Pretibial dystrophic epidermolysis bullosa associated with aberrant exon splicing of type VII collagen

Richey, Patricia M.; Holt, Melia Hernandez; Crotts, Sydney B.; Jabbari, Ali

doi:10.1016/j.jdcr.2019.06.032

Cited by 2 publications

(7 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…While topical or systemic corticosteroids or topical immunomodulators are appropriate first‐line therapies, phototherapy, etretinate, cyclosporine, thalidomide, naltrexone, and dupilumab have also been reported for PT‐DEB 1,2 . Transplantation of genetically modified epidermal stem cells and gene expression repair by spliceosome‐mediated RNA trans‐splicing has also showed promising results 4 …”

Section: Discussionmentioning

confidence: 99%

“…The presence of lichenoid and prurigo‐like lesions and excoriations, often without intact bullae, may lead to misdiagnosis and thus inadequate treatment. The differential diagnosis of PT‐DEB includes bullous lichen planus, lichen planus pemphigoides, bullous lichen sclerosus et atrophicus, prurigo nodularis, and lichen simplex chronicus 1,2 . Patients must be monitored for the potential development of squamous cell carcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…The differential diagnosis of PT-DEB includes bullous lichen planus, lichen planus pemphigoides, bullous lichen sclerosus et atrophicus, prurigo nodularis, and lichen simplex chronicus. 1,2 Patients must be monitored for the potential development of squamous cell carcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…PT-DEB is caused by mutations of the COL7A1 gene (encoding for type VII collagen) that alters the anchoring structure at the dermo-epidermal junction. 1,2 Diagnosis of PT-DEB is often difficult, but can be established with clinical, histological, ultrastructural, and immunofluorescence findings and genetic testing. Currently, denaturing high-performance liquid chromatography is used to characterize COL7A1 mutations.…”

Section: Introductionmentioning

confidence: 99%

“…Clinically, PT‐DEB is a typically mild and localized form of DEB, mainly affecting the pretibial region, with early‐ or late‐onset trauma‐induced blisters and erosions and frequent pruritic lichenoid or prurigo‐like papules and plaques with milia and nail dystrophy. PT‐DEB is caused by mutations of the COL7A1 gene (encoding for type VII collagen) that alters the anchoring structure at the dermo‐epidermal junction 1,2 …”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Dominant pretibial dystrophic epidermolysis bullosa in an Italian family

Vaccaro

Guarneri

et al. 2020

Pediatric Dermatology

View full text Add to dashboard Cite

We describe a case of pretibial dystrophic epidermolysis bullosa in a 5-year-old girl, her mother, and maternal great aunt. All subjects had trauma-induced blisters and erosions, with scarring, on the knees and lower legs, and nail dystrophy of variable severity. Genetic analysis in all three patients showed a 6849del18 mutation in the COL7A1 gene, causing the production of shortened collagen VII polypeptides and resulting in a mild phenotype, with localized acral blisters and nail involvement.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Dominant pretibial dystrophic epidermolysis bullosa in an Italian family

Vaccaro

Guarneri

et al. 2020

Pediatric Dermatology

View full text Add to dashboard Cite

show abstract

Dystrophic epidermolysis bullosa: genotype-phenotype correlations

Kubanov,

Chikin,

Karamova

2023

Vestnik dermatologii i venerologii

View full text Add to dashboard Cite

Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical manifestations and genetic defects underlying in the development of the disease. A systematic literature search was performed using PubMed and RSCI, and keywords including dystrophic epidermolysis bullosa, collagen VII, COL7A1. The review includes description of clinical findings of dystrophic epidermolysis bullosa. The types and localization of pathogenic mutations of the COL7A1 gene, their influence on the protein synthesis, structure and functioning are characterized. The correlation between severe course of dystrophic epidermolysis bullosa and mutations resulting in premature termination codons generation which associate with the absence of type VII collagen at the dermo-epidermal junction has been described. Nevertheless, genotype-phenotype correlations should be analyzed carefully due to mechanisms which enable to restore protein expression as well as the possibility of the formation of premature termination codons associated with a more severe course of the disease, when replacing nucleotides in case of their influence on splicing. Keywords: dystrophic epidermolysis bullosa; COL7A1, collagen VII, hinge region, glycine substitutions

show abstract

Pretibial dystrophic epidermolysis bullosa associated with aberrant exon splicing of type VII collagen

Cited by 2 publications

References 6 publications

Dominant pretibial dystrophic epidermolysis bullosa in an Italian family

Dominant pretibial dystrophic epidermolysis bullosa in an Italian family

Dystrophic epidermolysis bullosa: genotype-phenotype correlations

Contact Info

Product

Resources

About