RESUMO
Xantogranulomatose juvenil (XGJ) é uma desordem benigna de cura espontânea, caracterizada por nódulos cutâneos vermelhos-amarelados (solitários ou múltiplos) e, ocasionalmente, acomete outros órgãos. É predominantemente uma doença da infância, embora os adultos também possam ser afetados. Histologicamente, a XGJ representa um acúmulo de histiócitos com células de citoplasma espumoso e células gigantes de Touton, sem grânulos de Birbeck (células não-Langerhans). A saúde geral do paciente não é afetada e, na ausência de condições associadas, o prognóstico é excelente. O diagnóstico é feito rapidamente em casos típicos, mas pode ser mais difícil em variantes incomuns. Este artigo relata o caso de uma criança de cinco meses de idade, do sexo masculino, portadora de XGJ em sua forma macronodular benigna, sem lesões extracutâneas associadas, cujo diagnóstico foi baseado em achados clínicos, histopatológicos e imuno-patológicos. O motivo da apresentação se deve à raridade da doença, com destaque para importância da imuno-histoquímica na caracterização das células histiocíticas
Assuntos
Humanos , Lactente , Masculino , Xantogranuloma Juvenil/etiologia , Xantogranuloma Juvenil/fisiopatologia , Xantogranuloma Juvenil/terapiaRESUMO
OBJECTIVE: Juvenile xanthogranuloma (JXG) with systemic (extracutaneous) involvement is a rare histiocytic disorder in which significant morbidity and occasional deaths may occur. The objective of this study was to characterize the spectrum of anatomic involvement, associated clinical problems, and management considerations in children with systemic JXG. STUDY DESIGN: Two current cases and literature reports of 34 children with various forms of systemic AG were analyzed with respect to age, clinical presentation, site(s) of involvement, therapy, and outcome. RESULTS: The median age of the 36 patients was 0.3 years (range, birth to 12 years). Symptoms were usually referable to bulky or infiltrative disease. Twenty patients had disease in two or more sites. Cutaneous lesions were present in fewer than half the patients. The most frequent extracutaneous sites of disease were the subcutaneous soft tissue (12); central nervous system (8); liver/spleen (8); lung (6); eye/orbit, oropharynx, and muscle (4 each); with three or fewer instances of disease in each of several other sites. Most patients were treated with excision or had spontaneous regression (some with organ involvement). However, 12 patients received treatment that included radiation or systemic chemotherapy. Survivors, some with long-term disabilities, included young children who had received radiation therapy to the brain, eye, skin, or heart. Two patients died of disease. CONCLUSIONS: Systemic AG may involve varying numbers and combinations of extracutaneous sites. The extent of disease should be determined in patients with AG who are suspected to have systemic involvement. In contrast to the cutaneous form, systemic AG may be associated with significant complications requiring aggressive medical care. When feasible, surgical excision of lesions may be curative. Optimal treatment for symptomatic, unresectable disease is currently undefined but should be selected to minimize toxic effects in these children who are typically younger than 1 year old at presentation.