GSE107462 Patients with Congenital Ichthyosis and TGM1 Mutations Overexpress Other ARCI Genes in the Skin: Part of a Barrier Repair Response?
Contributors : Hanqian Zhang ; Maja Ericsson ; Simone Westr öm ; Anders Vahlquist ; Marie Virtanen ; Hans TörmäSeries Type : Expression profiling by arrayOrganism : Homo sapiensAutosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of monogenic skin disorders caused by mutations in any of>10 different genes, many of which are involved in epidermal synthesis of ω-O-acylceramides (acylCer), an essential precursor of the corneocyte lipid envelope that is also dependent on transglutaminase-1 for normal skin barrier formation. We hypothesized that inactivating TGM1 mutations, the most common cause of ARCI, might lead to a compensatory overexpression of tran scripts involved in barrier repair, including ARCI-causing genes. Using microarray we examined the global mRNA expression profile in skin biopsies from five ARCI-patients with TGM1 mutations and four healthy controls. There were a total of 602 differentially expressed genes (adjusted P
Condition: Congenital Ichthyosis Interventions: Drug: Isotretinoin; Other: Vehicle Sponsor: Timber Pharmceuticals LLC Not yet recruiting
We present a rare case of Lamellar Ichthyosis with bilateral ectropion with left sided corneal ulcer with descemetocele in a four-month-old female child, the youngest ever reported. Ichthyosis is a group of skin disorders characterized by the presence of fish-like scales all over the body, . Lamellar Ichthyosis is a rare congenital condition with incidence of 1 in 1000003, affecting males and females equally. Inheritance is Autosomal Recessive3. It involves generalized body as a collodion baby at birth; once the membrane sheds, patient develops large, thick, brown, pasted scales associated with ectropion, eclabium, s...
Keratitis-ichthyosis-deafness (KID) syndrome is a severe, untreatable condition characterized by ocular, auditory and cutaneous abnormalities, with major complications of infection and skin cancer. 86% of cases are caused by a heterozygous missense mutation (c.148G>A, p.D50N) in the GJB2 gene, encoding gap junction protein connexin 26 (Cx26), which alters gating properties of Cx26 channels in a dominant manner. We hypothesized that a mutant-allele-specific siRNA (AS-siRNA) could rescue the cellular phenotype in patient keratinocytes.
Pathogenic variants in NDUFAF3 leading to mitochondrial complex I deficiency are associated with a variety of phenotypes often leading to mortality at an early age. Ichthyosis vulgaris is caused by FLG gene loss-of-function variant. Ichthyosis vulgaris renders increased risk of environmental toxin/irritant exposures causing secondary disease due to impaired functional barrier.
The patient is an 18-year-old male with genetically confirmed ichthyosis (KRT10 gene mutation), who presented with atopic findings at age 12 and subsequently developed severe persistent asthma, eosinophilic esophagitis, and multiple anaphylactic food allergies.
Dermokine is a chiefly skin-specific secreted glycoprotein localized in the upper epidermis and its family consists of three splice variants in mice and five in humans. To investigate the pathophysiological impact of dermokine, we generated mice deficient for two ( βγ) or all dermokine isoforms (αβγ). Both variants, especially dermokine αβγ-deficient mice exhibited scale and wrinkle formation resembling ichthyosis accompanied by transepidermal water imbalance at the neonatal stage. When reared under low humidity several dermokine αβγ-deficient mice died by postnatal day 21.
This study aimed to establish the consequences for localization and intermediate filament formation of altered keratin 10 (K10) C-termini. To achieve this, plasmids expressing distinct KRT10 variants were generated. Sequences encoded all possible reading frames of the K10 C-terminus as well as a nonsense variant. A keratinocyte line was transfected with these plasmids. Additionally, gene editing was utilized to introduce frameshift variants in exon 6 and exon 7 at the endogenous KRT10 locus. Cellular localization of aberrant K10 was observed via immunofluorescence using various antibodies. In each setting, immunofluorescen...
CONCLUSION: This case illustrates the severity of iatrogenic effects secondary to misuse of topical corticosteroids in NS as well as the need to find effective new treatments for this syndrome. PMID: 31653452 [PubMed - as supplied by publisher]
PMID: 31633189 [PubMed - as supplied by publisher]