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Nanopore Long-Read Sequencing Solves the Conundrum of FLG Genetics
Loss-of-function (LoF) variants resulting in stop codons in FLG are causative for ichthyosis vulgaris (IV) (Smith et al, 2006). FLG LoF is also a major risk factor for developing atopic dermatitis (AD) (Palmer et al, 2006). However, reports of mild AD in compound heterozygote individuals suggest that these LoF may be in cis (same allele) and the other allele to be normal. To further complicate FLG genetics, eac h FLG allele is comprised of either 10, 11, or 12 repeats, with each additional repeat decreasing the odds of AD (Brown et al, 2012). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 22, 2024 Category: Dermatology Authors: Pedro S. Bonilla, Cristina de Guzman Strong Tags: Commentary Source Type: research

Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1
The identification of monogenic causes for cornification disorders has enhanced our understanding of epidermal differentiation and skin barrier function. Autosomal dominant lamellar ichthyosis (ADLI) is a rare condition, and ASPRV1 was the only gene linked to ADLI to date. We identified a heterozygous variant (ENST00000686631.1:c.1372G>T, p.(Val458Phe)) in the NKPD1 gene in seven individuals from a four-generation German pedigree with generalized lamellar ichthyosis by whole exome sequencing. Segregation analysis confirmed its presence in affected individuals, resulting in a LOD score of 3.31. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 18, 2024 Category: Dermatology Authors: Katalin Komlosi, Cristina Glocker, Hao-Hsiang Hsu-Rehder, Svenja Alter, Julia Kopp, Alrun Hotz, Andreas David Zimmer, Ingrid Hausser-Siller, Roger Sandhoff, Vinzenz Oji, Judith Fischer Tags: Original Article Source Type: research

Netherton syndrome —A therapeutic challenge in childhood
We describe an 8-year-old boy with genetically proven NS treated with intravenous immunoglobulin for recurrent skin and systemic infections from infancy, growth retardation, and associated erythroderma. Under this therapy, his skin status, infectious exacerbations, and quality of life all improved. Knowledge of the cytokine-mediated pathogenesis of NS and the development of new biologic drugs open new possibilities for NS patients. However, the different therapeutic options have been applied in a limited number of cases, and variable responses have been shown. Randomized controlled trials with a sufficient number of patien...
Source: Clinical Case Reports - April 17, 2024 Category: General Medicine Authors: Polina Kostova, Guergana Petrova, Martin Shahid, Vera Papochieva, Dimitrinka Miteva, Ivelina Yordanova, Kossara Drenovska, Irena Bradinova, Camila K. Janniger, Robert A. Schwartz, Snejina Vassileva Tags: CASE REPORT Source Type: research

Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis
Anim Genet. 2024 Mar 28. doi: 10.1111/age.13423. Online ahead of print.NO ABSTRACTPMID:38549226 | DOI:10.1111/age.13423 (Source: Animal Genetics)
Source: Animal Genetics - March 29, 2024 Category: Genetics & Stem Cells Authors: Sarah Kiener Susanne Åhman Robert Cikota Vidhya Jagannathan Sohvi Blatter Iva Cvitas Sara Soto Tosso Leeb Source Type: research

French national protocol for the management of congenital ichthyosis
Ann Dermatol Venereol. 2024 Mar 20;151(1):103247. doi: 10.1016/j.annder.2024.103247. Online ahead of print.ABSTRACTCongenital ichthyoses (CI) comprise a heterogeneous group of monogenic genetic skin diseases characterized by diffuse scaling, often associated with skin inflammation. Diagnosis of the individual form of ichthyosis is complex and is guided by clinical expertise. CI usually has a major impact on quality of life (QOL) and thus requires lifelong treatment. To date, there are no curative therapies, although various symptomatic treatment options exist. The present protocol for the management of CI has been drawn up...
Source: Annales de Dermatologie et de Cenereologie - March 21, 2024 Category: Dermatology Authors: M Severino-Freire C Granier Tournier C Chiaverini A Audouze F Morice-Picard H Texier I Dreyfus A-C Bing-Lecointe S Mallet C Bodemer J Fischer N Jonca J Mazereeuw-Hautier French Pediatric Dermatology Research Group Source Type: research

French national protocol for the management of congenital ichthyosis
Ann Dermatol Venereol. 2024 Mar 20;151(1):103247. doi: 10.1016/j.annder.2024.103247. Online ahead of print.ABSTRACTCongenital ichthyoses (CI) comprise a heterogeneous group of monogenic genetic skin diseases characterized by diffuse scaling, often associated with skin inflammation. Diagnosis of the individual form of ichthyosis is complex and is guided by clinical expertise. CI usually has a major impact on quality of life (QOL) and thus requires lifelong treatment. To date, there are no curative therapies, although various symptomatic treatment options exist. The present protocol for the management of CI has been drawn up...
Source: Annales de Dermatologie et de Venereologie - March 21, 2024 Category: Dermatology Authors: M Severino-Freire C Granier Tournier C Chiaverini A Audouze F Morice-Picard H Texier I Dreyfus A-C Bing-Lecointe S Mallet C Bodemer J Fischer N Jonca J Mazereeuw-Hautier French Pediatric Dermatology Research Group Source Type: research