Results 21 to 30 of about 1,421 (196)

From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response [PDF]

JAAD International
Alexandra Carla Bobica, MSc, MD, Sarah Moussa, MD, Lydia Ouchene, MD, Megha Udupa, MD, Hessah BinJadeed, MBBS, Rahaf Bashihab, MBBS, Zuzanna Misiewicz, PhD, Laura Grönroos, MSc, Julie Powell, MD, May Chergui, MD, Tania Cruz Marino, MD, PhD, William D. Foulkes, MBBS, PhD, Elena Netchiporouk, MD, MSc   +12 more
doaj   +3 more sources

A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis [PDF]

Clinical Case Reports, 2020
Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.
Francesca Caroppo, Elena Cama, Roberto Salmaso, Cinzia Bertolin, Leonardo Salviati, Anna Belloni Fortina   +5 more
doaj   +2 more sources

Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10. [PDF]

Br J Dermatol, 2014
Lamb RC, Lang J, Terron-Kwiatowski A, Baty D, McLean WH, Zamiri M.   +5 more
europepmc   +6 more sources

Ichthyosis [PDF]

Nature Reviews Disease Primers, 2023
[EN]The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation.
, Masashi, Angela Hernandez-Martin
exaly   +3 more sources

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report [PDF]

Frontiers in Immunology
Ichthyoses, a group of skin cornification disorders caused by protein and lipid abnormalities that disrupt epidermal functions, are mainly characterized by generalized scaling.
Wenjie Cheng, Wenjie Cheng, Wenjie Cheng, Chaolan Pan, Chaolan Pan, Chaolan Pan, Zhe Sun, Zhe Sun, Zhe Sun, Peiyi Sun, Peiyi Sun, Peiyi Sun, Jiawen Li, Jiawen Li, Jiawen Li, Zhirong Yao, Zhirong Yao, Zhirong Yao, Xiaoxiao Wang, Xiaoxiao Wang, Xiaoxiao Wang, Jia Zhang, Jia Zhang, Jia Zhang   +23 more
doaj   +2 more sources

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

Indian Journal of Dermatology, 2021
We report a case of annular epidermolytic ichthyosis (AEI) resulting from de novo keratin 1 gene mutation. AEI is a rare autosomal dominantly inherited cornification disorder and is a distinct phenotypic variant of bullous congenital ichthyosiform ...
Lihong Chen, Cheng Quan, Jie Zheng, Meng Pan, Xiaoqing Zhao   +4 more
doaj   +2 more sources

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases [PDF]

Acta Dermato-Venereologica
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen   +7 more
doaj   +2 more sources

Systematized epidermolytic epidermal nevus (ichthyosis hystrix) [PDF]

Scripta Scientifica Medica, 2015
Ichthyosis hystrix is a term used to describe an autosomal dominant rare form of an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales. We present a healthy 22-year-old man with lesions which clinically and histopathologically
Guleva, Dimitrina, Kazandjieva, Jana, Márina, Sonya, Semkova, Kristina   +3 more
core   +4 more sources

Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review. [PDF]

Am J Case Rep, 2022
Almuqarrab FJ, Alakloby OM, Alqahtani JM, Hennies HC.   +3 more
europepmc   +2 more sources

Visualization of Keratin with Diffuse Reflectance and Autofluorescence Imaging and Nonlinear Optical Microscopy in a Rare Keratinopathic Ichthyosis [PDF]

Sensors, 2021
Keratins are one of the main fluorophores of the skin. Keratinization disorders can lead to alterations in the optical properties of the skin. We set out to investigate a rare form of keratinopathic ichthyosis caused by KRT1 mutation with two different ...
Pálma Anker, Luca Fésűs, Norbert Kiss, Judit Noll, Krisztina Becker, Enikő Kuroli, Balázs Mayer, Szabolcs Bozsányi, Kende Lőrincz, Ilze Lihacova, Alexey Lihachev, Marta Lange, Norbert Wikonkál, Márta Medvecz   +13 more
doaj   +3 more sources