Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases

1989 ◽  
Vol 125 (7) ◽  
pp. 931-938 ◽  
Author(s):  
J. D. Fine
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Neuromuscular Diseases ◽  
Epidermolysis Bullosa Simplex ◽  
Dystrophic Epidermolysis Bullosa ◽  
Phenotypic Features

Autosomal recessive epidermolysis bullosa simplex: report of three cases from India

2017 ◽  
Vol 42 (7) ◽  
pp. 800-803 ◽  
Author(s):  
V. K. Yenamandra ◽  
K. V. Shamsudheen ◽  
R. C. Madhumita ◽  
J. Rijith ◽  
V. Ankit ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Epidermolysis Bullosa Simplex

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

2014 ◽  
Vol 172 (2) ◽  
pp. 527-531 ◽  
Author(s):  
T. Takeichi ◽  
A. Nanda ◽  
L. Liu ◽  
S. Aristodemou ◽  
J.R. McMillan ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Founder Mutation ◽  
Epidermolysis Bullosa Simplex

scholarly journals Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex

2015 ◽  
Vol 24 (11) ◽  
pp. 3155-3162 ◽  
Author(s):  
Katarzyna B. Gostyńska ◽  
Miranda Nijenhuis ◽  
Henny Lemmink ◽  
Hendri H. Pas ◽  
Anna M.G. Pasmooij ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Epidermolysis Bullosa Simplex

scholarly journals Intrafamilial Diversity of Clinical Severity in Dominant Dystrophic Epidermolysis Bullosa: Case Series of Three Generations

2019 ◽  
Vol 13 (1) ◽  
pp. 3-7
Author(s):  
Inne Arline Diana ◽  
Srie Prihianti Gondokaryono ◽  
Reiva Farah Dwiyana ◽  
July Iriani Rahardja ◽  
Yuri Yogya ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Case Series ◽  
Clinical Severity ◽  
Dystrophic Epidermolysis Bullosa ◽  
Tissue Separation ◽  
Three Generations ◽  
Unknown Gene ◽  
Main Observation

Background: Epidermolysis bullosa, a group of inheritable blistering diseases with considerable clinical and genetic diversity, is divided into distinct subtypes depending on the level of tissue separation in the dermal–epidermal basement membrane zone. The dystrophic form of epidermolysis bullosa (DEB) is characterized by tense blisters and erosions which heals with extensive scarring. The fact that DEB can be inherited in either autosomal dominant (DDEB) or autosomal recessive (RDEB) pattern adds to its clinical diversity. The cause of marked clinical diversity in mild to severe DDEB is still unidentified. Main Observation: We report an intrafamilial diversity of clinical severity in dominant dystrophic epidermolysis bullosa (DDEB) cases within three generations. Conclusion: We emphasize the variety of clinical severity in DDEB cases within three generations which might be caused by unknown gene modifiers and environmental factors.

Sign in / Sign up

Export Citation Format

Share Document