Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature

• Published in: Saudi journal of kidney diseases and transplantation Vol. 30; no. 6; pp. 1450 - 1456
• Main Authors: Pınarbaşı, Ayşe, Dursun, Ismail, Daldaban, Burcu, Günay, Neslihan, Çiçek, Sümeyra, Şahin, Nihal, Yel, Sibel, Poyrazoglu, Muammer, Akgün, Hülya, Düşünsel, Ruhan
• Format: Journal Article
• Language: English
• Published: Saudi Arabia Wolters Kluwer India Pvt. Ltd 01-11-2019; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt. Ltd; Wolters Kluwer Medknow Publications
• Subjects: Abdomen; Amyloidosis; Anakinra; Anemia; Biopsy; Canakinumab; Case reports; Catheters; Edema; Epidermolysis bullosa; Family medical history; Genetic aspects; Kidney diseases; Laboratories; Liver; Microscopy; Mutation; Nephrotic syndrome; Patients; Respiratory system; Skin; Urinary tract diseases; Urinary tract infections; Urogenital system
• ISSN: 1319-2442; 2320-3838
• DOI: 10.4103/1319-2442.275492

Epidermolysis bullosa (EB) encompasses a clinically and genetically heterogeneous group of rare inherited diseases characterized by marked mechanical fragility of epithelial tissues with blistering and erosions following minor trauma. Amyloidosis is one of the most important complications of EB mostly seen in recessive dystrophic EB (RDEB) patients and can involve the kidney, bowel, liver, and also respiratory system. Herein, we present a child, who is probably the youngest case of genetically diagnosed RDEB, complicated with amyloidosis reported in literature. A 6-year-old boy who was diagnosed with EB was referred to our center with nephrotic-range proteinuria and hypoalbuminemia. He had homozygous mutation in COL7A1 gene. Kidney biopsy was remarkable for amyloidosis with positive Congo red staining, and amyloid fibrils were seen on electron microscopy. Although he did not have any symptoms of autoimmune diseases and mutation in the MEFV gene, he was given colchicine because of positive family history for familial Mediterranean fever and amyloidosis.