Bullying in Children With Congenital Ichthyosis. [PDF]
Pediatr DermatolABSTRACTBackground/ObjectivesBullying 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 +4 more sources
Congenital ichthyosis in a Maltese dog: A case report [PDF]
Veterinární Medicína, 2021 This case report describes congenital ichthyosis in a Maltese dog, a condition, which has not previously been reported in this breed. The dog presented with several dry, tightly adhering scales showing a multi-focal appearance.
Kim TS +5 more
doaj +2 more sources
CYP4F22-Related Autosomal Recessive Congenital Ichthyosis: Clinical Presentation. [PDF]
Cureus, 2022 Autosomal recessive congenital ichthyosis (ARCI) is a group of hereditary, nonsyndromic disorders of keratinization. ARCI encompasses several different clinical presentations and is caused by various genetic mutations. Commonly, ARCI presents with a taut,
Dumenigo A, Rusk A, Marathe K.
europepmc +2 more sources
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. [PDF]
Ital J Pediatr, 2022 Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma.
Serra G +7 more
europepmc +2 more sources
Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis. [PDF]
Int J Mol Sci, 2022 Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the formation and normal functioning of a lipid barrier, lead to the development of autosomal recessive congenital ichthyosis (ARCI).
Chulpanova DS +5 more
europepmc +2 more sources
Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy. [PDF]
Front Genet, 2022 Uniparental disomy (UPD) is a rare genetic event caused by errors during gametogenesis and fertilization leading to two copies of a chromosome or chromosomal region inherited from one parent.
Zhang L +9 more
europepmc +2 more sources
Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance. [PDF]
Mol Syndromol, 2021 The term autosomal recessive congenital ichthyosis (ARCI) is the subgroup of ichthyosis, which describes a highly heterogeneous group of genetic disorders of the skin characterized by cornification and defective keratinocytes differentiation associated ...
Ahmad F +12 more
europepmc +2 more sources
Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease
Вопросы современной педиатрии, 2022 Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases caused by pathogenic changes in more than 50 genes.
Nikolay N. Murashkin +3 more
doaj +2 more sources
DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects [PDF]
BMC Veterinary Research, 2022 Background Ichthyosis describes a localized or generalized hereditary cornification disorder caused by an impaired terminal keratinocyte differentiation resulting in excessive stratum corneum with the formation of more or less adherent scales. Ichthyosis
Irene M. Häfliger +6 more
doaj +2 more sources
Indian Journal of DermatologyBackground: Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature.
Rahul Mahajan +5 more
doaj +2 more sources