Dystrophic epidermolysis bullosa. A new variant characterized by progressive symmetrical centripetal involvement with scarring

Fine, Jo David

doi:10.1001/archderm.121.8.1014

Cited by 9 publications

(5 citation statements)

References 17 publications

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“…In the setting of this mode of transmission, it may prove fatal within early infancy. Other rare RDEB subtypes include pretibial RDEB, RDEB pruriginosa, and RDEB centripetalis [61], the latter of which is characterized by cutaneous disease activity which begins acrally and then progressively spreads toward the trunk over decades.…”

Section: Clinical Descriptionmentioning

confidence: 99%

Inherited epidermolysis bullosa

Fine

2010

Orphanet J Rare Dis

220

193

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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

220

193

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“…The finding of others of two bands identified by antibody to type VII collagen on immunoblots from skin of a patient with RDEB inversa (27] is suggestive of proteolysis, which could be a feature of the disease or secondary to it. It will be of interest to determine whether metabolically labeled type VII collagen from other RDEB patients or from patients with the inversa and centripetalis forms ofRDEB who also appear to have alterations in type VII collagen [14,28,29] differs from that of our patient.…”

Section: Resultsmentioning

confidence: 99%

Normal Molecular Weight of Type VII Collagen Produced by Recessive Dystrophic Epidermolysis Bullosa Keratinocytes

Jenison¹,

Fine²,

Gammon³

et al. 1993

Journal of Investigative Dermatology

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Studies of the recessive dystrophic form of epidermolysis bullosa (RDEB) have suggested that an abnormality in type VII collagen may be involved in the pathogenesis of this disorder. Indirect immunofluorescence studies have shown that the staining for type VII collagen along the dermal-epidermal junction is markedly reduced or absent in all but rare cases of severe, generalized RDEB. These findings imply that the genetic defect may involve type VII collagen but do not exclude the possibility that the alterations demonstrated are secondary, for example, to nonspecific proteolysis of type VII collagen. To evaluate the ability of cells of affected patients to produce type VII collagen, we cultured keratinocytes from a severely affected patient and immunoprecipitated type VII collagen from the cells. Keratinocytes were metabolically labelled with 35S-methionine, and solubilized cell extracts were reacted with antibody to type VII collagen. The results indicate that the patient's keratinocytes synthesize type VII collagen and that the M(r) of the protein synthesized does not differ from that of an unaffected control. Because cultured cells from a patient severely affected with recessive dystrophic epidermolysis bullosa produce type VII collagen, the genetic defect, at least in this patient, is unlikely to reside in a major truncation of the type VII collagen molecule.

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“…Electron microscopy shows that the site of formation of the blisters is under the basal lamina, similar to that observed in the other variants of EBdr. The pathophysiologyof blister fragility in this disorder is not yet known, but it is probable that an excessive collagénase is one of the main pathophysiologic events in some of the diseases of the heterogeneous EBdr group [9][10][11], Because of the possible role of collagenase in EBdr, therapeutic attempts have been directed toward the reduction of the expression of this enzyme [12][13][14]. Clinical improvement has been reported in patients affected by EBdr of the HallopeauSiemens type with phenytoin [13], even though a new multicentric study failed to show any therapeutic benefit [15].…”

Section: Discussionmentioning

confidence: 99%

Dystrophic Epidermolysis bullosa inversa: A Case Report

Polenghi

Pigatto

et al. 1990

Dermatology

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The inverse form of recessive dystrophic epidermolysis bullosa is a rare genodermatosis characterized by a smouldering course of integumental blistering with improvement of lesions in adulthood, preferential localizations of lesions in flexural areas, severe oral and esophageal mucosal involvement and nail dystrophy. We describe a 41-year-old patient showing all the typical features of this form of epidermolysis bullosa. Ultrastructural findings in specimens obtained from perilesional and healthy skin were similar to those usually observed in the Hallopeau-Siemens form of epidermolysis bullosa. The patient has been treated with phenytoin for a period of 9 months with considerable improvement of the skin manifestations.

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Dystrophic epidermolysis bullosa. A new variant characterized by progressive symmetrical centripetal involvement with scarring

Cited by 9 publications

References 17 publications

Inherited epidermolysis bullosa

Inherited epidermolysis bullosa

Normal Molecular Weight of Type VII Collagen Produced by Recessive Dystrophic Epidermolysis Bullosa Keratinocytes

Dystrophic Epidermolysis bullosa inversa: A Case Report

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