Recessive dystrophic epidermolysis bullosa complicated with nephrotic syndrome due to secondary amyloidosis


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Abstract

A 15-year-old young woman had a history of recurrent blisters and erosions on her whole body and oral mucosa since birth. There were patchy areas of cicatricial alopecia on the scalp and flaccid blisters and erosions on the back, buttocks, and distal portions of the extremities (Fig. 1). Mitten-hand deformity was observed on the hands and feet (Fig. 2). The mobility of the tongue was limited due to fibrosis of the frenulum. Dental and ocular examinations were normal. Her mother and father were first-degree relatives and no other relatives were known to have blistering disorders.Skin biopsy specimens were stained with periodic acid-Schiff (PAS) and antilaminin, anticollagen IV antibodies by indirect immunohistochemistry. There was a separation between the epidermis and dermis. Regular linear homogeneous staining of the basement membrane with PAS was observed between the epidermis and the roof of the bullae (Fig. 3). While laminin immunoreactivity was positive irregularly in the lamina lucida, deposition of collagen IV was observed as a homogeneous sheet in the lamina densa. Both the positive immunoreactivities for laminin and collagen IV were at the roof of the bullae. There was an inflammatory reaction in the dermis and within the bullae.Hematologic and biochemical tests revealed anemia (hemoglobin 8.3 g/dL, hematocrit 28.5%, ferritin 12.7 ng/mL), hypoalbuminemia (2.12 g/dL), and proteinuria (2016 mg/24 h). Creatinine clearance was 9 mL/min. Rectal biopsy was negative for amyloidosis; the diagnosis of amyloidosis was established by means of renal biopsy (Fig. 4). Immunohistochemical staining showed amyloid A type amyloid deposits in the renal glomerulus. Staphylococcus aureus grew frequently in skin cultures.Topical antiseptic dressings were applied and systemic antibiotics were used for secondary bacterial infection. Vitamin E (200 IU/day) and phenytoin (5 mg/kg/day) were administered with little success. Only protein replacement therapy could be administered for secondary amyloidosis and nephrotic syndrome because of renal impairment. The patient is still under the control of the Departments of Dermatology and Nephrology.

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