Results 91 to 100 of about 528,814 (282)

From Dysplasia to Carcinoma: Expression Patterns of Dermokine, Matriptase, and Tryptase in OPMD

Oral Diseases, EarlyView.
ABSTRACT Background The malignant transformation of oral potentially malignant disorders (OPMDs) lacks reliable molecular markers. Dermokine and matriptase are involved in epithelial differentiation and inflammation, while tryptase is associated with the tumor microenvironment, which may contribute to carcinogenesis.
Lara Maria Alencar Ramos Innocentini, Mateus Gonçalves Miranda, Carol Kobori da Fonseca, Pedro Franco Ferreira, Leandro Dorigan de Macedo, Graziela Cavalcanti, Luiz Carlos Conti de Freitas, Ana Carolina Fragoso Motta, Alan Grupioni Lourenço, Katiuchia Uzzun Sales   +9 more
wiley   +1 more source

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report

Journal of International Medical Research
Autosomal recessive congenital ichthyosis is a group of skin disorders characterized by abnormal keratinization. The collodion baby phenotype is a rare phenotype of autosomal recessive congenital ichthyosis characterized by a tight, translucent membrane ...
Wang Lixiang, Li Xianghong, Yang Lexia, Xi Hongmin, Li Liangliang   +4 more
doaj   +1 more source

Coexistence of Griscelli Syndrome Type 2 and Autosomal Recessive Congenital Ichthyosis in an Indian Girl

Indian Journal of Paediatric Dermatology
Griscelli syndrome (GS) is a genetic disorder, characterized by pigmentary dilution of skin and hair, neurological manifestations, and variable immunodeficiency. Three different mutations have been reported in different phenotypes of this disease.
Yashika Jayesh Doshi, Hitaishi Sethi, Bela J Shah   +2 more
doaj   +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

Managing syndromic congenital ichthyosis at a tertiary care institute—Genotype‐phenotype correlations, and novel treatments

Dermatologic Therapy, 2020
Syndromic congenital ichthyoses (CI) are genetically determined disorders of cornification that are characterized by generalized scaling along with systemic symptoms. Data on congenital syndromic ichthyosis from developing countries are scarce.
G. Dabas, R. Mahajan, D. De, S. Handa, Rakesh Kumar, D. Dayal, R. Suthar, I. Panigrahi   +7 more
semanticscholar   +1 more source

Dupilumab Reduces Pruritus in Twins With Sjögren–Larsson Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Sjögren–Larsson Syndrome (SLS), now termed ALDH3A2‐syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4‐year‐old
Kennedy Gallagher, Rame Yousif, Kathryn Hummel, Amy S. Paller   +3 more
wiley   +1 more source

Genetic testing and new variants in diagnosis of congenital ichthyoses

Molecular Genetics & Genomic Medicine
Background The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found.
Milja Salo, Teija Kimpimäki, Heini Huhtala, Tanja Saarela   +3 more
doaj   +1 more source

A loss of function mutation in the filaggrin gene associated with ichthyosis vulgaris and rheumatoid arthritis

European Journal of Inflammation, 2021
Introduction Mutations in the filaggrin ( FLG ) gene are known to cause ichthyosis vulgaris. Methods We used whole-genome sequencing (WGS) technology to investigate the genetic causes of rare and complex inherited diseases including rheumatoid arthritis,
Xinxin Xu, Qingqing Ma, Mu Lin, Mubo Liu, Chaolin Huang, Jianchao Ying, Jun Ye   +6 more
doaj   +1 more source

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report [PDF]

, 2017
Background X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes.
Alrifai, Muhammed T, Amer, Ahmed Bait, Balwi, Mohammed Al, Davies, William, Eyaid, Wafaa, Haddad, Bander, Malik, Amna, Salama, Mohammed   +7 more
core   +3 more sources

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis

Veterinary Dermatology, EarlyView.
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake, Melissa P. Swan, Kari J. Ekenstedt   +2 more
wiley   +1 more source