SDR9C7 missense variant in a Chihuahua with non‐epidermolytic ichthyosis [PDF]
Animal Genetics, 2023 Ichthyoses represent a heterogeneous group of cornification disorders that are associated with skin barrier defects. We investigated a 9-month-old Chihuahua showing excessive scale formation.
Sarah Kiener +4 more
semanticscholar +5 more sources
Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report. [PDF]
Clin Case RepWe present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 ...
Smits E +4 more
europepmc +3 more sources
Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis. [PDF]
Dermatology Online Journal, 2021 Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent ...
P. Putra, S. Radiono, Retno Danarti
semanticscholar +5 more sources
Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis [PDF]
Animal Genetics, 2023 Ichthyoses are a group of heritable cornification disorders. Various different subtypes are known and they can be classified based on the genetic background and underlying molecular mechanisms (GutiérrezCerrajero et al., 2023).
Sarah Kiener +4 more
semanticscholar +5 more sources
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases [PDF]
Acta Dermato-VenereologicaInherited 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 +7 more
doaj +2 more sources
Superficial epidermolytic ichthyosis [PDF]
Definitions, 2020 Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.
semanticscholar +3 more sources
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis [PDF]
Pediatric Investigation, 2023 Importance Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.
Zhou Yang +5 more
doaj +2 more sources
Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin [PDF]
British Journal of DermatologyBACKGROUND No efficient treatment has been established yet for epidermolytic ichthyosis (EI) caused by pathogenic variants in KRT1 or KRT10. Patients with ichthyosis with confetti (IWC) show multiple normal-appearing spots, caused by the revertant ...
Kana Tanahashi +8 more
semanticscholar +4 more sources
Bullying in Children With Congenital Ichthyosis. [PDF]
Pediatr DermatolABSTRACT Background/Objectives Bullying of children with chronic disorders is associated with an increased risk of depression, anxiety, poor self‐esteem, and suicidal ideation. Congenital ichthyoses are genodermatoses with extensive visible scaling and inflammation.
Rustad AM +6 more
europepmc +2 more sources
Epidermolytic ichthyosis complicated by staphylococcal scalded skin syndrome in the newborn.
Dermatology Online Journal, 2022 Epidermolytic ichthyosis is characterized by erythema and blistering at birth. We present a neonate with epidermolytic ichthyosis who had a subtle change in clinical findings while hospitalized, including increased fussiness, erythema, and a change in ...
G. Peck, K. Flood, K. Marathe
semanticscholar +5 more sources