RESUMEN
Erdheim-Chester disease (ECD) is a form of non-Langerhans histiocytosis. In this report, we show a case of ECD presenting diabetes insipidus and multiple xanthogranulomas received glucocorticoid treatment over a year. During this period, xanthogranulomas improved in response to the glucocorticoid therapy. Furthermore, the expression of osteopontin in xanthogranulomatous tissues significantly decreased following the treatment. Our data show the expression of osteopontin in xanthogranulomatous tissues of ECD. Furthermore, the osteopontin mRNA decreased following glucocorticoid therapy with xanthogranuloma regression, suggesting that the expression level of osteopontin could be a marker of the disease activity of ECD.
Asunto(s)
Enfermedad de Erdheim-Chester/tratamiento farmacológico , Enfermedad de Erdheim-Chester/genética , Granuloma/tratamiento farmacológico , Proteínas Asociadas a Microtúbulos/genética , Proteínas de Neoplasias/genética , Osteopontina/genética , Prednisolona/uso terapéutico , Xantomatosis/tratamiento farmacológico , Adulto , Femenino , Estudios de Seguimiento , Expresión Génica/efectos de los fármacos , Glucocorticoides/uso terapéutico , Granuloma/genética , Humanos , Proteínas Inhibidoras de la Apoptosis , Reacción en Cadena de la Polimerasa , Survivin , Xantomatosis/genéticaRESUMEN
BACKGROUND: The histological resemblance between extramammary Paget disease and Bowen disease has been described since Bowen's original article was published in 1912. METHODS: We herein describe a case of vulval primary extramammary Paget disease in a 61-year-old women with the histological features of Bowen disease. RESULTS: Histological examination of a biopsy specimen showed acanthosis with full-thickness cellular atypia, focal hyperkeratosis and parakeratosis in the epidermis, and no characteristic Paget cells were observed. However, histological examination of an operative specimen revealed areas characteristic of Paget disease and Bowen disease. Overall, the areas characteristic of Bowen disease and Paget disease occupied 6% and 32% of the total operative specimen, respectively. The two areas were sharply separated. Immunohistochemical findings showed carcinoembryonic antigen to be expressed in areas containing Paget cells, but not in the areas characteristic of Bowen disease. Cytokeratin 7 (CK7) (OV-TL 12/30) and CK8 (35betaH11) were strongly expressed in both of these areas. The staining for high-molecular-weight cytokeratins was negative in both of these areas. CONCLUSIONS: Our findings indicated that primary extramammary Paget disease and squamous cell carcinoma in situ arose multifocally from a common cell in the epidermis.