Reticulohistiocitosis multicéntrica: una gran simuladora dentro de la Reumatología / Multicentric reticulohistiocytosis: a great pretender within Rheumatology

La reticulohistiocitosis multicéntrica (RHM) es una histiocitosis de células no Langerhans, multisistémica, rara, caracterizada por afectación cutánea y articular, que poco frecuentemente afecta a otros órganos. El diagnóstico se basa en hallazgos clínicos y resultados de biopsias de piel o sinovial, sin describirse un parámetro de laboratorio específico. Realizamos una revisión de la literatura en relación a las características clínicas de esta entidad desde el punto de vista reumatológico.

Multicentric reticulohistiocytosis (MHR) is a rare, multisystem, non-Langerhans cell histiocytosis characterized by skin and joint involvement, and rarely involving other organs. Diagnosis is based on clinical findings and results of skin or synovial biopsies; a specific laboratory parameter has not been described. We conducted a review of the literature regarding the clinical characteristics of this entity from a rheumatological point of view.

Upper eyelid juvenile xanthogranuloma: a case report / Xantogranuloma juvenil em pálpebra superior: relato de caso

ABSTRACT Juvenile xanthogranuloma is a rare benign non-Langerhans cell histiocytosis. Clinical manifestation usually occurs up to the age of 2 years, with yellowish papules and variable clinical progression. Approximately 0.75% of patients had systemic involvement and 0.25%, ocular alterations. The purpose of this report is to describe a case of a preschool 2-year-old female patient, with nodules in the upper right eyelid, 0.5-cm wide, with well-defined edges, an uncertain date of onset, a stable growth for 6 months, with no inflammatory signs, pruritus, pain, bleeding, or other similar lesions in the body. No further changes were observed in the physical examination. Histopathological examination of the specimen showed a skin lesion with histiocytoid, spindle-shaped cells and xanthomized cells, inflammatory infiltrate and numerous Touton giant cells. The result was compatible with diagnosis of juvenile xanthogranuloma. Therefore, the importance of including juvenile xanthogranuloma in the differential diagnosis of eyelid lesions is emphasized, especially in children.

RESUMO O xantogranuloma juvenil é uma patologia histiocítica benigna rara. A manifestação clínica ocorre geralmente até os 2 anos de idade com pápulas amareladas e evolução clínica variável. Cerca de 0,75% dos pacientes apresentaram comprometimento sistêmico e 0,25%, comprometimento ocular. O objetivo deste relato é descrever o caso de uma pré-escolar de 2 anos do sexo feminino, com nodulação em pálpebra superior direita, 0,5cm de base e bordos bem definidos, data de início não estimada, mas crescimento estável há 6 meses, sem sinais flogísticos, prurido, dor, sangramentos ou outras lesões similares no corpo. Sem mais alterações ao exame físico. A análise histopatológica da peça evidenciou lesão cutânea com células histiocitoides, fusiformes e outras xantomizadas; infiltrado inflamatório de permeio e numerosas células gigantes do tipo Touton, resultado compatível com o diagnóstico de xantogranuloma juvenil. Assim, ressalta-se a importância da inclusão do xantogranuloma juvenil no diagnóstico diferencial de lesões palpebrais, especialmente em crianças.

Case for diagnosis. Diffuse ulcerated nodular lesions

Abstract Langerhans cell histiocytosis is a rare clonal proliferative disease, characterized by the infiltration of one or multiple organs by histiocytes. Due to the diversity of signs and symptoms, the diagnosis of this disease is often late. The estimated incidence in adults is one to two cases per million, but the disease is probably underdiagnosed in this population. This report presents a case of disseminated Langerhans cell histiocytosis. The authors highlight the most characteristic aspects of this rare and heterogeneous disease, which usually presents as a challenging clinical diagnosis.

