Congenital ichthyosis associated with Trichophyton rubrum tinea, imitating drug hypersensitivity reaction
Publication date: Available online 29 May 2020Source: Medical Mycology Case ReportsAuthor(s): Eszter Szlávicz, Csongor Németh, Éva Szepes, Csaba Gyömörei, Rolland Gyulai, Zsuzsanna Lengyel
LE, Alba-Rojas E PMID: 32627836 [PubMed - as supplied by publisher]
The severe form of harlequin ichthyosis is often lethal in the perinatal period, and it is commonly a product of consanguineous parents. Therefore, in vitro fertilization and pregenetic diagnosis are recommended to avoid the recurrence of the error. AbstractThe severe form of harlequin ichthyosis is often lethal in the perinatal period, and it is commonly a product of consanguineous parents. Therefore, in vitro fertilization and pregenetic diagnosis are recommended to avoid the recurrence of the error.
ConclusionWe identified two novel microdeletions in the X chromosome leading to KS and XLI. These findings contribute to the understanding of the molecular mechanisms that drive contiguous gene syndromes. Our research confirmed that the Kallmann-Ichthyosis phenotype is caused by microdeletions at the chromosome level.
Abstract Chromosomal rearrangements, such as duplications/deletions, can lead to a variety of genetic disorders. Herein, we reported a prenatal case with right aortic arch and aberrant left subclavian artery, consisting of a complex chromosomal copy number variations. Routine cytogenetic analysis described the chromosomal karyotype as 46,XY, add (2)(q37) for the fetus. However, the chromosomal microarray analysis (CMA) identified a 22.4 Mb duplication in chromosome 4p16.3p15.2, a 3.96 Mb microduplication in 12p11.1q11, and a 1.68 Mb microdeletion in Xp22.31. Fluorescence in situ hybridization ...
Short stature has been reported in congenital ichthyoses (CI) but little data exist on patients ’ nutritional status.
PMID: 32567073 [PubMed - as supplied by publisher]
In this study, we validated a pharmacological model of epidermal LOX deficiency using the commercially available platelet 12S-LOX inhibitor ML355. ML355 inhibited methyl arachidonate LOX activity in differentiated human foreskin keratinocytes (HFK) lysates in a dose-dependent and noncompetitive manner, with an IC50 of ∼30 μM and>75% inhibition at 100 μM.
Autosomal recessive congenital ichthyosis (ARCI) is a rare, monogenic cornification disorder with erythema, epidermal scaling, ectropion, and impaired skin barrier function. Mutations in TGM1 encoding transglutaminase 1 are the predominant cause of ARCI, affecting>55% of US ARCI patients. Current therapeutic options for treating ARCI provide only symptomatic relief, necessitating the development of targeted therapeutics. KB105 is a novel, convenient, first in class, off-the-shelf disease correcting topical gene therapy for the treatment of TGM1-deficient ARCI.
Transcriptional analyses of a small sample of patients with rare forms of ichthyosis have suggested a shared Th17-skewed profile. To elucidate pathogenic differences among ichthyoses, we performed RNAseq on skin of a large cohort (n=56) ichthyosis patients (7 Netherton syndrome/NS, 16 lamellar ichthyosis/LI, 18 congenital ichthyosiform erythroderma/CIE, 13 epidermolytic ichthyosis/EI, and 2 ichthyosis with confetti/IWC) vs. 40 matched controls. Using threshold of fold change/FCH>2 and false discovery rate/FDR