{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,20]],"date-time":"2024-07-20T07:13:53Z","timestamp":1721459633160},"reference-count":15,"publisher":"Scientific Scholar","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Secondary amyloidosis may complicate inherited dermatoses, but recessive dystrophic epidermolysis bullosa (RDEB) complicated by renal amyloidosis is rare. We report a case of a 12-year-old male child with RDEB presenting with progressive generalized anasarca for 20 days. Kidney biopsy showed diffuse expansion of mesangial matrix by pale acellular Periodic Acid-Schiff (PAS)-negative amorphous material, which was congophilic on Congo red stain and gave apple green birefringence on polarization and extending along the glomerular basement membrane, suggestive of amyloidosis. Genetic analysis showed a compound heterozygous pathogenic variant in the COL7A1 gene with autosomal recessive inheritance.<\/jats:p>","DOI":"10.4103\/ijn.ijn_26_21","type":"journal-article","created":{"date-parts":[[2023,8,13]],"date-time":"2023-08-13T14:00:08Z","timestamp":1691935208000},"source":"Crossref","is-referenced-by-count":0,"title":["Renal Amyloidosis in a Child with Recessive Dystrophic Epidermolysis Bullosa Due to a Novel Variant in COL7A1 Gene"],"prefix":"10.25259","author":[{"given":"Roshan","family":"Daniel","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Venerology and Leprosy, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lesa","family":"Dawman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Venerology and Leprosy, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritambhra","family":"Nada","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Venerology and Leprosy, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aravind","family":"Sekar","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Venerology and Leprosy, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahul","family":"Mahajan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venerology and Leprosy, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karalanglin","family":"Tiewsoh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Venerology and Leprosy, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2023,8,10]]},"reference":[{"key":"R1-20230813","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1111\/bjd.18921","article-title":"Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility","volume":"183","author":"Has","year":"2020","journal-title":"Br J Dermatol"},{"key":"R2-20230813","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1172\/JCI117783","article-title":"Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa","volume":"95","author":"Christiano","year":"1995","journal-title":"J Clin Invest"},{"key":"R3-20230813","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1046\/j.1365-2133.2002.04607.x","article-title":"The 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