Results 71 to 80 of about 18,146 (216)

Efficacy of Upadacitinib in a Middle‐Aged Man With Netherton Syndrome Refractory to Dupilumab: A Case Report

The Journal of Dermatology, EarlyView.
Bo‐Jie Yu, Pei‐Ling Li, Bing‐Sian Lin, Shou‐En Wu, Chih‐Tsung Hung   +4 more
wiley   +1 more source

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

The Journal of Pathology, Volume 268, Issue 3, Page 249-262, March 2026.
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

Ichthyin (NIPAL4)-autosomal recessive congenital ichthyosis with atopic diathesis: Case report and literature review

Journal of Dermatology and Dermatologic Surgery, 2016
Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases.
Yousef Binamer
doaj   +1 more source

Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review

Italian Journal of Pediatrics, 2020
Background Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life.
Cinzia Auriti, Roberta Rotunno, Andrea Diociaiuti, Silvia Magni Manzoni, Andrea Uva, Iliana Bersani, Alessandra Santisi, Andrea Dotta, May El Hachem   +8 more
doaj   +1 more source

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

The Journal of Dermatology, Volume 53, Issue 3, Page 380-387, March 2026.
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

A case of ichthyosis hystrix: Unusual manifestation of this rare disease

Indian Journal of Dermatology, 2014
Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales mainly over extensor aspects of limbs with palmoplantar keratoderma and occasionally associated with deafness and neurological
Projna Biswas, Abhishek De, Sampreeti Sendur, Falguni Nag, Archana Saha, Gobinda Chatterjee   +5 more
doaj   +1 more source

Cranial osteomyelitis in a patient with KID syndrome: Importance of thorough investigation in chronic wounds

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Michael Wolfgang Höner, Anabelle Kainz, Cornelia Erfurt‐Berge   +2 more
wiley   +1 more source

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

Allergy, Volume 81, Issue 3, Page 830-847, March 2026.
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

Resolution of Pseudoainhum with Acitretin in Lamellar Ichthyosis

Nepal Journal of Dermatology, Venereology & Leprology
Lamellar ichthyosis is an autosomal recessive type of ichthyosis characterized by abnormal skin scaling, ectropion and ear abnormalities. Pseudoainhum is the appearance of constriction bands around digits which can lead to autoamputation of digits. Here
Srisukhirthi Sukumar, Nithiyaa Pavadai, Sheela Kuruvila   +2 more
doaj   +1 more source

Bathing suit ichthyosis

Indian Journal of Paediatric Dermatology, 2018
Bathing suit ichthyosis (BSI) is a rare, autosomal recessive form of congenital ichthyosis. The phenotypic expression of this unique form of ichthyosis is limited to the involvement of bathing suit area owing to the temperature-sensitive mutation of ...
Sahana M Srinivas, Rachana Shekar, Ravi Hiremagalore   +2 more
doaj   +1 more source