Mieloma múltiple: enfermedad ósea extensa en una paciente joven / Myeloma multiple: extensive bone disease in a young patient

El mieloma múltiple (MM) es un tumor de proliferación clonal de plasmocitos en la médula ósea (MO). Hasta ahora no es curable1,2. Puede presentarse como una enfermedad indolente o con manifestaciones clínicas como insuficiencia renal, anemia y lesiones osteolíticas1. Se presenta el caso de una paciente femenina de 46 años, quien padecía dolor en la región del brazo izquierdo, acompañado por dolores óseos generalizados. Al examen físico se observó en el tercio proximal de la región humeral izquierda y hombro ipsilateral, gran tumoración que deformaba la anatomía local, indurada, inmóvil y dolorosa. Presentaba anemia severa (Hb. 6 g/dL), cuantificación de ß2 Microglobulina 4,23 mg/L (VR 0,80 ­ 3,0 mg/L) y rastreo óseo radiológico con múltiples lesiones líticas. En la muestra de médula ósea se encontró infiltración de 80 % de células plasmáticas mono- clonales kappa. Se le diagnosticó discrasia de células plasmáticas tipo MM monoclonal kappa sintomático, estadio II (ISS), con enfermedad ósea extensa y un gran plasmocitoma humeral izquier- do. Se indicó tratamiento de inducción de la remisión con el esquema VCD (bortezomib, ciclofosfamida y dexametasona). Adicionalmente ácido zoledrónico. Posteriormente se modificó a bortezomib, talidomida y prednisona. Luego del tratamiento antineoplásico, refirió acalmia completa del dolor con mejoría de la movilidad. Este caso clínico se trata de una presentación inusual de MM debido a la edad de la paciente y a la extensa enfermedad ósea. Llamó la atención la ausencia de niveles elevados de la cadena liviana kappa de las inmunoglobulinas libres en suero. Por la edad de la paciente y la ausencia de co-morbilidades significativas, es candidata para trasplante de células progenitoras hematopoyéticas (TCPH)(AU)

Multiple myeloma (MM) is a tumor of clonal proliferation of plasma cells in the bone marrow (BM). Until now it is not curable1,2. It can present as without symptoms or with clinical manifestations such as renal failure, anemia and osteolytic lesions1. We describe the case of a 46-year-old female patient, who complained of pain in her left arm, and, also, by generalized bone pain. On physical examination a large tumor was present in the proximal third of the left humeral region and ipsilateral shoulder, it was hard, painful and immo- bile. She had severe anemia (Hb 6 g / dL), quantification of ß2 Microglobulin 4.23 mg / L (VR 0.80 - 3.0 mg /L) and the radiological bone survey showed multiple lytic lesions. In the bone marrow sample, an infiltration of 80 % kappa monoclonal plasma cells was found. Her diagnosis was MM-type plasma cell dyscrasia, symptomatic kappa, stage II (ISS), with extensive bone disease and a large left humeral plasmacytoma. Remission induction therapy was indicated with the VCD scheme (bortezomib, cyclophosphamide and dexa- methasone). Additionally zoledronic acid was administered. Subsequently, it was modified to bortezomib, thalidomide and prednisone. After antineoplastic treatment, she referred pain relief with improvement of mobility. This clinical case is an unusual presentation of MM due to the age of the patient and extensive bone disease. The absence of high levels of the kappa light chain of free immunoglobulins in serum attracted attention. Due to the age of the patient and the absence of significant comorbidities, she is a candidate for trans- plantation of hematopoietic stem cells(AU)

Rare Langerhans cell histiocytosis in children: a case report

Langerhans cell histiocytosis (LCH) is a rare disease, formally known as histiocytosis X that is characterized by abnormal proliferation of histiocytes derived from bone marrow (Langerhans cells), joined with leucocytes, eosinophils, neutrophils, lymphocytes, plasma cells and giant multi-nucleated cells causing tissue destruction. One of the first signs of LCH is oral manifestation, in some cases, the oral cavity may be the only affected area. With the chance of oral lesion incidence in LCH being 77%.Initial symptoms are generally nonspecific, which can easily cause misdiagnoses.The purpose of reporting this case is to discuss the features of LCH clinically and radiographically and in the role of the dentist when diagnosing such lesions for a proper management.An 11-year-old boy reported a complaint of swelling in the left side of the lower jaw that is asymptomatic and had been gradually increasing in size for the past 6 months without any improvements. After preforming a biopsy and diagnosing the lesion as LCH, the patient was then treated with a dose of vinblastine (6 mg/m2 intravenous bolus) for 24 weeks as a total period. Two years follow up; the patient showed no sign of recurrence and is in good general condition. In conclusion, reporting this case serves as documentation of the proper route of clinical assessment and diagnosis of LCH with the best possible treatment as guidance.

