Results 61 to 70 of about 5,748 (201)

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

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling

Acta Dermato-Venereologica, 2021
Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were ...
Mi-Ran Kim, Vinzenz Oji, Frederic Valentin, Heiko Traupe, Jerzy-Roch Nofer, Ingrid Hausser, Hans Christian Hennies, Katja Eckl, Stefan A. Wudy, Alberto Sánchez-Guijo, Laura Kerschke, Judith Fischer, Kira Süßmuth   +12 more
doaj   +1 more source

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis

Veterinary Dermatology, Volume 37, Issue 3, Page 365-374, June 2026.
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

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

Video Demonstration of ABCA12‐Related Harlequin Ichthyosis in a Low‐Resource Setting: Case Report and Review of Early Management Challenges

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Chukwuka Elendu, Dependable C. Amaechi, Tochi C. Elendu, Emmanuel C. Amaechi, Ijeoma D. Elendu, Emeka H. Okolo, Mbanefo C. Uyanwune   +6 more
wiley   +1 more source

Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses

Congenital ichthyosis represents a wide spectrum of diseases. This article reviews prenatal testing for ichthyosis. We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to prenatal testing. Search
Manahel Mahmood Alsabbagh (12054813)
core   +1 more source

A mixed-methods online survey approach using retrospective self-reporting to characterise congenital ichthyoses across age groups

Orphanet Journal of Rare Diseases
Background The ichthyoses are a group of rare, dermatological conditions characterised by dry, thickened scales across the body and impaired skin barrier function.
Talia Elgie, William Davies, Georgina H. Wren   +2 more
doaj   +1 more source

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

International Journal of Developmental Neuroscience, Volume 86, Issue 3, May 2026.
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia, Eleonora Mura, Fabio Bruschi, Stefania Zambrano, Michela Brena, Gianluca Tadini, Filippo Arrigoni, Clara E. Antonello, Carla Uggetti, Cecilia Parazzini, Pierangelo Veggiotti, Davide Tonduti   +11 more
wiley   +1 more source

Onychogryposis Secondary to Underlying Phalangeal Non‐Union

JEADV Clinical Practice, EarlyView.
Sunil Jaiswal, Shraddha Uprety, Pratichya Thapa, Smarika Upadhyaya, Aditi Joshi, Prakriti Lamichhane   +5 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source