RESUMO
Juvenile xanthogranuloma (JXG) is a cutaneous form of non-Langerhans cell histiocytosis, primarily affecting children. The lesion is presumed to originate from either macrophages or dermal dendritic cells. JXG can rarely present as an isolated intracranial lesion and, in contrast to the dismal outcome of patients with systemic disease, cranial JXG has been shown to carry a more favorable prognosis. Here, we report for the first time 3 pediatric cases of JXG with a BRAF V600E mutation, 2 with intracranial lesions and 1 with cranial lesions. Although these intracranial/cranial lesions have been referred to as JXG, they likely differ from cutaneous JXG in both the clinical features and BRAF status. It may be more appropriate to classify intracranial/cranial JXG in the same group as Langerhans cell histiocytosis and Erdheim-Chester disease, which also have a BRAF V600E mutation. Further study of BRAF status in a larger series of JXG is warranted.
Assuntos
Encefalopatias/genética , Doença de Erdheim-Chester/genética , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Xantogranuloma Juvenil/genética , Encefalopatias/enzimologia , Encefalopatias/patologia , Encefalopatias/terapia , Criança , Pré-Escolar , Análise Mutacional de DNA , Doença de Erdheim-Chester/enzimologia , Doença de Erdheim-Chester/patologia , Doença de Erdheim-Chester/terapia , Marcadores Genéticos , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Fenótipo , Resultado do Tratamento , Xantogranuloma Juvenil/enzimologia , Xantogranuloma Juvenil/patologia , Xantogranuloma Juvenil/terapiaRESUMO
Skin biopsies from two children with juvenile xanthogranuloma were studied. Enzyme- and immunohistochemistry was used to establish the mononuclear phagocytic nature of the proliferating dermal elements. The usefulness of both techniques in the diagnosis and the differential diagnosis of this disease is suggested.
