarizada por Rayos X , Trastornos Histiocíticos Malignos/diagnóstico por imagen , Xantogranuloma Necrobiótico/complicacionesRESUMEN
No disponible
Asunto(s)
Humanos , Masculino , Anciano , Xantogranuloma Necrobiótico/diagnóstico , Paraproteinemias/etiología , Gammopatía Monoclonal de Relevancia Indeterminada/diagnóstico , Pronóstico , Xantogranuloma Necrobiótico/patología , Paraproteinemias/patología , Xantogranuloma Necrobiótico/complicacionesRESUMEN
RATIONALE: IgG4-related disease (IgG4-RD) is an emerging immune-mediated disease characterized by multi-organ involvement and variable clinical behavior. PATIENT CONCERNS: We describe the case of a 50-year-old woman affected by a rare variant of IgG4-RD, characterized by eyelid xanthelasmas, adult-onset asthma and salivary and lacrimal glands enlargement. Multiple lymphadenopathies and a pulmonary mass were present at initial evaluation. INTEVENTIONS: After a single course of rituximab (2g in 2 refracted doses), an almost complete clinical remission was achieved without chronic steroid administration. OUTCOMES: Magnetic resonance imaging (MRI), high-resolution computed tomography (HRCT) of the thorax, and positron emission tomography (18FDG-PET-CT) confirmed good response to treatment. Circulating plasmablasts dropped to undetectable levels as well. Xanthelasmas only remained unchanged. Remission persisted at 1-year follow-up. LESSONS: Steroid therapy is still considered standard first-line therapy in IgG4-RD. However, high doses are generally required and relapses are common during the tapering phase. Rituximab is a well described steroid-sparing strategy, so far reserved to refractory cases only. In our experience, rituximab has been used as first-line monotherapy, showing great and sustained efficacy and optimal tolerability. The peculiar variant of IgG4-RD affecting our patient, the relatively low baseline plasmablast concentration, and the early placement of rituximab therapy may have facilitated the good response.
Asunto(s)
Asma/tratamiento farmacológico , Enfermedades Autoinmunes/tratamiento farmacológico , Factores Inmunológicos/uso terapéutico , Xantogranuloma Necrobiótico/tratamiento farmacológico , Rituximab/uso terapéutico , Adulto , Asma/complicaciones , Femenino , Glucocorticoides/uso terapéutico , Humanos , Inmunoglobulina G/sangre , Imagen por Resonancia Magnética , Persona de Mediana Edad , Xantogranuloma Necrobiótico/complicaciones , Células Plasmáticas , Tomografía Computarizada por Rayos XRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Xantogranuloma Necrobiótico/diagnóstico , Xantogranuloma Necrobiótico/tratamiento farmacológico , Paraproteinemias/diagnóstico , Biopsia , Xantogranuloma Necrobiótico/diagnóstico , Xantogranuloma Necrobiótico/complicaciones , Paraproteinemias/complicaciones , Histiocitosis de Células no Langerhans/complicaciones , Prueba de Coombs/métodos , Diagnóstico DiferencialRESUMEN
Necrobiotic xanthogranuloma (NXG) is a chronic, progressive non-Langerhans histiocytic granulomatous disease. While case reports describing periorbital involvement of NXG are frequent, only a few case reports describing ocular involvement, such as scleritis and uveitis, exist. Herein, we present a case presenting initially as bilateral anterior and posterior scleritis, as well as a chronic bilateral granulomatous panuveitis, and discuss the immunosuppressant options that should be considered for this disease with protean manifestations.