Genitourinary Complications of Inherited Epidermolysis Bullosa: Experience of the National Epidermylosis Bullosa Registry and Review of the Literature

Fine, Jo David; Johnson, Lorraine; Weiner, Madeline; Stein, Amy; Cash, Sarah; DeLeoz, Joy; Devries, David T.; Suchindran, Chirayath

doi:10.1097/01.ju.0000143200.86683.2c

Cited by 75 publications

(86 citation statements)

References 15 publications

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“…No problems related to poor/delayed healing or abnormal scarring has been reported. Cases of symptomatic phimosis developing in adulthood, including some cases of acute urinary retention have been presented (1). A relationship between circumcision and meatal stenosis has been suggested by Cherif (5) and the constant exposure of the meatus to friction against the underwear could potentially predispose to meatal stenosis, perhaps advocating against routine circumcision in EB boys.…”

Section: B) the Cotton Bandage Was Covered By An Elastic Bandage Andmentioning

confidence: 99%

“…Urological complications from EB predominate in junctional EB (1). Common urological conditions may also affect those children.…”

Section: Introductionmentioning

confidence: 99%

“…Common urological conditions may also affect those children. Phimosis, specifically, is commoner in EB patients than in normal children, due to repetitive blistering and scarring of the prepuce (1).…”

Section: Introductionmentioning

confidence: 99%

“…There are four different types of hereditary epidermolysis bullosa (EB), with an incidence of almost 20/1000000 live births, all of them characterized by the extreme fragility of the skin and mucosae (1). Minimal trauma can lead to blistering and/or ulcerations that may complicate with secondary infections and scarring.…”

Section: Introductionmentioning

confidence: 99%

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Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia

et al. 2014

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ARTICLE INfO ______________________________________________________________ ______________________Epidermolysis bullosa (EB) is characterized by extreme fragility of the skin and mucosae. Anesthetic and surgical techniques have to be adapted to those children and routine practice may not be adequate. Urological problems are relatively common, but surgical techniques adapted to those children have not been well debated and only low evidence is available to this moment. Herein we discuss the specifics of anesthetic and surgical techniques chosen to treat a six year old EB male presenting with symptomatic phimosis.

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Section: B) the Cotton Bandage Was Covered By An Elastic Bandage Andmentioning

confidence: 99%

“…Urological complications from EB predominate in junctional EB (1). Common urological conditions may also affect those children.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia

et al. 2014

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“…All forms of DEB result from mutations of collagen type VII (Fine et al 2004), a major component of anchoring fibrils that tether the basement membrane and overlying epidermis to its dermal foundation (Cuesta-Estelles et al 1998;Farhi et al 2004). Several reports have described renal involvement complicating recessive DEB (Hogg et al 1994;Koyama et al 1995;Glazier and Zaonts 1998;Horn and Tidman 2002;Kaneko et al 2003;Mallipeddi et al 2003), including amyloidosis, IgA nephropathy, postinfectious glomerulonephritis, hereditary nephritis, and upper and lower urinary tract obstruction.…”

mentioning

confidence: 99%

IgA Nephropathy in a Patient with Dominant Dystrophic Epidermolysis Bullosa

Kawasaki

Isome

Takano

et al. 2008

Tohoku J. Exp. Med.

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Dystrophic epidermolysis bullosa (DEB) is a rare and severe hereditary dermatosis. On the other hand, IgA nephropathy is the most common form of glomerulonephritis in childhood and adults, and clinically characterized by microhematuria and proteinuria and histologically by deposition of immunoglobulin A in mesangial lesions. Several renal complications of recessive DEB including IgA nephropathy and amyloidosis have been reported. However, there have been no reports on dominant DEB associated with IgA nephropathy. We report here for the first time a 17-year-old girl with dominant DEB associated with IgA nephropathy. The patient has suffered from episodes of urinary, upper airway, and skin infections. At 17 years of age, proteinuria and hematuria were detected, with a high value of serum IgA. Renal biopsy was performed, and immunofluorescence microscopic examination revealed segmental deposits of IgA in mesangial lesions, with many glomeruli exhibiting diffuse segmental mesangial-proliferative glomerulonephritis. We diagnosed dominant DEB associated with IgA nephropathy on the basis of proteinuria, hematuria, and deposits of IgA in mesangial lesions on immunofluorescence microscopic examination, and diffuse segmental mesangial-proliferative glomerulonephritis. These findings suggest that repeated skin infections might have contributed to the pathogenesis of IgA nephropathy in this patient. dystrophic epidermolysis bullosa; IgA nephropathy; dominant; children.Tohoku

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Kidney–Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa

et al. 2022

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ImportanceKidney–urinary tract (KUT) manifestations cause substantial morbidity in patients with junctional epidermolysis bullosa (JEB), but the spectrum of disease severity and the clinical course have been poorly characterized.ObjectiveTo examine in a large cohort of patients with intermediate JEB the KUT manifestations, diagnostic and therapeutic procedures, genotype-phenotype correlations, and outcomes as a basis for recommendations, prognosis, and management.Design, Setting, and ParticipantsIn this retrospective, longitudinal case series study, 99 patients with a diagnosis of JEB based on clinical and genetic findings who were treated in a single dermatology department in Freiburg, Germany, were assessed during an 18-year period (January 1, 2003, to December 31, 2021). Clinical, laboratory, and molecular genetic parameters were extracted from patients’ medical records.Main Outcomes and MeasuresClinical characteristics, natural history, management of KUT manifestations, and genotype-phenotype correlations of intermediate JEB.ResultsOf the 183 patients with JEB, 99 (54%) had intermediate JEB and were included in this cohort. The cohort included 49 female patients and 50 male patients. None of 49 female patients and 15 of 50 male patients had KUT involvement affecting different levels of the urinary tract, resulting in a prevalence of 30% for males; thus, the overall prevalence was 15%. The mean age at onset of KUT manifestations was 6.9 years (range, first weeks of life to 20 years; age was not available for 1 patient). Median follow-up after diagnosis of KUT involvement was 13 years (range, 3 months to 54 years). Patients with laminin 332 or integrin β4 deficiency had at least 1 missense or splice site genetic variant, leading to residual expression of laminin 332 or integrin α6β4, respectively. Severity of KUT complications did not correlate with the extent of skin involvement but with the affected protein.Conclusions and RelevancePhysicians and patients with JEB should be aware of the risk for KUT involvement in intermediate JEB, and physicians should apply interdisciplinary and individualized diagnostic and therapeutic procedures for management of these complications. Because this disorder is so rare, multicenter studies are required to make general recommendations.

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Genitourinary Complications of Inherited Epidermolysis Bullosa: Experience of the National Epidermylosis Bullosa Registry and Review of the Literature

Cited by 75 publications

References 15 publications

Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia

Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia

IgA Nephropathy in a Patient with Dominant Dystrophic Epidermolysis Bullosa

Kidney–Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa

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