Background: Although it is known that renal amyloidosis may complicate several dermatoses, recessive dystrophic epidermolysis bullosa (RDEB) complicated by nephropathy has been thought to be rare. We, however, had seen a young adult with RDEB who died of renal failure due to systemic amyloidosis. Objective: A retrospective study was performed in order to investigate the incidence and etiology of renal amyloidosis in RDEB. Methods: Routine urinalysis, serum amyloid A protein (SAA) and creatinine levels were repeatedly determined in 11 patients with RDEB (mean age 17.7 years, range 5–28, 7 males, 4 females). Nephropathy was defined as the presence of both proteinuria and hematuria with red blood cell casts. Results: Seven out of 9 generalized RDEB patients had nephropathy including 3 cases with end-stage renal disease (2 died within 2 years from the onset of nephropathy), while 2 patients with localized RDEB did not. Levels of SAA were significantly higher in patients with nephropathy than those in patients without nephropathy (p < 0.05). Conclusion: Nephropathy is a common and serious complication of RDEB. Renal amyloidosis may play an important role in its etiology. We recommend that patients with RDEB should be periodically screened for nephropathy due to amyloidosis by urinalysis and measuring SAA levels.

Keywords:
Recessive dystrophic epidermolysis bullosa, Nephropathy, Amyloidosis, Serum amyloid A protein
1.
Fine JD: Bullous diseases: Nonautoimmune bullous disorder, inherited epidermolysis bullosa; in Moschella S, Hurley HJ (eds): Dermatology, ed 3. Philadelphia, Saunders Co, 1992, pp 681–698.
2.
Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J: Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. J Clin Invest 1995;95:1328–1334.
3.
Browstein MH, Helwig EB: Systemic amyloidosis complicating dermatoses. Arch Dermatol 1970;102:1–7.
4.
Ridley CM, Levy IS: Epidermolysis bullosa and amyloidosis: A case report. Trans St John Hosp Dermatol Soc 1968;54:75–82.
5.
Malaga S, Fernandez Toral J, Santos F, Riesgo I, Crespo M: Renal amyloidosis complicating a recessive epidermolysis bullosa in childhood. Helv Paediatr Acta 1983;38:167–170.
6.
Yi S, Naito M, Takahasi K, Nogami R, Maekawa Y, Arao T: Complicating systemic amyloidosis in dystrophic epidermolysis bullosa, recessive type. Pathology 1988;20:184–187.
7.
Mann JFE, Zeier M, Zilow E, Scharer K, Anton-Lamprecht I, Waldherr R, Andrassy K, Ritz E: The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: Report of two cases. Am J Kidney Dis 1988;11:437–441.
8.
Bourke JF, Browne G, Gaffney EF, Young M: Fatal systemic amyloidosis (AA type) in two sisters with dystrophic epidermolysis bullosa. J Am Acad Dermatol 1995;33:370–372.
9.
De Beer FC, Mallya RK, Fagan EA, Lanham JG, Hughes GRV, Pepys MB: Serum amyloid: A concentration in inflammatory diseases and its relationship to the incidence of reactive systemic amyloidosis. Lancet 1982;ii:231–234.
10.
Kaneko K, Suzuki Y, Watanabe H, Fukuda Y, Yabuta K: Membranoproliferative glomerulonephritis in a child with liver cirrhosis. Nephron 1995;69:102–103.
11.
Nephrology forum: Familial Mediterranean fever and amyloidosis. Kidney Int 1981;20:676–685.
© 2000 S. Karger AG, Basel
2000
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.