K14 degradation and ageing in epidermolysis bullosa simplex due to KLHL24 gain-of-function mutations

2022 ◽  
Author(s):  
Mathilde C.S.C. Vermeer ◽  
Herman H.W. Sillje ◽  
Hendri H. Pas ◽  
Daniela Andrei ◽  
Peter van der Meer ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Gain Of Function

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.

A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex

1999 ◽  
Vol 141 (4) ◽  
pp. 747-748 ◽  
Author(s):  
Sasaki ◽  
Shimizu ◽  
Akiyama ◽  
Hiraoka ◽  
Takizawa ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 14

scholarly journals Novel keratin 5 mutation in a family with epidermolysis bullosa simplex

2015 ◽  
Vol 10 (6) ◽  
pp. 2432-2436
Author(s):  
JIAJIA GAO ◽  
XUEBIN WANG ◽  
FANG ZHENG ◽  
SUFANG DONG ◽  
XUEPING QIU
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

scholarly journals Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

2003 ◽  
Vol 21 (4) ◽  
pp. 447-447 ◽  
Author(s):  
Petra H.L. Schuilenga-Hut ◽  
Pieter v.d. Vlies ◽  
Marcel F. Jonkman ◽  
Esm� Waanders ◽  
Charles H.C.M. Buys ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Novel Mutations ◽  
Keratin 5
Sign in / Sign up

Export Citation Format

Share Document