Results 81 to 90 of about 6,529 (236)

Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab

Pediatric Dermatology, Volume 42, Issue 4, Page 844-848, July/August 2025.
ABSTRACT We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports.
Danielle Marcoux, Sophie‐Anne Savard, Victor Kokta, Elsa Rossignol, Luis H. Ospina   +4 more
wiley   +1 more source

Quality of life in Swedish children with congenital ichthyosis

Dermatology Reports, 2010
Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj   +1 more source

Positive selection in Europeans and East-Asians at the ABCA12 gene [PDF]

, 2019
Natural selection acts on genetic variants by increasing the frequency of alleles responsible for a cellular function that is favorable in a certain environment.
Andolfi, G., Antonini, D., Ayub, Q., Buonaiuto, M., Colonna, V., D'Angelo, G., Guardiola, O., Kumar, H., Missero, C., Petrella, V., Salvemini, M., Sirica, R., Sticco, L., Tramontano, D., Tyler-Smith, C., Xue, Y.   +15 more
core   +2 more sources

Basic Emollients for Xerosis Cutis in Atopic Dermatitis: A Review of Clinical Studies

International Journal of Dermatology, Volume 64, Issue S1, Page 13-28, June 2025.
ABSTRACT Xerosis cutis (dry skin) is a common and burdensome symptom of atopic dermatitis (AD). Topical emollients restore skin hydration and barrier function through the physicochemical properties of their nonactive constituents (e.g., glycerol, urea, lactic acid, liquid paraffin, petrolatum) and represent the mainstay of basic therapy for xerosis ...
Andreas Wollenberg, Sebastien Barbarot, Antonio Torrelo   +2 more
wiley   +1 more source

Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis [PDF]

, 2016
Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program.
Adase, Christopher A, Adir, Noam, Ast, Gil, Bochner, Ron, Campbell, Linda E., Erez, Noam, Fainberg, Gilad, Gallo, Richard L., Gat, Andrea, Goldberg, Ilan, Gottlieb, Yehonatan, Isakov, Ofer, Li, Qiaoli, MacCallum, Stephanie, Malchin, Natalia, McLean, W. H. Irwin, Pavlovsky, Mor, Peled, Alon, Rogers, Tova, Samuelov, Liat, Sandilands, Aileen, Sarig, Ofer, Shayevitch, Ronna, Shomron, Noam, Sprecher, Eli, Uitto, Jouni, Vodo, Dan, Warshauer, Emily, Yu, Benjamin D.   +28 more
core   +2 more sources

Increased risk of depression and impairment in quality of life in patients with lamellar ichthyosis

Dermatologic Therapy, 2020
Lamellar ichthyosis (LI) is a genetic skin disorder characterized by dark brown scales, palmoplantar hyperkeratosis, pain, and itching. LI severity could have implications in psychological aspects, causing depression and impairment in the quality of life
H. Cortés, Martín Rojas-Márquez, O. Reyes-Hernández, Juan C Morales-Morfín, Mario R B Guapillo-Vargas, Miguel Varela-Cardoso, J. Magaña, G. Leyva-Gómez, M. Carmen   +8 more
semanticscholar   +1 more source

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis

Veterinary Dermatology, Volume 36, Issue 3, Page 314-320, June 2025.
Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Stefan J. Rietmann, Jennifer L. Clegg, Vidhya Jagannathan, Dominique J. Wiener, Angelica Kallenberg, Robert A. Grahn, Clarissa P. Souza, Tosso Leeb   +7 more
wiley   +1 more source

A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity. [PDF]

, 2015
Keratin intermediate filaments (KIFs) protect the epidermis against mechanical force, support strong adhesion, help barrier formation, and regulate growth.
Adams, Alam, Alvarado, Arin, Baris, Bianchi, Bligh, Bunick, Bär, Böttinger, Candi, Candi, Capetanaki, Chan, Chernoivanenko, Christina B. Brazel, Chung, Coulombe, Coulombe, Crowe, Dennis R. Roop, Duan, Egberts, Ellis, Epand, Fessing, Fontanesi, Fuchs, Fuchs, Gendronneau, Geng, Habtezion, Haines, Hamanaka, Hans Binder, Hardman, Helenius, Henry Löffler-Wirth, Herrmann, Hesse, Hoefs, Homberg, Homberg, Hornig-Do, Hoste, Hue-Tran Hornig-Do, Huebner, Jamal-Eddine Bouameur, Janina Bär, Jaquemar, Jarnik, Jayaprakash, Kalinin, Kato, Kawasaki, Kerns, Kim, Kim, Kloepper, Koch, Kröger, Kröger, Kuramoto, Kypriotou, Laatsch, Lane, Langbein, Lessard, Lim, Loschke, Macdiarmid, Magin, Matsui, Matsuki, McAleer, Mor-Vaknin, Nakamichi, Nestle, Nicole Schwarz, Nishizawa, Norlén, Oji, Owens, Palmer, Panjwani, Paradies, Peter Seibel, Preethi Vijayaraj, Quigley, Reichelt, Reichelt, Reichelt, Rice, Rice, Rice, Robert H. Rice, Roop, Rorke, Roth, Roth, Rowland, Rudolf E. Leube, Rudolf J. Wiesner, Sabharwal, Sakaguchi, Samuelov, Samuelov, Sandilands, Sandra Heller, Schmuth, Schweizer, Schäfer, Schäfer, Segre, Segre, Seltmann, Seltmann, Seltmann, Sevilla, Signorelli, Simpson, Singla, Smith, Susanne Brodesser, Szeverenyi, Sören Thiering, Takahashi, Tamai, Tao, Tasseva, Tatsuta, Thomas M. Magin, Vijayaraj, Vijayaraj, Vinod Kumar, Wallace, Watt, Yao, Yu, Zeeuwen, Özbalci   +140 more
core   +1 more source

Mild lamellar ichthyosis with a truncated homozygous TGM1 mutation in a pediatric patient from Turkey

Dermatologic Therapy, 2020
Dear Editor, Autosomal recessive congenital ichthyosis is divided into two groups as lamellar ichthyosis (LI) and nonbullous ichthyosis. In many genes, such as ALOX12B, ALOXE3, CYP4F22, ABCA12 and NIPAL4, mutations related to this disease were defined ...
I. G. İmren, Efsun Tanacan, S. Ceylaner, G. Sumer, M. Ekşioğlu   +4 more
semanticscholar   +1 more source

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis

Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley   +1 more source