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
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
Clin Genet. 2024 Jan 26. doi: 10.1111/cge.14490. Online ahead of print.ABSTRACTMultiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence. We hereby present a series of 26 fetuses displaying severe MCC phenotypes from 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, and genetic investigations. Most common prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios (50%), increased nuchal tran...
Source: Clinical Genetics - January 26, 2024 Category: Genetics & Stem Cells Authors: Gozde Tutku Turgut Umut Altunoglu Cagri Gulec Tugba Sarac Sivrikoz Tu ğba Kalaycı Guven Toksoy Şahin Avcı Behiye Tu ğçe Yıldırım G özde Yeşil Sayın Ibrahim Halil Kalelioglu Birsen Karaman Recep Has Seher Ba şaran Atil Yuksel H ülya Kayserili Source Type: research
Case Report: Borderline Lepromatous Leprosy Therapy Complicated by Type 1 Leprosy Reaction and Adverse Reactions with Dapsone and Clofazimine
Am J Trop Med Hyg. 2024 Jan 23:tpmd220637. doi: 10.4269/ajtmh.22-0637. Online ahead of print.ABSTRACTLeprosy is a global health issue, causing long-term functional morbidity and stigma. Rapid diagnosis and appropriate treatment are important; however, early diagnosis is often challenging, especially in nonendemic areas. Here, we report a case of borderline lepromatous leprosy accompanied by dapsone-induced (neutropenia, anemia, and methemoglobinemia) and clofazimine-induced (skin discoloration and ichthyosis) side effects and type 1 leprosy reactions during administration of the multidrug therapy. The patient completely re...
Source: Am J Trop Med Hyg - January 24, 2024 Category: Infectious Diseases Authors: Takashi Matono Shotaro Suzuki Shuichi Mori Manabu Ato Source Type: research
Case Report: Borderline Lepromatous Leprosy Therapy Complicated by Type 1 Leprosy Reaction and Adverse Reactions with Dapsone and Clofazimine
Am J Trop Med Hyg. 2024 Jan 23:tpmd220637. doi: 10.4269/ajtmh.22-0637. Online ahead of print.ABSTRACTLeprosy is a global health issue, causing long-term functional morbidity and stigma. Rapid diagnosis and appropriate treatment are important; however, early diagnosis is often challenging, especially in nonendemic areas. Here, we report a case of borderline lepromatous leprosy accompanied by dapsone-induced (neutropenia, anemia, and methemoglobinemia) and clofazimine-induced (skin discoloration and ichthyosis) side effects and type 1 leprosy reactions during administration of the multidrug therapy. The patient completely re...
Source: The American Journal of Tropical Medicine and Hygiene - January 24, 2024 Category: Tropical Medicine Authors: Takashi Matono Shotaro Suzuki Shuichi Mori Manabu Ato Source Type: research
Lipid Monolayer on Cell Surface Protein Templates Functional Extracellular Lipid Assembly
The barriers of organisms to water loss are provided by extracellular lipids, but the mechanisms that sculpt these rather rigid lipid layers are not fully understood. In human skin, covalently bound ultra-long ceramides on the surface of corneocytes, the corneocyte lipid envelope, fluidize and rearrange neighboring extracellular matrix lipids, ensuring their malleability into a functional protective barrier against the environment. AbstractWhen the ancestors of men moved from aquatic habitats to the drylands, their evolutionary strategy to restrict water loss is to seal the skin surface with lipids. It is unknown how these...
Source: Small - January 20, 2024 Category: Nanotechnology Authors: Anupma Dwivedi,
Anisha Mazumder,
Petra Pullmannov á,
Anna Paraskevopoulou,
Lukáš Opálka,
Andrej Kováčik,
Miloslav Macháček,
Pavla Jančálková,
Petra Svačinová,
Herwig Peterlik,
Jaroslav Maixner,
Kateřina Vávrová Tags: Research Article Source Type: research
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
CONCLUSIONS: Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve.PMID:38204317 | DOI:10.24953/turkjped.2022.187 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: G önül Büyükyılmaz Keziban Toksoy Ad ıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih G ürbüz Mehmet Boyraz Source Type: research
Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses
This article reviews prenatal testing for ichthyosis.METHODS: We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to prenatal testing.RESULTS: Search resulted in 408 publications covering 13 types of ichthyoses and four types of tests.DISCUSSION: Biochemical testing is diagnostic in trichothiodystrophy, but nonspecific in X-linked ichthyosis and Refsum syndrome. Except in X-linked ichthyosis, biochemical testing requires invasive procedures to obtain fetal skin biopsy, amniocytes, or chorionic villus samples. It is superior to histological and cytological examinati...
Source: Fetal and Pediatric Pathology - January 11, 2024 Category: Pathology Authors: Manahel Mahmood Alsabbagh Source Type: research
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
CONCLUSIONS: Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve.PMID:38204317 | DOI:10.24953/turkjped.2022.187 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: G önül Büyükyılmaz Keziban Toksoy Ad ıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih G ürbüz Mehmet Boyraz Source Type: research
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
CONCLUSIONS: Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve.PMID:38204317 | DOI:10.24953/turkjped.2022.187 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: G önül Büyükyılmaz Keziban Toksoy Ad ıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih G ürbüz Mehmet Boyraz Source Type: research
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
CONCLUSIONS: Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve.PMID:38204317 | DOI:10.24953/turkjped.2022.187 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: G önül Büyükyılmaz Keziban Toksoy Ad ıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih G ürbüz Mehmet Boyraz Source Type: research
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
CONCLUSIONS: Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve.PMID:38204317 | DOI:10.24953/turkjped.2022.187 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: G önül Büyükyılmaz Keziban Toksoy Ad ıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih G ürbüz Mehmet Boyraz Source Type: research
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
CONCLUSIONS: Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve.PMID:38204317 | DOI:10.24953/turkjped.2022.187 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: G önül Büyükyılmaz Keziban Toksoy Ad ıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih G ürbüz Mehmet Boyraz Source Type: research
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
CONCLUSIONS: Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve.PMID:38204317 | DOI:10.24953/turkjped.2022.187 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: G önül Büyükyılmaz Keziban Toksoy Ad ıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih G ürbüz Mehmet Boyraz Source Type: research
