ABSTRACT
INTRODUCTION: We report three cases of sinus histiocytosis, a rare disease of unknown aetiology with massive lymphadenopathy (SHML), also known as Rosai-Dorfman (RD) disease, in a paediatric population. This proliferative histiocytic disorder is defined by histological and immunohistochemical (IHC) characteristics and can manifest as nodal involvement with variable enlargement of the lymph nodes (two cases) and extranodal manifestations involving skin and larynx involvement (one case). One patient had hypergammaglobulinemia. The morphological investigation revealed that all lymph nodes showed hyperplasia of sinuses with abundant histiocytic cell with intracytoplasmic lymphocytes. Skin and larynx biopsies showed a histiocyte and lymphocyte infiltrate with similar characteristics. An ultrastructural study was carried out on material from one patient. In the IHC study, SHML cells expressed phagocytic markers such as CD68 and S100, but markers for Langerhan's (CD1a) or dendritic cells (DRC, CD23 and CNA42) were absent. Two patients had a complete remission after surgical excision and no other treatment, but the third patient was treated with radiotherapy after a relapse with obstruction of the upper airway. CONCLUSION: This disorder must be considered in the differential diagnosis of young patients who exhibit massive or multiple lymphadenopathies, especially when involvement of the cervical area occurs. Due to the good outcome of the disease, a conservative approach is justified.
Subject(s)
Histiocytosis, Sinus/diagnosis , Adolescent , Agammaglobulinemia/complications , Antigens, CD/metabolism , Antigens, Differentiation, Myelomonocytic/metabolism , Biopsy , CD3 Complex/metabolism , CD4-CD8 Ratio , Child , Humans , Hypergammaglobulinemia/complications , Immunoglobulins/analysis , Infant , Larynx/pathology , Lymph Nodes/pathology , Lymphocytes/pathology , Male , Phagocytes/pathology , S100 Proteins/metabolism , Skin/pathology , T-Lymphocytes/metabolismABSTRACT
Introducción: La enfermedad de Paget (EP) vulvar esde baja incidencia (menos de 1% de los tumores de esa localización)y corresponde a un adenocarcinoma mucosointraepitelial. La asociación con un tumor infiltrante de lamisma estirpe y subtipo, plantea la relación entre ambasneoplasias así como su origen, habiendo sido descrito comomás frecuente la extensión Pagetoide de tumores metastásicosen la vulva, sobre todo del carcinoma recto-sigmoideo.Pacientes y Métodos: Se presenta el caso de una mujer de71 años que debutó con metástasis inguinales de un carcinomasecretor y que post-vulvectomía presentó ese mismotumor infiltrante, además de una EP extensa. Se realizaestudio morfológico de rutina e inmunohistoquímico con unpanel diferencial de queratinas, CEA, EMA, C-erb2,CA125, CA19-9, receptores de estrógenos y de progesterona,S100 y HMB45 para tratar de conocer el origen de laneoplasia. Resultados: Ambas neoplasias corresponden aun adenocarcinoma secretor, infiltrante e intraepitelial. Elinmunofenotipo con negatividad para queratina 20 y laexpresión de AE1-3, CAM5.2, CQ7, CEA, EMA, CA125 yCA19-9 en ambos tumores infiltrante e intraepitelial, favoreceel diagnóstico de EP primaria con adenocarcinomamucoso infiltrante, de probable origen en glándulas vulvaresanejas. Conclusiones: A pesar del correcto diagnósticoy tratamiento adecuado, la enferma tuvo un pronóstico desfavorabledebido al estadio avanzado de la enfermedad
Introduction: Vulvar Paget´s disease (VPD) is infrequent(less than 1% of vulvary tumours) and corresponds toa mucous intraepithelial adenocarcinoma. The associationof VPD with an infiltrating tumour of the same lineagerequires investigation of the relationship between the twoneoplasias. Primary VPD is less common than the «pagetoid» involvement of metastatic vulvar carcinomas arisingin the recto-sigmoid tract. Patients and methods: Femalepatient, 71 years old, with inguinal metastatic tumour isreported. After a total vulvectomy, a mucous infiltratingadenocarcinoma and VPD were diagnosed. A routine morphologicalstudy and a complete panel of Immunohistochemistrywere done in order to differentiate the origin andaggressivity of both neoplasms. Results: The two tumourswere adenocarcinomas with positive Mucicarmin stainingone without (VPD) and the second with infiltrative characteristics.Immunophenotype favours the diagnosis of primaryVPD and probable carcinoma of glandular vulvarappendages (negativity for keratin-20, Cerb 2, S100,HMB45, estrogen and progesteron receptors and positivityfor AE1-3 and CAM5.2 Keratin, keratin-7, CEA, EMA,CA125 and CA19-9). Conclusions: In spite of a correctdiagnosis and treatment, the patient underwent an unfavourableclinical course because of the advanced stage of thedisease
