GENITOURINARY COMPLICATIONS OF INHERITED EPIDERMOLYSIS BULLOSA: EXPERIENCE OF THE NATIONAL EPIDERMYLOSIS BULLOSA REGISTRY AND REVIEW OF THE LITERATURE
2004; Lippincott Williams & Wilkins; Volume: 172; Issue: 5 Linguagem: Inglês
10.1097/01.ju.0000143200.86683.2c
ISSN1527-3792
AutoresJo‐David Fine, Lorraine Johnson, Madeline Weiner, Amy Stein, Sarah Cash, Joy DeLeoz, David T. Devries, Chirayath Suchindran,
Tópico(s)Genetic and rare skin diseases.
ResumoNo AccessJournal of UrologyInvestigative Urology1 Nov 2004GENITOURINARY COMPLICATIONS OF INHERITED EPIDERMOLYSIS BULLOSA: EXPERIENCE OF THE NATIONAL EPIDERMYLOSIS BULLOSA REGISTRY AND REVIEW OF THE LITERATURE JO-DAVID FINE, LORRAINE B. JOHNSON, MADELINE WEINER, AMY STEIN, SARAH CASH, JOY DeLEOZ, DAVID T. DEVRIES, and CHIRAYATH SUCHINDRAN JO-DAVID FINEJO-DAVID FINE , LORRAINE B. JOHNSONLORRAINE B. JOHNSON , MADELINE WEINERMADELINE WEINER , AMY STEINAMY STEIN , SARAH CASHSARAH CASH , JOY DeLEOZJOY DeLEOZ , DAVID T. DEVRIESDAVID T. DEVRIES , and CHIRAYATH SUCHINDRANCHIRAYATH SUCHINDRAN View All Author Informationhttps://doi.org/10.1097/01.ju.0000143200.86683.2cAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: We determined the frequency with which 6 genitourinary tract complications (urethral meatal stenosis, urinary retention, bladder hypertrophy, hydronephrosis secondary to ureteral strictures, pyelonephritis and cystitis) occur in inherited epidermolysis bullosa (EB) in the American EB population. Materials and Methods: Up to 16 years of longitudinal followup was done in 3,280 consecutively enrolled patients in the National EB Registry, a National Institutes of Health funded epidemiological study covering the entire continental United States. Data were stratified by major EB type and subtype. Frequencies of occurrence were determined for each of 6 genitourinary tract variables and stratified into 10 mutually exclusive, major EB subtypes. Results: Urinary tract complications occurred in a minority of patients across all major EB subtypes with the highest frequency seen in Herlitz junctional EB (JEB-H). Urethral meatus stenosis was the most common complication, occurring in 11.6% and 8.0% of patients with JEB-H and Hallopeau-Siemens recessive dystrophic EB (RDEB), respectively. Urinary retention, hydronephrosis and bladder hypertrophy occurred in 9.3%, 7.0% and 4.6% of JEB-H cases, respectively. In contrast, pyelonephritis and cystitis were most often seen in the setting of generalized EB simplex (Koebner variant) and inversa RDEB. Conclusions: The urinary tract may be involved in any subtype of inherited EB, although these complications usually arise in patients with the most severe subtypes of junctional and recessive dystrophic disease. Chronic surveillance for the presence of genitourinary tract disease activity is warranted, especially in patients with JEB and RDEB, given the potential for longterm kidney injury if untreated. References 1 : Bullous eruptions. In: Textbook of Dermatology, 6th ed. Edited by . Oxford, United Kingdom: Blackwell Science1998: 1817. Google Scholar 2 : Clinicopathologic types of epidermolysis bullosa and their nondermatological complications. Arch Dermatol1988; 124: 718. Google Scholar 3 : Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry. Baltimore: Johns Hopkins University Press1999: 520. Google Scholar 4 : Histopathologic and ultrastructural findings in certain genodermatoses. Clin Dermatol1985; 3: 143. Google Scholar 5 : Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol2000; 42: 1051. Google Scholar 6 : The National Epidermolysis Bullosa Registry. J Invest Dermatol1994; 102: 54S. Google Scholar 7 : Epidermolysis bullosa. Application of epidemiologic principles to the study of a group of rare diseases via a disease registry. Dermatol Clin1995; 13: 659. Google Scholar 8 : Rare disease registries—lesions learned from the National Epidermolysis Bullosa Registry. J Rare Dis1996; 2: 5. Google Scholar 9 : The epidemiology of inherited EB: findings within American, Canadian, and European study populations. In: Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry. Edited by . Baltimore: Johns Hopkins University Press1999: 101. Google Scholar 10 : Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol1991; 24: 119. Google Scholar 11 : The National Epidermolysis Bullosa Registry: organization, goals, methodologic approaches, basic demography, and accomplishments. In: Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry. Edited by . Baltimore: Johns Hopkins University Press1999: 79. Google Scholar 12 : Urinary tract involvement in epidermolysis bullosa. Pediatrics1973; 51: 938. Google Scholar 13 : The urological manifestations of epidermolysis bullosa. J Urol1986; 136: 1320. Link, Google Scholar 14 : Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. Pediatr Dermatol1986; 3: 130. Google Scholar 15 : Epidermolysis bullosa of the bladder. AJR Am J Roentgenol2001; 177: 1486. Google Scholar 16 : Epidermolysis bullosa dystrophica with urinary tract involvement. J Pediatr Surg1984; 19: 215. Google Scholar 17 : Epidermolysis bullosa junctionalis associated with urinary bladder exstrophy: a case report. Pediatr Dermatol1995; 12: 239. Google Scholar 18 : Management of urinary tract in children with epidermolysis bullosa. Urology1992; 40: 137. Google Scholar 19 : Junctional epidermolysis bullosa with urethral stricture. Dermatologica1987; 175: 244. Google Scholar 20 : Genital complication of epidermolysis bullosa. Clin Pediatr1983; 22: 443. Google Scholar From the Department of Medicine (Dermatology), Vanderbilt University School of Medicine (J-DF), Nashville, Tennessee, National Epidermolysis Bullosa Registry (J-DF, LBJ, MW, AS, SC, JDL, DTD), and Departments of Epidemiology (JDF), Public Health Nursing (LBJ), Dermatology (LBJ, MW, AS, SC, JDL) and Biostatistics (CS), University of North Carolina at Chapel Hill, Chapel Hill, North Carolina© 2004 by American Urological Association, Inc.FiguresReferencesRelatedDetails Volume 172Issue 5November 2004Page: 2040-2044 Advertisement Copyright & Permissions© 2004 by American Urological Association, Inc.Keywordsurinary tractepidermolysis bullosagene expressionurogenital systemepidemiologyMetricsAuthor Information JO-DAVID FINE More articles by this author LORRAINE B. JOHNSON More articles by this author MADELINE WEINER More articles by this author AMY STEIN More articles by this author SARAH CASH More articles by this author JOY DeLEOZ More articles by this author DAVID T. DEVRIES More articles by this author CHIRAYATH SUCHINDRAN More articles by this author Expand All Advertisement PDF DownloadLoading ...
Referência(s)