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Ichthyosis: multinational European study on patient characteristics and body sites involved with impact on quality of life
Br J Dermatol. 2024 Mar 1:ljae082. doi: 10.1093/bjd/ljae082. Online ahead of print.NO ABSTRACTPMID:38427773 | DOI:10.1093/bjd/ljae082 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - March 1, 2024 Category: Dermatology Authors: May El Hachem Rita De Marco Jos é María Soria de Francisco Anne Audouze Mandy Aldwin-Easton Charbel Skayem Charles Taieb Mark éta Saint Aroman H élène Ghienne Catherine Baissac Juliette Mazereeuw Christine Bodemer Source Type: research

Bathing Suit Ichthyosis
Indian Pediatr. 2024 Feb 26:S097475591600600. Online ahead of print.NO ABSTRACTPMID:38419281 (Source: Indian Pediatrics)
Source: Indian Pediatrics - February 29, 2024 Category: Pediatrics Authors: Anissa Zaouak Cherine Charfeddine Source Type: research

Prenatal diagnosis of a fetal harlequin ichthyosis
(Source: Archives of Gynecology and Obstetrics)
Source: Archives of Gynecology and Obstetrics - February 27, 2024 Category: OBGYN Source Type: research

Genes, Vol. 15, Pages 288: Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations
r Judith Fischer Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations in connexins such as GJB3 (connexin 31), GJB4 (connexin 30.3), and occasionally GJA1 (connexin 43) were known to cause EKV. In recent years, mutations in other genes have been described as rare causes of EKV, including the genes KDSR, KRT83, and TRPM4. Features of the EKV phenotype can also appear with other genodermatoses: for example, in Netherton syndrome, which h...
Source: Genes - February 24, 2024 Category: Genetics & Stem Cells Authors: Alrun Hotz Regina F ölster-Holst Vinzenz Oji Emmanuelle Bourrat Jorge Frank Slaheddine Marrakchi Mariem Ennouri Lotta Wankner Katalin Komlosi Svenja Alter Judith Fischer Tags: Brief Report Source Type: research

GSE253214 Epidermal barrier impairment predisposes for excessive growth of the allergy-associated yeast Malassezia on murine skin
Contributors : Fiorella Ruchti ; Salom é LeibundGut-LandmannSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusThe skin barrier is vital for protection against environmental threats including insults caused by skin-resident microbes. Dysregulation of this barrier is a hallmark of atopic dermatitis (AD) and ichthyosis, with variable consequences for host immune control of colonizing commensals and opportunistic pathogens. While Malassezia is the most abundant commensal fungus of the skin, little is known about the host control of this fungus in inflammatory skin diseases. Here we show ...
Source: GEO: Gene Expression Omnibus - February 20, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

Nanopore sequencing enables allelic phasing of FLG loss-of-function variants, intragenic copy number variation and methylation status in atopic dermatitis and ichthyosis vulgaris
Loss-of-function (LoF) variants in the FLG gene are causative for ichthyosis vulgaris (IV) and the major genetic risk factor for atopic dermatitis (AD) (Barker et al., 2007; Weidinger et al., 2006). Due to its extremely repetitive nature and sequence similarity of intragenic repeats, the FLG gene is technically challenging to genetically analyse and therefore determine the contribution of LoF variants to disease status. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 7, 2024 Category: Dermatology Authors: Colin Wong, Cheng-Yong Tham, Lin Yang, Miles C. Benton, Vipin Narang, Simon Denil, Kaibo Duan, Yik Weng Yew, Bernett Lee, Paola Florez de Sessions, John E.A. Common Tags: Letters to the Editor Source Type: research