Adult Langerhans cell histiocytosis: An unusual cause of referred knee pain

@#Langerhans cell histiocytosis (LCH) in adults is rare and regarded as an ‘orphan disease.’ The systemic symptoms of LCH can mimic many other undifferentiated diseases seen at the primary care level. Failure to diagnose and delays in referral are common pitfalls in the management of this disease. We present a case of a 34-year-old woman with referred knee pain who was eventually diagnosed with multi-system LCH 4 years after the initial presentation. The mean age of presentation of LCH symptoms in adults is 33. Bone lesions are the frequent presentation of LCH in this age group. Endocrine involvement in LCH is seen in the form of diabetes insipidus (DI), which remains the most common extraskeletal presentation of LCH in adults. In the case discussed here, a definitive diagnosis of LCH was established through tissue biopsy. The spectrum of undifferentiated symptoms underscores the difficulty and delay in making a diagnosis associated with the condition. Most GPs not only face the predicament of initial recognition but also fail to merge presenting symptoms to form a purposeful referral of this elusive disease to a tertiary care unit.

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. .

Granuloma eosinofílico da coluna vertebral cervical em criança / Eosinophilic granuloma of the cervical spine in children

Granuloma eosinofílico (GE) refere-se à forma benigna e mais frequente de histiocitose de células de Langerhans. Trata-se de uma doença que acomete principalmente crianças e adolescentes, sendo rara a sua ocorrência em adultos. Constitui a forma localizada de proliferação de histiócitos em crânio e ossos longos. O acometimento vertebral é incomum, sendo a localização cervical a menos descrita. Neste artigo, é descrito um caso de uma criança de 7 anos de idade com GE na coluna vertebral cervical com compressão medular. A criança evoluiu com regressão dos sintomas após tratamento conservador, tendo permanecido assintomática ao longo de seguimento de dois anos.

Eosinophilic granuloma (EG) is a benign and more frequent form of Langerhans cell histiocytosis. Children and adolescent are mainly affected, being rare in adults. There is local proliferation of histiocytes in skull and long bones. Vertebral involvement is uncommon, especially at the cervical local. In this paper, we describe a case of a 7 years old child with EG in the cervical spine with spinal cord compression. The patient presented with regression of symptoms after conservative treatment and remained asymptomatic at the two years follow-up.

Histiocitosis: reporte de un caso / Histiocytosis: case report

La histiocitosis de células de Langerhans se describió desde el siglo XIX. Su origen y patogénesis se basan actualmente en tres eventos: clonalidad comprobada, un proceso reactivo a una infección viral, una proliferación y daño mediados por citocinas. El diagnóstico es histopatológico con la demostración de gránulos de Birbeck o la positividad para CD1a. Afecta a pacientes de cualquier edad y se manifiesta como una lesión osteolítica única o hasta como una enfermedad sistémica. El tratamiento es la resección quirúrgica, la radioterapia o la quimioterapia. El pronóstico varía de acuerdo a la presentación clínica.

Langerhans’s cell histiocytosis was first described in the XIX century. Its origin and pathogenesis are based mainly on 3 events: clonal proliferation, a cytokines – mediated reactive process secondary to a viral infection. Diagnosis is based on histopathologic studies by the presence of Birbeck granules or CD1a positivity. Langerhans’ cell histiocytosis affects patients of any age; it may present as a single osteolitic lesion or as a systemic disease. Treatment is based on surgical resection, radiotherapy or chemotherapy. Outcome varies on the clinical presentation of the disease.