Article information
Abstract
Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and retroauricular area. Histology was compatible with fibrofolliculoma and genetic study showed a pathogenic mutation of the folliculin gene.
Key words:
Birt-Hogg-Dubé syndrome
fibrofolliculoma
folliculin gene
Resumen
El síndrome de Birt-Hogg-Dubé es una genodermatosis de herencia autosómica dominantecaracterizada por la presencia de fibrofoliculomas, cáncer renal, quistes pulmonares y pneumotórax espontáneo. Recientemente ha sido identificado el gen FCLN, responsable de este proceso, localizado en el brazo corto del cromosoma 17. Presentamos el caso de un varón de 49 años, con múltiples pápulas blanquecinas en la cara, el cuello y el área retroauricular. La histología fue compatible con fibrofoliculoma y el estudio genético demostró una mutación patogénica en el gen FCLN.
Palabras clave:
síndrome de Birt-Hogg-Dubé
fibrofoliculoma
gen FCLN
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