Novel missense mutation c.539A>G; p.Glu180Gly in keratin 1 causing epidermolytic ichthyosis

2021 ◽  
Author(s):  
Miho Sashikawa ◽  
Hidetoshi Tsuda ◽  
Mayumi Komine ◽  
Mamitaro Ohtsuki
Keyword(s):  
Missense Mutation ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1

scholarly journals Mosaic and Generalized Forms of Keratinopathic Ichthyoses

2020 ◽  
Author(s):  
Gianluca Tadini ◽  
Sophie Guez ◽  
Michela Brena
Keyword(s):  
Molecular Mechanisms ◽  
Missense Mutations ◽  
Mosaic Pattern ◽  
Frameshift Mutations ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1

Mutations in KRT1 (keratin 1) or KRT10 (keratin 10) underlie a spectrum of diseases known as keratinopathic ichthyoses. Epidermolytic ichthyosis (EI) is caused by heterozygous missense mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 (keratin 2) lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism. Epidermolytic ichthyosis is also present in a mosaic pattern known as epidermolytic (acantholytic) nevus, isolated or diffuse. In the latter case, gonadic involvement is possible, leading to a rare pedigree in which a parent with diffuse epidermolytic nevus (linear EI) gives birth to a child affected by EI. We present here an update on the phenotypic presentations of keratinopathic ichthyoses and their molecular mechanisms.

Management of Epidermolytic Ichthyosis in the Newborn

2016 ◽  
Vol 35 (1) ◽  
pp. 19-30 ◽  
Author(s):  
Mondell Avril ◽  
Cheryl Riley
Keyword(s):  
Multidisciplinary Approach ◽  
Autosomal Dominant ◽  
Ethical Issues ◽  
Successful Management ◽  
Newborn Period ◽  
Case Presentation ◽  
Bullous Disease ◽  
Epidermolytic Ichthyosis ◽  
Skin Fragility ◽  
Keratin 1

AbstractEpidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis that presents at birth as a bullous disease, followed by a lifelong ichthyotic skin disorder.1 Essentially, it is a defective keratinization caused by mutations of keratin 1 (KRT1) or keratin 10 (KRT10) genes, which lead to skin fragility, blistering, and eventually hyperkeratosis. Successful management of EI in the newborn period can be achieved through a thoughtful, directed, and interdisciplinary or multidisciplinary approach that encompasses family support. This condition requires meticulous care to avoid associated morbidities such as infection and dehydration. A better understanding of the disrupted barrier protection of the skin in these patients provides a basis for management with daily bathing, liberal emollients, pain control, and proper nutrition as the mainstays of treatment. In addition, this case presentation will include discussions on the pathophysiology, complications, differential diagnosis, and psychosocial and ethical issues.

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

2010 ◽  
Vol 162 (4) ◽  
pp. 875-879 ◽  
Author(s):  
M.C. Bolling ◽  
R.S. Bladergroen ◽  
M.A.M. Van Steensel ◽  
M. Willemsen ◽  
M.F. Jonkman ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1

Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10

2015 ◽  
Vol 41 (3) ◽  
pp. 290-293 ◽  
Author(s):  
A. Abdul-Wahab ◽  
T. Takeichi ◽  
L. Liu ◽  
C. Stephens ◽  
M. Akiyama ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Phenotypic Heterogeneity ◽  
Epidermolytic Ichthyosis

scholarly journals Epidermolytic ichthyosis without keratin 1 or 10 mutations: A case report

2018 ◽  
Vol 6 (1) ◽  
pp. 36
Author(s):  
AhmedM Abdelaal ◽  
AliA Al Raddadi ◽  
TahaH Habibullah ◽  
AngieM Felimban ◽  
HosamA Al Raddadi ◽  
...  
Keyword(s):  
Case Report ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1

scholarly journals A case of annular epidermolytic ichthyosis resulting from a de novo mutation, p.I479T, in Keratin 1 Gene

2021 ◽  
Vol 66 (2) ◽  
pp. 224
Author(s):  
Xiaoqing Zhao ◽  
Lihong Chen ◽  
Cheng Quan ◽  
Jie Zheng ◽  
Meng Pan
Keyword(s):  
De Novo ◽  
De Novo Mutation ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1

Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10

2018 ◽  
Vol 17 (1) ◽  
pp. 82-84
Author(s):  
Marvin Kuske ◽  
Katja Berndt ◽  
Giada Meinel ◽  
Susanne Abraham ◽  
Vinzenz Oji ◽  
...  
Keyword(s):  
Missense Mutation ◽  
De Novo ◽  
Epidermolytic Ichthyosis

scholarly journals A novel mutation resulting in keratin 1–linked palmoplantar keratoderma with epidermolytic ichthyosis

2020 ◽  
Vol 6 (10) ◽  
pp. 1085-1087
Author(s):  
Taylor Gray ◽  
Christopher White ◽  
Maheera Farsi ◽  
Joseph Dyer ◽  
Richard Miller
Keyword(s):  
Novel Mutation ◽  
Palmoplantar Keratoderma ◽  
Epidermolytic Ichthyosis ◽  
Keratin 1
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