RESUMEN
Proteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of different tissues. Prognosis of affected patients may be complicated by premature death, mostly due to pulmonary embolism and respiratory failure. To date, immunological data in Proteus syndrome are scarse.We report on the novel immunologic findings of a 15 years old girl affected with PS. Detailed T and B cell evaluation revealed maturational alterations for both subsets and functional hyperactivation for the latter. Such findings have not been reported previously in PS and may be the spy of more complex immune abnormalities in this syndrome.
Asunto(s)
Síndrome de Proteo/diagnóstico , Síndrome de Proteo/inmunología , Adolescente , Linfocitos B/inmunología , Femenino , Humanos , Síndrome de Proteo/complicaciones , Embolia Pulmonar/diagnóstico , Embolia Pulmonar/etiología , Embolia Pulmonar/inmunología , Linfocitos T/inmunologíaRESUMEN
A 10 year old boy with Proteus syndrome presented with a pericardial effusion of unknown aetiology. Immunological investigation revealed low serum IgG and IgA, accompanied by low levels of specific antibodies to pneumococcal and haemophilus type B polysaccharides. Circulating lymphocyte surface marker profile revealed T and B cell lymphopenia. This is the first report of hypogammaglobulinaemia occurring in the Proteus syndrome.
Asunto(s)
Agammaglobulinemia/complicaciones , Linfopenia/complicaciones , Derrame Pericárdico/etiología , Síndrome de Proteo/complicaciones , Agammaglobulinemia/sangre , Agammaglobulinemia/inmunología , Niño , Humanos , Inmunoglobulina G/sangre , Linfopenia/sangre , Linfopenia/inmunología , Masculino , Derrame Pericárdico/inmunología , Síndrome de Proteo/sangre , Síndrome de Proteo/inmunologíaRESUMEN
Proteus syndrome (PS) is a congenital disorder manifesting with severe deformities, the salient features being gigantism and vascular tumors. The disorder is poorly understood, and there has been much discrepancy in the terminology regarding the vascular tumors in PS. The purpose of this study was to elucidate the histogenesis of these tumors by correlating microscopic observations with immunohistologic information. The value of immunoperoxidase studies in the pathologic evaluation of PS was also assessed. Fourteen formalin-fixed, paraffin-embedded tissue specimens obtained from vascular tumors of six children with PS were stained with Ulex europaeus agglutinin I (UEA-I) lectin and the following immunohistochemical reagents: anti-factor VIII-related antigen (FVIII-RAg) and anti-CD34. The tumors showed varied proportions of vascular, lipomatous, and fibrous tissue components consistent with vascular hamartomas. The predominant vascular channels of the tumors were morphologically consistent with lymphatic vessels. Immunostaining of the endothelium of these vessels was most consistently positive with UEA-I lectin. Although a color reaction product was present in small vessels and some larger blood vessels, anti-CD34 immunostaining spared the lumens of lymphatic channels. In addition, a striking population of dendritic spindle cells was noted with the anti-CD34 but was unnoticed with the other reagents. We concluded that the vascular tumors of PS are primarily lymphatic hamartomas. The spindle cells noted with anti-CD34 immunostaining may relate to angiogenesis and need further delineation.