Agminated atypical melanocytic nevus associated with Langerhans cell histiocytosis

Abstract: Agminated nevus refers to the presence of multiple nevi grouped in a circumscribed skin area; it is rarely reported in the literature. This report presents the case of a 10-year-old female patient with a history of Langerhans cell histiocytosis, who presents multiple nevi in the lumbar and inguinal region. In the histopathological study, an atypical melanocytic nevus was reported. Wood's lamp examination discarded the presence of nevus spilus, and the diagnosis of agminated nevus was reached. The association of this type of nevus with Langerhans cell histiocytosis is rare, and only four cases were found reported in the indexed literature. The reason for this association is unknown, thus a new theory about its origin is presented here.

Juvenile Xanthogranuloma: A Case Report and Review of the Literature / Xantogranuloma Juvenil: Informe de un Caso y Revisión de la Literatura

SUMMARY: Juvenile xanthogranuloma (JXG), is a benign histiocytic proliferation of uncertain histiogenesis which was first described by Adamson in 1905. It is a regressing disorder which occurs in children usually within first year of life. A child of ten months age reported to the Azeezia College of Dental Sciences and Research with a nodular swelling on the right side of the cheek and gave a history of swelling since the age of 5 months with gradual increase in size which was not associated with pain or itching. A provisional diagnosis of Haemangioma was made and excision biopsy of the lesion was done under general anaesthetia. Depending on the histopathologic and immunohistochemical findings a diagnosis of Juvenile Xanthogranuloma was made. The excisional biopsy site healed uneventfully with minimal scar formation. JXG is a benign fibrohistiocytic lesion and a type of granulomatous process. Pathogenesis of the lesion is unknown. It is generally considered to be a reactive lesion. Most common presentation is as solitary cutaneous lesion. Children are affected at a median age of 2 years with a male female ratio of 1.5:1. Classic histopathologic findings include Nodular to diffuse collection of histiocytes with finely vacuolated foamy cytoplasm and round to oval nuclei, Touton giant cells which are the cells with a central wreath of nuclei and peripheral rim of eosinophilic to vacuolated cytoplasm loaded with fat and Inflammatory infiltrate such as lymphocytes and eosinophils. JXG has to be clinically differentiated from Xanthoma, Molluscum contagiosum, Haemangioma and Neurofibroma. Mostly a self-limiting disease which spontaneously resolves. Conservative management is the treatment of choice. Excision may be done due to esthetic and diagnostic reasons. Recurrence is uncommon. JXG is a disease predominantly of early childhood, benign and self-healing.

RESUMEN: El xantogranuloma juvenil (JXG) es una proliferación histiocítica benigna de histiogénesis incierta que fue descrita por primera vez por Adamson en 1905. Es un trastorno regresivo que ocurre en los niños generalmente durante el primer año de vida. Un niño de diez meses de edad consultó al Colegio de Ciencias e Investigación Dental Azeezia por la presencia de hinchazón nodular en el lado derecho de la mejilla y un historial de hinchazón desde la edad de 5 meses con un aumento gradual en el tamaño que no estaba asociado con dolor o comezón. Se realizó un diagnóstico provisional de hemangioma y se realizó una biopsia de escisión de la lesión con GA. A partir de los hallazgos histopatológicos e inmunohistoquímicos, se realizó un diagnóstico de Xantogranuloma Juvenil. El sitio de la biopsia por escisión se curó sin incidentes con una formación de cicatriz mínima. JXG es una lesión fibrohistiocítica benigna y un tipo de proceso granulomatoso. La patogenia de la lesión es desconocida. Generalmente se considera que es una lesión reactiva. La presentación más común es como una lesión cutánea solitaria. Los niños se ven afectados a una edad media de 2 años con una proporción de hombres y mujeres de 1,5:1. Los hallazgos histopatológicos clásicos incluyen colección nodular a difusa de histiocitos con citoplasma espumoso finamente vacuolado y núcleos redondos a ovalados, células gigantes de Touton que son las células con una corona central de núcleos y margen periférico de citoplasma eosinófilo a vacuolado cargado con grasa e infiltrado inflamatorio como linfocitos y eosinófilos. JXG tiene que ser clínicamente diferenciado de Xanthoma, Molluscum contagiosum, Hemangioma y Neurofibroma. Es una enfermedad principalmente autolimitante que se resuelve espontáneamente. El tratamiento conservador es el tratamiento de elección. La escisión puede realizarse por razones estéticas y diagnósticas. La recurrencia es poco común. JXG es una enfermedad predominantemente de la primera infancia, benigna y autocurable.

