Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa

Woodley, David T.; Cogan, Jon; Mosallaei, Daniel; Yim, Kaitlyn; Chen, Mei

doi:10.1016/j.jdermsci.2021.09.006

Cited by 4 publications

(2 citation statements)

References 34 publications

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“…Patients with RDEB‐I develop clinical lesions where their skin is warmest (e.g. axillary, gluteal, groin) and a temperature‐dependent pathophysiological mechanism has recently been confirmed 17 . Type VII collagen resulting from specific RDEB‐I mutations exhibit reduced thermostability in vitro , and show susceptibility to protease digestion and reduced formation of collagen trimers.…”

Section: Discussionmentioning

confidence: 99%

“…axillary, gluteal, groin) and a temperature-dependent pathophysiological mechanism has recently been confirmed. 17 Type VII collagen resulting from specific RDEB-I mutations exhibit reduced thermostability in vitro, and show susceptibility to protease digestion and reduced formation of collagen trimers. This leads to increased Type VII collagen destabilization when a temperature threshold is passed and clinically, to pronounced blistering at warmer body sites, such as the ears and mucosal surfaces.…”

Section: Discussionmentioning

confidence: 99%

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Otological complications in inversa type recessive dystrophic epidermolysis bullosa

Robertson

Prodinger

Liu

et al. 2022

Clinical and Experimental Dermatology

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Background. The rare inversa subtype of recessive dystrophic epidermolysis bullosa (RDEB-I) is characterized by predominant intertriginous skin blistering and marked mucosal involvement. Specific recessive missense mutations in the collagen VII triple helix are implicated in the disease. To date, otological complications have been reported infrequently in this patient group. Methods. We conducted an observational, retrospective, double institution case record review of patients with RDEB-I who presented with otological complications between January 2000 and June 2020. Diagnosis was established on the basis of clinical features, family history and mutation analysis of the COL7A1 gene. Results. In total, 11 (44%) of 25 patients with RDEB-I in our database (2 paediatric, 9 adult; mean age 40.9 years, range 8-72 years) experienced otological complications. Of these 11 patients, 10 (90.9%) had recurrent otitis externa, 7 (63.6%) had meatal stenosis and 7 (63.6%) had recurrent blistering of the external auditory canals. All 11 patients reported hearing difficulties, with conductive hearing loss confirmed by audiology testing in 6 (54.5%) of these. Of the 11 patients, 3 (27.3%) went on to have implantable hearing aids [2 bone-anchored hearing aids (BAHA) and 1 middle ear implant (MEI)] fitted with favourable outcome, while a fourth paediatric patient presented with a cholesteatoma that was surgically managed. Discussion. We observed a higher prevalence of otological morbidity in RDEB-I than previously reported, and present the first case of cholesteatoma in epidermolysis bullosa (EB). Our data indicate that BAHA and MEI are safe and effective treatment options for hearing loss in EB. Clinicians should be vigilant in screening for ear symptoms in RDEB-I and consider early referral to an Ear, Nose and Throat specialist.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Otological complications in inversa type recessive dystrophic epidermolysis bullosa

Robertson

Prodinger

Liu

et al. 2022

Clinical and Experimental Dermatology

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Epidermólisis ampollosa hereditaria

Chiaverini

2024

EMC - Dermatología

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Dystrophic epidermolysis bullosa: genotype-phenotype correlations

Kubanov,

Chikin,

Karamova

2023

Vestnik dermatologii i venerologii

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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

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Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa

Cited by 4 publications

References 34 publications

Otological complications in inversa type recessive dystrophic epidermolysis bullosa

Otological complications in inversa type recessive dystrophic epidermolysis bullosa

Epidermólisis ampollosa hereditaria

Dystrophic epidermolysis bullosa: genotype-phenotype correlations

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