IgA Nephropathy in a Patient with Dominant Dystrophic Epidermolysis Bullosa

Abstract

Dystrophic epidermolysis bullosa (DEB) is a rare and severe hereditary dermatosis. On the other hand, IgA nephropathy is the most common form of glomerulonephritis in childhood and adults, and clinically characterized by microhematuria and proteinuria and histologically by deposition of immunoglobulin A in mesangial lesions. Several renal complications of recessive DEB including IgA nephropathy and amyloidosis have been reported. However, there have been no reports on dominant DEB associated with IgA nephropathy. We report here for the first time a 17-year-old girl with dominant DEB associated with IgA nephropathy. The patient has suffered from episodes of urinary, upper airway, and skin infections. At 17 years of age, proteinuria and hematuria were detected, with a high value of serum IgA. Renal biopsy was performed, and immunofluorescence microscopic examination revealed segmental deposits of IgA in mesangial lesions, with many glomeruli exhibiting diffuse segmental mesangial-proliferative glomerulonephritis. We diagnosed dominant DEB associated with IgA nephropathy on the basis of proteinuria, hematuria, and deposits of IgA in mesangial lesions on immunofluorescence microscopic examination, and diffuse segmental mesangial-proliferative glomerulonephritis. These findings suggest that repeated skin infections might have contributed to the pathogenesis of IgA nephropathy in this patient. dystrophic epidermolysis bullosa; IgA nephropathy; dominant; children.Tohoku

Immunoglobulin A Nephropathy in Association with Generalized Inflammatory Peeling Skin Syndrome

“…Molecular mimicry, resulting in immune complex formation, could explain the well‐recognized association between episodes of visible hematuria and mucocutaneous infections in IgA nephropathy . Recurrent purulent cutaneous infections that occurred in our patient due to loss of the protective skin barrier could have led to IgA nephropathy .…”

Hla Typing in Epidermolysis Bullosa Patients: Relevancy to Gluten Sensitivity

“…With respect to IgAN, several case reports have populated the literature describing case of recessive DEB patients diagnosed of this renal pathology. [5,6,15]. IgAN is a glomerular disease characterized by prevalent mesangial IgA deposits, frequently is associated with macroscopic haematuria at level of mucosal infections [16,17].…”

Secondary IgA Nephropathy and IgA-Associated Nephropathy: A Systematic Review of Case Reports

“…Pathological specimens sent for biopsy confirmed IgAN. After treatment, which included steroids, the renal ailments were resolved [ 49 ].…”