Case for diagnosis. Solitary violaceous nodule on the toe

Abstract: Reticulohistiocytomas represent a group of benign histiocytic dermal proliferations, which occur either sporadically as solitary cutaneous nodules or, when multiple, in association with systemic disease. Due to its nonspecific clinical presentation, reticulohistiocytoma may mimic other benign or malignant skin neoplasms; therefore, in most cases, a biopsy is needed in order to establish the correct diagnosis. The histology is typically characterized by the presence of large histiocytes with abundant eosinophilic cytoplasm with immunohistochemical profile positive for CD68, CD163, and vimentin. The authors report the case of a patient with solitary reticulohistiocytoma with illustrative clinical, dermoscopic, and histologic features.

Xantoma disseminado: relato de caso e revisão da literatura / Disseminated xanthoma: a case report and literature review

Xantoma disseminado é uma histiocitose não Langerhans, rara, não familiar, benigna, normolipídica, caracterizada pela deposição lipídica na pele e órgãos internos secundária à proliferação histiocitária. É caracterizado por lesões xantomatosas que geralmente afetam as regiões flexurais e, frequentemente, acomete mucosas. Tem curso em geral benigno, com resolução das lesões cutâneas em alguns anos, porém lesões em certas localizações podem resultar em morbidade e até óbito, sendo, nestes casos, o achado cutâneo uma importante pista diagnóstica. Devido à sua raridade, não há um consenso terapêutico, e as respostas às terapias têm sido insatisfatórias. Relatamos o caso de uma paciente com essa patologia, na qual não foi detectada patologia sistêmica (AU)

Disseminated xanthoma is a rare non-familial, benign, and normolipid form of non-Langerhans histiocytosis, characterized by lipid deposition in the skin and internal organs secondary to histiocytic proliferation. It is characterized by xanthomatous lesions that generally affect the flexural regions and often affects mucous membranes. Although it has a generally benign course, with resolution of cutaneous lesions in a few years, lesions in certain locations can result in morbidity and even death. In these cases, the cutaneous finding is an important diagnostic clue. Because of its rarity, there is no therapeutic consensus and responses to therapies have been unsatisfactory. Here we report the case of a patient with this disorder, in whom no systemic disease was detected (AU)

Congenital Langerhans cell histiocytosis: a good prognosis disease?

Abstract: Langerhans cell histiocytosis is rare and more frequent in children. The skin is affected in 50% of the cases and is the only site in 10%. Its course varies from self-limited and localized forms to severe multisystemic forms. Congenital cases are usually exclusively cutaneous and self-limited, with spontaneous remission in months. This study presents a rare congenital case, initially restricted to the skin, with subsequent dissemination and fatal outcome. A male newborn presented congenital disseminated erythematous scaly lesions. The biopsy was conclusive for Langerhans cell histiocytosis. The patient evolved into the multisystemic form in weeks, when chemotherapy was started, according to the LCH-2009 protocol; however, the patient was refractory to treatment and died.

Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart / Journal of the Korean Cancer Association, 대한암학회지

Histiocytosis is an uncommon disease characterized by excessive accumulation of histiocytes. Here, we report a rare case of non-Langerhans-cell histiocytosis in a 51-year-old woman who presented with severe symptoms of pericardial effusion. Radiologic investigation also detected multiple bone (lower limbs, vertebrae, ribs, and ilium) lesions. Resected pericardium showed abundant mono- or multi-nucleated non-foamy histiocytes (CD68⁺/CD163⁺/S-100⁺/CD1α⁻/langerin⁻) in a fibroinflammatory background. The histiocytes demonstrated emperipolesis of lymphocytes, a hallmark feature of Rosai-Dorfman disease (RDD). However, molecular analysis revealed a BRAF V600E mutation of the proliferating histiocytes, highlighting the neoplastic features frequently observed in another non-Langerhans-cell histiocytosis known as Erdheim-Chester Disease (ECD). We consider this case to be a unique presentation of ECD harboring some RDD-like cells with emperipolesis, but not a case of RDD with a BRAF mutation concerning its clinical manifestation (involvement of the heart and bones) and neoplastic features.

