Results 11 to 20 of about 19,213 (227)

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

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]

, 2017
Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam, Barzegar, Mohammadreza, Fortina, Paolo, Karamzadeh, Razieh, Mansouri, Parvin, Mccormick, Kevin, Mohammadi asl, Javad, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +12 more
core   +1 more source

The pH of the skin surface and its impact on the barrier function [PDF]

, 2006
The `acid mantle' of the stratum corneum seems to be important for both permeability barrier formation and cutaneous antimicrobial defense. However, the origin of the acidic pH, measurable on the skin surface, remains conjectural.
Abeck D, Barel AO, Blank HI, Bouwstra JA, Braun-Falco O, Chao SC, Dikstein S, Elias P, Elsner P, Epprecht R, Francomano MA, Gfatter R, Gfatter R, Hartmann AA, Heuss E, Keining E, Korting HC, Korting HC, Korting HC, Korting HC, Krien PM, Menon GK, Mucke H, Naissan O, Ohmann H, Rippke F, Runeman B, Schade H, Schirren CG, Schnyder UW, Schreiner V, Seidenari S, Sparavigna A, Talbert GA, Turner RB, Vahlquist A, Wickett RR, Wilhelm KP, Yosipovitch G, Yosipovitch G, Yosipovitch G, Zlotogorski A   +41 more
core   +1 more source

Distinguishing ichthyoses by protein profiling.

PLoS ONE, 2013
To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics.
Robert H Rice, Katie M Bradshaw, Blythe P Durbin-Johnson, David M Rocke, Richard A Eigenheer, Brett S Phinney, Matthias Schmuth, Robert Gruber   +7 more
doaj   +1 more source

Ocular complications of lamellar ichthyosis

Archives of Medicine and Health Sciences, 2018
Ichthyosis is a rare heterogeneous cutaneous disorder characterized by hyperkeratinization of the skin. They may be inherited or acquired following malnutrition, malignancy, or autoimmune disorders. Common forms of ichthyosis include lamellar ichthyosis (
Ibrahim Aliyu
doaj   +1 more source

Annular epidermolytic ichthyosis: a case report and literature review, [PDF]

Anais Brasileiros de Dermatologia, 2020
Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita, Irina Paipilla Hernandez, Ana Letícia Boff, Ana Elisa Kiszewski   +3 more
doaj   +2 more sources

Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]

, 2011
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore, Cottoni, Francesca Maria Giovanna, Cucca, Francesco, Fozza, Claudio, Galleu, Antonio, Longinotti, Maurizio Roberto, Poddie, Fausto Pier'Angelo   +6 more
core   +3 more sources

BULLOUS ICHTHYOSIS [PDF]

British Journal of Dermatology, 1911
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openaire   +3 more sources

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

BMC Medical Genomics, 2022
Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syndromic forms.
Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer   +8 more
doaj   +1 more source

Maximal use of 0.05% topical isotretinoin in patients with congenital ichthyosis results in low systemic exposure. [PDF]

Br J Clin Pharmacol
Abstract Congenital ichthyoses (CI) are rare, inherited skin disorders characterized by hyperkeratosis, scaling and fissuring that significantly impair patients' quality of life. Treatment options are limited, with systemic retinoids reserved for severe cases owing to their adverse effect profile.
Schneider H, Bunick CG, Hillmann K, Huynh TN, Kempers S, Peschel N, Blume-Peytavi U, Teng JMC, Mendelsohn AM, Stinson J, Lee LW.   +10 more
europepmc   +2 more sources