Results 51 to 60 of about 371 (141)

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

Ichthyoses, a group of skin cornification disorders caused by protein and lipid abnormalities that disrupt epidermal functions, are mainly characterized by generalized scaling.
Chaolan Pan, Chaolan Pan, Chaolan Pan, Jia Zhang, Jia Zhang, Jia Zhang, Jiawen Li, Jiawen Li, Jiawen Li, Peiyi Sun, Peiyi Sun, Peiyi Sun, Wenjie Cheng, Wenjie Cheng, Wenjie Cheng, Xiaoxiao Wang, Xiaoxiao Wang, Xiaoxiao Wang, Zhe Sun, Zhe Sun, Zhe Sun, Zhirong Yao, Zhirong Yao, Zhirong Yao   +23 more
core   +1 more source

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in <i>KRT2</i>. [PDF]

Int J Mol Sci, 2022
Suzuki Y, Takeichi T, Tanahashi K, Muro Y, Suga Y, Ogi T, Akiyama M.   +6 more
europepmc   +1 more source

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. [PDF]

Ital J Pediatr, 2022
Serra G, Memo L, Cavicchioli P, Cutrone M, Giuffrè M, La Torre ML, Schierz IAM, Corsello G.   +7 more
europepmc   +1 more source

Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings [PDF]

Superficial epidermolytic ichthyosis (SEI), a type of keratinopathic ichthyosis (KPI) caused by mutations in the K2e gene, is clinically characterized by superficial blistering, hyperkeratosis predominantly involving flexures and joints, Mauserung ...
Bela Padhiar, Pooja Shah
core   +1 more source

Case Report: Recessive Dystrophic Epidermolysis Bullosa With Severe Esophageal Stenosis: A Case Report and Literature Review. [PDF]

Br J Biomed Sci, 2022
Xu Z, Huang T, Pan M, Huang Y, Jiang Y.
europepmc   +1 more source

Preneoplasias cutáneas y de mucosa oral [PDF]

, 2018
Este trabajo hace foco sobre aquellas dermatosis que pueden dar origen a tumores. Enfatiza el reconocimiento de las mismas a partir del examen clínico y de los métodos de laboratorio que aseveran ese diagnóstico.
Driban, Nelson E., Galdeano, F., Poljak, María Luisa   +2 more
core  

Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review. [PDF]

Orphanet J Rare Dis, 2023
Fournier H, Calcagni N, Morice-Picard F, Quintard B.   +3 more
europepmc   +1 more source

The role of MBTPS2 in epidermal proliferation and differentiation - [PDF]

, 2015
Thesis. M.Sc. American University of Beirut. Department of Biochemistry and Molecular Genetics. Faculty of Medicine 2015. W 4 B193r 2015Advisor: Dr. Mazen Kurban, Associate Professor, Department of Biochemistry and Molecular Genetics.
Ballout, Farah Rabih,
core  

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform. [PDF]

Hum Genome Var, 2023
Liu Y, Mao L, Huang H, Li W, Man J, Zhang W, Wang L, Li L, Sun Y, Zhai T, Guo X, Du L, Huang J, Li H, Wan Y, Wei X.   +15 more
europepmc   +1 more source

Ichthyoses-A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation. [PDF]

Dermatopathology (Basel), 2021
Metze D, Traupe H, Süßmuth K.
europepmc   +1 more source