Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical study

Ito, M.

doi:10.1001/archderm.127.3.367

Cited by 12 publications

(3 citation statements)

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“…The phenotype of these mice strongly hinted that EBS could indeed arise from mutations affecting the protein-coding sequence of either K14 or K5 (Vassar et al , 1991). This possibility was further supported by publications that had described defects in keratin IF network architecture in basal keratinocytes from individuals with EBS, in the epidermis in situ (Anton-Lamprecht, 1983; Haneke and Anton-Lamprecht, 1982; Ito et al , 1991) as well as in ex vivo culture (Kitajima et al , 1989). Such mutations were indeed found shortly thereafter, initially in K14 (Bonifas et al , 1991; Coulombe et al , 1991a) and later on in K5 (Lane et al , 1992), in the genome of individuals with EBS.…”

Section: Early 90’s: a Function For Keratin Filaments And A Promisingmentioning

confidence: 66%

Defining Keratin Protein Function in Skin Epithelia: Epidermolysis Bullosa Simplex and Its Aftermath

Coulombe

Lee

2012

Journal of Investigative Dermatology

110

105

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Epidermolysis bullosa simplex (EBS) is a rare genetic condition typified by superficial bullous lesions following incident frictional trauma to the skin. Most cases of EBS are due to dominantly-acting mutations in keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins that co-polymerize to form a pan-cytoplasmic network of 10nm filaments in basal keratinocytes of epidermis and related epithelia. Defects in K5–K14 filament network architecture cause basal keratinocytes to become fragile, and account for their rupture upon exposure to mechanical trauma. The discovery of the etiology and pathophysiology of EBS was intimately linked to the quest for an understanding of the properties and function of keratin filaments in skin epithelia. Since then, continued cross-fertilization between basic science efforts and clinical endeavors has highlighted several additional functional roles for keratin proteins in the skin, suggested new avenues for effective therapies for keratin-based diseases, and expanded our understanding of the remarkable properties of skin as an organ system.

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Section: Early 90’s: a Function For Keratin Filaments And A Promisingmentioning

confidence: 66%

Defining Keratin Protein Function in Skin Epithelia: Epidermolysis Bullosa Simplex and Its Aftermath

Coulombe

Lee

2012

Journal of Investigative Dermatology

110

105

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“…, 1991 ). Further, other researchers had previously reported on anomalies in the organization of keratin IFs in the basal epidermal keratinocytes of EBS patients ( Anton-Lamprecht, 1983 ; Ito et al. , 1991 ) or in cultures of epidermal keratinocytes established from EBS patients ( Kitajima et al.…”

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confidence: 99%

Discovery of keratin function and role in genetic diseases: the year that 1991 was

Coulombe

2016

MBoC

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In 1991, a set of transgenic mouse studies took the fields of cell biology and dermatology by storm in providing the first credible evidence that keratin intermediate filaments play a unique and essential role in the structural and mechanical support in keratinocytes of the epidermis. Moreover, these studies intimated that mutations altering the primary structure and function of keratin filaments underlie genetic diseases typified by cellular fragility. This Retrospective on how these studies came to be is offered as a means to highlight the 25th anniversary of these discoveries.

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“…The precise aetiology of EB is poorly understood, but recent data have suggested that anomalies in cytokeratin expression (Ishida-Yamamoto et al, 1991;Ito et al, 1991;Bonifas et al, 1992), increased gelatinase activity (GeddeDahl and Anton-Lamprecht, 1990), and abnormal glutamine pyruvate transferase activity (Savolainen et al, 1981) may be involved in the case of EB simplex. Some forms of EB dystrophica have been linked to a defect in the gene for Type VII collagen (Ryynanen et al, 1992;Uitto et al, 1994), which may explain the abnormalities associated with anchoring filaments in these patients Eady, 1984, 1985;Bruckner-Tuderman et al, 1989).…”

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confidence: 99%

The Chemical Composition of Tooth Enamel in Recessive Dystrophic Epidermolysis Bullosa: Significance with Respect to Dental Caries

et al. 1996

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Previous reports have linked the prevalence of tooth abnormalities with high caries experience in the different types of epidermolysis bullosa (EB). However, it is not known to what extent the apparent susceptibility to enamel caries is due to disease-related altered enamel chemistry in these cases. The aim of this study was to characterize the enamel of teeth from patients suffering from recessive epidermolysis bullosa dystrophica (rEBD) in terms of its mineral content, carbonate content, protein content, and amino acid composition. The results showed that dental enamel from these patients was essentially normal in terms of its chemistry. It is therefore concluded that the high caries experience in recessive dystrophic epidermolysis bullosa patients is probably related to other factors, such as compromised oral hygiene and prolonged oral clearance due to extensive oral soft tissue damage and a cariogenic diet.

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Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical study

Cited by 12 publications

References 0 publications

Defining Keratin Protein Function in Skin Epithelia: Epidermolysis Bullosa Simplex and Its Aftermath

Defining Keratin Protein Function in Skin Epithelia: Epidermolysis Bullosa Simplex and Its Aftermath

Discovery of keratin function and role in genetic diseases: the year that 1991 was

The Chemical Composition of Tooth Enamel in Recessive Dystrophic Epidermolysis Bullosa: Significance with Respect to Dental Caries

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