Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex

1989 ◽  
Vol 281 (1) ◽  
pp. 5-10 ◽  
Author(s):  
Y. Kitajima ◽  
S. Inoue ◽  
H. Yaoita
Keyword(s):  
Intermediate Filaments ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Cultured Keratinocytes ◽  
Keratin Intermediate Filaments

Cultured keratinocytes from plectin/HD1-deficient epidermolysis bullosa simplex showed altered ability of adhesion to the matrix

2000 ◽  
Vol 24 (3) ◽  
pp. 184-189 ◽  
Author(s):  
Koichiro Kurose ◽  
Osamu Mori ◽  
Hiroshi Hachisuka ◽  
Hiroshi Shimizu ◽  
Katsushi Owaribe ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Cultured Keratinocytes ◽  
The Matrix

scholarly journals Damaged Keratin Filament Network Caused by KRT5 Mutations in Localized Recessive Epidermolysis Bullosa Simplex

2021 ◽  
Vol 12 ◽  
Author(s):  
Fuying Chen ◽  
Lei Yao ◽  
Xue Zhang ◽  
Yan Gu ◽  
Hong Yu ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Mapk Signaling ◽  
Epidermolysis Bullosa Simplex ◽  
Protein Levels ◽  
Keratin 5 ◽  
Keratin Filament ◽  
Filament Network ◽  
Keratin Intermediate Filaments ◽  
Desmosomal Protein

Epidermolysis bullosa simplex (EBS) is a blistering dermatosis that is mostly caused by dominant mutations in KRT5 and KRT14. In this study, we investigated one patient with localized recessive EBS caused by novel homozygous c.1474T > C mutations in KRT5. Biochemical experiments showed a mutation-induced alteration in the keratin 5 structure, intraepidermal blisters, and collapsed keratin intermediate filaments, but no quantitative change at the protein levels and interaction between keratin 5 and keratin 14. Moreover, we found that MAPK signaling was inhibited, while desmosomal protein desmoglein 1 (DSG1) was upregulated upon KRT5 mutation. Inhibition of EGFR phosphorylation upregulated DSG1 levels in an in vitro model. Collectively, our findings suggest that this mutation leads to localized recessive EBS and that keratin 5 is involved in maintaining DSG1 via activating MAPK signaling.

scholarly journals Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
M. Marro ◽  
S. De Smet ◽  
D. Caldari ◽  
C. Lambe ◽  
S. Leclerc-Mercier ◽  
...  
Keyword(s):  
Intensive Care ◽  
Epidermolysis Bullosa ◽  
Neonatal Intensive Care ◽  
Nutrition Support ◽  
Epidermolysis Bullosa Simplex ◽  
Withdrawal Time ◽  
Multicentric Study ◽  
Nasogastric Tubes ◽  
Mucosal Involvement ◽  
Enteral Nutrition Support

Abstract Introduction Severe epidermolysis bullosa simplex (EBS sev) is a rare genodermatosis characterized by congenital generalized blistering and mucosal involvement. Increased needs and decreased intake quickly lead to nutritional imbalance. Enteral nutrition support is proposed, but classical nasogastric tubes are not well tolerated in these patients and gastrostomy is preferred. Objective and methods To report the experience with EBS sev in neonatal units of French reference centers for gastrostomy. In this retrospective multicentric study, we included all patients with EBS sev who had gastrostomy placement before age 9 months during neonatal care hospitalization. Results Nine infants (5 males/4 females) with severe skin and mucosal involvement were included. A gastrostomy was decided, at an early age (mean 3.7 months, range 1.4 to 8 months) in infants with mean weight 4426 g (range 3500 to 6000 g). Techniques used were endoscopy with the pull technique for 5 infants and surgery under general anesthesia for 4. Main complications were local but resolved after treatment. All infants gained weight after gastrostomy. The mean withdrawal time (n = 7) for the gastrostomy was 35.8 months (range 10.5 months to 6.5 years). Seven children had persistent oral disorders. Conclusions Gastrostomy in infants with EBS sev can be necessary in neonatal intensive care units. Both surgical and endoscopic pull techniques seem efficient, with good tolerance.

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