Inherited epidermolysis bullosa and the risk of death from renal disease: Experience of the National Epidermolysis Bullosa Registry

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

doi:10.1016/s0272-6386(04)00935-7

Cited by 56 publications

(19 citation statements)

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“…Chronic renal failure, the result of poststreptococcal glomerulonephritis or renal amyloidosis, occurs within this RDEB subtype, and may eventually lead to death in about 12% [59]. A low but real risk of potentially fatal dilated cardiomyopathy (4.5% cumulative risk by age 20, 30% of whom eventually die of this complication) exists in patients with severe generalized RDEB.…”

Section: Clinical Descriptionmentioning

confidence: 99%

Inherited epidermolysis bullosa

Fine

2010

Orphanet J Rare Dis

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Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, respectively. Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Each EB subtype is known to arise from mutations within the genes encoding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis. EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis. Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB subtype and the overall health of the patient.

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Section: Clinical Descriptionmentioning

confidence: 99%

Inherited epidermolysis bullosa

Fine

2010

Orphanet J Rare Dis

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220

193

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“…In our patient, without overt clinical symptoms/signs suggesting renal dysfunction, the diagnosis of this complication was greatly delayed, a situation that could be avoided if the patient had been in a tighter follow-up plan. It is recommended that a nephro-urological surveillance should be part of the routine evaluation from childhood EB [11]. In this sense, there are currently no published guidelines on how to monitor these patients.…”

Section: Discussionmentioning

confidence: 99%

End Stage Renal Disease in a Child with Epidermolysis Bullosa

Cavagnaro¹,

Yubero²,

Valenzuela³

et al. 2016

IJCM

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Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes. In severe cases, EB may be associated with renal damage through several mechanisms, mainly immunological ones. The present case described a young male with dystrophic recessive EB who developed an advanced chronic renal damage secondary to tubulointerstitial nephritis that was demonstrated by a renal biopsy. Unpublished previously, this complication should be considered among the possible causes of renal damage in EB. Also it is recommended a protocoled surveillance of renal and urinary tract complications in children with EB.

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“… 35 , 36 Children with RDEB, severe generalized are at an increased risk of glomerulonephritis, renal amyloidosis, IgA nephropathy, and cardiomyopathy. 37 , 38 Notably, patients have a high likelihood of developing aggressive squamous cell carcinoma ( Figure 1D ). 39 Patients rarely survive beyond age 30, due to severe renal complications or aggressive squamous cell carcinoma.…”

Section: Clinical Features Of Dystrophic Epidermolysis Bullosamentioning

confidence: 99%

Dystrophic epidermolysis bullosa: a review

Shinkuma¹

2015

CCID

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Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and malignancy. The disease is usually diagnosed by immunofluorescence mapping and/or transmission electron microscopy and subsequently subclassified into one of 14 subtypes. This review provides practical knowledge on the disease, including new therapeutic strategies.

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Inherited epidermolysis bullosa and the risk of death from renal disease: Experience of the National Epidermolysis Bullosa Registry

Cited by 56 publications

References 0 publications

Inherited epidermolysis bullosa

Inherited epidermolysis bullosa

End Stage Renal Disease in a Child with Epidermolysis Bullosa

Dystrophic epidermolysis bullosa: a review

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