Osteomielitis Crónica Multifocal Recurrente: presentación de caso / Chronic Recurrent Multifocal Osteomyelitis: presentation of case

Los síndromes autoinflamatorios son un grupo de enfermedades caracterizadas por episodios espontáneos, recurrentes o persistentes de inflamación multisistémica. En ellos no se evidencia una etiología infecciosa, neoplásica o autoinmune. Están causadas por alteraciones de la inmunidad innata, lo que ocasiona una desregulación del sistema inflamatorio a nivel del inflamosoma. Estos síndromes se subdividen en dos grandes grupos los síndromes hereditarios de fiebre periódica y las enfermedades autoinflamatorias persistentes, dentro de este último se ubican las enfermedades inflamatorias óseas donde se incluye la osteomielitis multifocal crónica recurrente. Presentamos un caso de una niña de 9 años que ingresa en nuestro hospital por un síndrome febril prolongado y después de múltiples investigaciones se concluye como una osteomielitis multifocal crónica recurrente.

Autoinflammatory syndromes are a group of diseases characterized by spontaneous, recurrent or persistent episodes of multisystem inflammation. They do not show an infectious, neoplastic or autoimmune etiology. They are caused by alterations of the innate immunity, which causes a dysregulation of the inflammatory system at the level of the inflammasome. These syndromes are subdivided into two major groups, the hereditary syndromes of periodic fever and the persistent autoinflammatory diseases; within the latter are the inflammatory bone diseases which chronic recurrent multifocal osteomyelitis. We present a case of a 9-year-old girl who enters our hospital due to a prolonged febrile syndrome and after multiple investigations, it concludes as a Chronic Recurrent Multifocal Osteomyelitis.

Lesões líticas de alto risco e fraturas patológicas / High-risk lytic lesions and pathologic fractures

Introdução: As neoplasias ósseas, sejam primárias ou metastáticas, representam um grande risco à qualidade de vida do paciente; especialmente quando se tratam de lesões dolorosas e com risco de evoluírem a fraturas ósseas, principalmente as do tipo osteolíticas. Lesões osteolíticas podem ocorrer em diversas patologias ósseas não tumorais, como cisto ósseo simples, cisto aneurismático, hiperparatireoidismo, bem como por neoplasias, entre elas destacando-se Mieloma Múltiplo tumores metastáticos, principalmente, Câncer de Mama, Próstata, Pulmão e Rim, cujas principais complicações são as fraturas ósseas patológicas. Métodos: Foram revisados artigos disponíveis em plataformas indexadas online, bem como revisada a literatura disponível em livros textos, guidelines e base de dados nacionais e internacionais. Resultados: Fraturas patológicas podem acometer até 30% dos pacientes com doença metastática óssea, causando dor importante mesmo no período anterior à fratura propriamente dita (Fratura Iminente) ou quando ela já é inevitável. Visando avaliar de forma objetiva a indicação de intervenções profiláticas, Mirels propôs um escore de pontuação avaliando multifatorialmente as lesões ósseas e seus possíveis prognósticos para fraturas. Conclusão: Embora ainda seja considerada o padrão-ouro e relativamente eficiente, o sistema de pontuação de Mirels deve ser aplicado junto com a avaliação clínica e de exames de imagem do médico, como a melhor forma de antever a fratura e, se possível, tratá-la profilaticamente.

Introduction: Bone neoplasms, whether primary or metastatic, represent a great risk to the patient's quality of life; especially when they deal with painful lesions and risk of developing osteolytic fractures. Osteolytic lesions may occur as a result of several non-tumorous bone pathologies, such as simple bone cyst, aneurysmal cyst, hyperparathyroidism, as well as neoplasias, among them Metastatic Multiple Myeloma, Breast Cancer, Prostate, Lung, and Kidney and its main complications are the bone fractures. Methods: Articles available on online indexed platforms were reviewed, as well as the literature available in national and international text books, guidelines and databases. Results: Pathological fractures can affect up to 30% of patients with metastatic bone disease, causing important pain even in the period before the fracture itself (Imminent Fracture), when it is already inevitable. In order to objectively evaluate the functionality of prophylactic interventions, Mirels proposed a scoring score evaluating multifactorially the bone lesions and their possible prognoses. Conclusion: Although the gold standard is still considered to be relatively efficient, the Mirels scoring system should be applied in conjunction with clinical assessment and imaging of the physician in order to better anticipate the fracture and, if possible, treat prophylactically.

Disappearing Bone Disease with Disappearing Spleen.

A 6-year-old girl who reported for pain abdomen was incidentally detected to have multiple osteolytic lesions on X-ray. She was diagnosed as a case of Gorham’s disease following confirmation with histopathology and kept on close follow–up. She was admitted again after 2 years for fever and investigations revealed an absent spleen apart from multicentric osteolytic lesions. This is the first case reported of a child with Gorham’s disease who has had an auto-splenectomy on follow-up.