Reticulohistiocitosis multicéntrica de inicio súbito por quemadura solar / Multicentric reticulohistiocytosis, sudden onset after sunburn

Las reticulohistiocitosis son un grupo de enfermedades muy poco frecuentes que se caracterizan por la acumulación de histiocitos en piel y articulaciones principalmente. Se suelen asociar a condiciones y patologías muy variadas, predominantemente neoplasias. Presentamos un caso de inicio súbito luego de quemadura solar (AU)

Reticulohisticytosis is a group of diseases characterized by the accumulation of cells of histiocytic lineage primarily in the skin and joints. They have been associated with many conditions and diseases, mainly malignant neoplasms. A case of multicentric reticulohitiocytosis of sudden onset after sunburn is reported (AU)

A Case of Xanthoma Dissemiantum with Laryngeal and Stomach Mucosal Involvement / 대한피부과학회지

No abstract available.

A Unique Case of Erdheim-Chester Disease with Axial Skeleton, Lymph Node, and Bone Marrow Involvement / Journal of the Korean Cancer Association, 대한암학회지

Erdheim-Chester disease is a rare non-Langerhans-cell histiocytosis with bone and organ involvement. A 76-year-old man presented with low back pain and a history of visits for exertional dyspnea. We diagnosed him with anemia of chronic disease, cytopenia related to chronic illness, chronic renal failure due to hypertension, and hypothyroidism. However, we could not determine a definite cause or explanation for the cytopenia. Multiple osteosclerotic axial skeleton lesions and axillary lymph node enlargement were detected by computed tomography. Bone marrow biopsy revealed histiocytic infiltration, which was CD68-positive and CD1a-negative. This report describes an unusual presentation of Erdheim-Chester disease involving the bone marrow, axial skeleton, and lymph nodes.

Histiocitosis de células no Langerhans / Non-Langerhan cell histiocytoses

Las histiocitosis son un conjunto de enfermedades caracterizadas por la proliferación de células del sistema mononuclear fagocítico. Dentro de éstas, las histiocitosis de células noLangerhans (HCNL) son un grupo heterogéneo de entidades distintas, infrecuentes, que se caracterizan fundamentalmente por su naturaleza reactiva. No presentan evidenciasclínicas o de laboratorio de malignidad y tampoco proliferación de células de Langerhans. Nos referiremos en particular a cuatro entidades de este grupo: xantogranuloma juvenil(XJ), histiocitoma eruptivo generalizado (HEG), xantogranuloma necrobiótico (XN) y enfermedad de Rosai Dorfman (ERD) variedad cutánea pura...

Bilateral Total Hip Arthroplasty in a Rare Case of Multicentric Reticulohistiocytosis

Multicentric reticulohistiocytosis (MRH) is a rare systemic disease, which commonly manifests as muco-cutaneous papulonodules and inflammatory erosive polyarthropathy. In this research, we report the clinical manifestations and management of a rare case of MRH with destructive arthropathy of bilateral hip joints and arthritis mutilans presenting with characteristic deformities. Disabling hip arthropathy that occurs secondary to MRH can be successfully managed with bilateral total hip arthroplasty (THA). Osteopenia and acetabular bone defects must be anticipated during THA. This case is reported due to its rare occurrence and because little literature has been published regarding THA in such patients.

