Results 81 to 90 of about 31,665 (304)

Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing

The Journal of Pathology, EarlyView.
Abstract Netherton syndrome (NS) is a rare, severe, and often life‐threatening disease for which current therapeutic approaches are limited and show variable effectiveness. NS is characterized by excessive epidermal desquamation that results in a highly defective epidermal barrier, constitutive skin inflammation, allergies, and hair abnormalities.
Eleni Zingkou, Evangelos Bisyris, Georgios Pampalakis, Georgia Sotiropoulou   +3 more
wiley   +1 more source

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

Dermatologica Sinica, 2019
Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses.
Evren Gumus
doaj   +1 more source

Smart Biomaterials and Dressings for the Treatment of Chronic Inflammatory Skin Diseases

Rare Metals, EarlyView.
ABSTRACT Chronic inflammatory skin diseases, encompassing immune‐inflammatory conditions and infection‐associated dermatoses, pose significant clinical challenges due to high prevalence, recurrence, and therapeutic resistance, affect over 30% of the global population.
Zehao Lan, Shengjie Xue, Junyi Yin, Shaolei Wang, Yunlei Zhou, Jieyue Liao   +5 more
wiley   +1 more source

X‐linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report

Clinical Case Reports
Key Clinical Message Cutaneous scaling and associated clinical syndrome displayed in X‐linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management.
Sunil Bhatta, Sukriti Pandit, Pratik Chaudhary, Naresh Thapa Chhetri   +3 more
doaj   +1 more source

Clinical Spectrum of Congenital Ichthyosis in Pediatric Age Group from a Tertiary Care Center in India

Indian Journal of Paediatric Dermatology
Objective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta, Damini Verma, Himadri, Apaopa Jemima Thekho, Ayushman Bindal   +4 more
doaj   +1 more source

A Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral Density. [PDF]

, 2016
Primary biliary cirrhosis (PBC), a chronic autoimmune liver disease, has been associated with increased incidence of osteoporosis. Intriguingly, two PBC susceptibility loci identified through genome-wide association studies are also involved in bone ...
Bian, Zhaolian, Chen, Haoyan, Gershwin, M Eric, Jiang, Xiang, Li, Enling, Li, Zhiqiang, Lian, Min, Liao, Wilson, Ma, Xiong, Miao, Qi, Seldin, Michael F, Shi, Yongyong, Tang, Ruqi, Wang, Qixia, Wang, Zhaoyue, Wei, Yiran, Yang, Fan, Yang, Yue, Zhang, Haiyan   +18 more
core   +2 more sources

Stratum Corneum Ceramide Abnormalities in Atopic Dermatitis: Pathophysiology and Implications for Disease Management

The Journal of Dermatology, EarlyView.
ABSTRACT The stratum corneum, as the outermost layer of the skin, functions as a critical barrier that maintains cutaneous hydration and systemic homeostasis. Among its structural lipids, ceramides constitute the most abundant and diverse component. These molecules are essential for the formation of lamellar structures that secure barrier integrity ...
Takashi Sakai
wiley   +1 more source

Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro [PDF]

, 2019
The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product.
Cook, Jonathan P., Dale, Nicholas, de Wolf, Elizabeth   +2 more
core   +1 more source

Postbiotics and Nicotinamide Utilize Distinct Mechanisms to Improve Skin Barrier Integrity, Inflammation, and Keratinocyte Differentiation

Allergy, EarlyView.
Integrating skin barrier measurements with omics and machine learning, we found that postbiotics and NAM regulate skin homeostasis through distinct, strain‐ and dose‐dependent mechanisms. Postbiotics primarily modulate skin barrier function by promoting keratinocyte differentiation and suppressing inflammation.
Yagiz Pat, Duygu Yazici, Huseyn Babayev, Sena Ardicli, Xiangting Bu, Sheri Simmons, Anthony Almada, Christine Avena, Tye Jensen, Raja Dhir, Patrick Westermann, Asuncion Garcia‐Sanchez, Manru Li, Ozge Ardicli, Can Zeyneloglu, Marco Pane, Angela Amoruso, Christoph Messner, Ismail Ogulur, Yasutaka Mitamura, Mubeccel Akdis, Cezmi A. Akdis   +21 more
wiley   +1 more source

Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

Indian Journal of Dermatology, 2017
Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes.
Arghyaprasun Ghosh, Rahul Ahar, Gobinda Chatterjee, Neha Sharma, Shruti Alhad Jadhav   +4 more
doaj   +1 more source