Ectopic penis is usually associated with penoscrotal transposition, and it is rarely observed in isolation. We report a surgical approach for an extremely rare case. A 10-year-old male patient with bilateral cryptorchidism and ectopic penis and scrotum in perineal area, with no penoscrotal transposition, representing an association not yet described in literature. A previous orchiopexy failed due to ectopic scrotum. By means of an inverted Y incision, the penis was mobilized and a perineal skin flap in form of a testicular sac was prepared. Finally orchiopexy was performed. The surgery was essential to treat cryptorchidism and to improve the self-image of the patient.
Objective: To describe two cases of Fabry disease (FD) from the same family nucleus associated with Membranous Nephropathy (MN) and Systemic Lupus Erythematosus (SLE). Case report: We present an index case of a 61-year-old man with nephrotic syndrome and FD (c.1046G>C p.W349S) and his daughter with systemic lupus erythematosus. Appropriate diagnosis based on renal biopsy allowed to conclude that it was, in fact, a primary membranous glomerulopathy caused by the formation of autoantibody against phospholipase A2 receptor and a class V nephritis, respectively, in the index case and his daughter, associated to glycosphingolipid inclusions in renal cells with areas of podocyte effacement. Final considerations: Although FD diagnosis be performed by biochemical and molecular tests, a detailed analysis of the kidney biopsy is essential to diagnose the coexistence of FD and autoimmune diseases, thus allowing a more adequate treatment.
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