Reticulohistiocitosis multicéntrica en paciente con artritis reumatoidea / Multicentric reticulohistiocytosis in a patient with rheumatoid arthritis

La reticulohistiocitosis multicéntrica (RHM) es una patología sistémica, de baja prevalencia, considerada dentro delgrupo de las histiocitosis no Langerhans. Clínicamente se caracteriza por el compromiso de la piel y las articulaciones.Se describe el caso de un paciente masculino con antecedente de diagnóstico de artritis reumatoidea (AR) de 10 años de evolución, que en 2008 se presenta a la consulta por un cuadro de poliartritis asociado a prurito cutáneo,hiperpigmentación facial y presencia de múltiples lesiones nodulares rojovioláceas en codos y manos. Mediante biopsia de las lesiones cutáneas se confirma el diagnóstico de RHM. Cabe destacar que se ha descripto hasta un 30% de asociación de la entidad con patologías neoplásicas; en nuestro paciente el tamizaje fue negativo. En cuanto al tratamiento no existen protocolos avalados científicamente dada la baja incidencia de la enfermedad, por lo que sigue siendo experimental. En nuestro paciente se realizó tratamiento exitoso con metotrexate.

Multicentric reticulohistiocytosis (MRH) is a systemic pathology of low prevalence within the group of histiocytosis no-Langerhans. It is clinically characterized by the involvement of skin and joints. The present article describes the case of a male subject with a diagnosis of rheumatoid arthritis of 10 years’ duration. In 2008 he was seen in our service with multiple nodular, red skin lesions in his hands and elbows. A biopsy of the cutaneous lesions confirmed the diagnosis of MRH. An association with neoplasic disease has been described in 30% of the cases; however, in our patient cancer screening was negative. With regard to the treatment, scientifically proven protocols do not exist. This is due to the low incidence of the disease. Our patient responded well to methotrexate.

Histiocytosis: a review focusing on neuroimaging findings / Histiocitoses: uma revisão focada em achados de neuroimagem

Objective: Histiocytosis is a systemic disease that usually affects the central nervous system. The aim of this study is to discuss the neuroimaging characteristics of Langerhans cell histiocytosis (LCH), the most common of these diseases; and the non-Langerhans cells histiocytosis (NLCH), which includes entities such as hemophagocytic syndrome, Erdheim-Chester and Rosai-Dorfman diseases. Method: Literature review and illustrative cases with pathologic confirmation. Results: In LCH, the most common findings are 1) osseous lesions in the craniofacial bones and/or skull base; 2) intracranial, extra-axial changes; 3) intra-axial parenchymal changes (white and gray matter); 4) atrophy. Among the NLCH, diagnosis usually requires correlation with clinical and laboratory criteria. The spectrum of presentation includes intraparenchymal involvement, meningeal lesions, orbits and paranasal sinus involvement. Conclusion: It is important the recognition of the most common imaging patterns, in order to include LCH and NLCH in the differential diagnosis, whenever pertinent. .

Objetivo: Histiocitose é uma doença sistêmica que, frequentemente, acomete o sistema nervoso central. Este trabalho propõe discutir as características de neuroimagem da histiocitose de células de Langerhans (HCL), mais comum; e as histiocitoses não-Langerhans (HNL), como a síndrome hemofagocítica, doenças de Erdheim-Chester e Rosai-Dorfman. Método: Revisão de literatura, com demonstração de casos confirmados por anatomopatológico. Resultados: Na HCL os achados mais comuns são: 1) lesões ósseas craniofaciais e da base do crânio; 2) lesões intracranianas, extra-axiais; 3) acometimento parenquimatoso intra-axial na substância cinzenta ou branca; 4) atrofia. Dentre as HNL, o diagnóstico, em geral, exige correlação com critérios clínico-laboratoriais. O espectro de apresentação das mesmas inclui acometimento intraparenquimatoso, lesões meníngeas, envolvimento orbitário e das cavidades paranasais. Conclusão: É importante o reconhecimento dos padrões de imagem mais comuns, para que HCL e HNL sejam incluídas no diagnóstico diferencial, sempre que pertinente. .