Results 51 to 60 of about 248,586 (158)

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

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

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

Rare Secondary Neoplasms Arising in Epidermal Nevus: A Case Series and Literature Review

Journal of Cutaneous Pathology, Volume 53, Issue 9, Page 772-782, September 2026.
ABSTRACT Malignant transformation is known to occur with many nevi, such as nevus sebaceus. However, cases of secondary tumors developing in an epidermal nevus (EN) are rare, with only a few case reports documented in the literature. We present three unique cases of syringocystadenoma papilliferum (SCAP), syringofibroadenoma, trichilemmoma, and basal ...
Haya A. Homsi, Melissa Piliang, Jennifer Lucas, Jennifer S. Ko, Steven D. Billings, Shira Ronen   +5 more
wiley   +1 more source

Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core  

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

Harlequin Ichthyosis in a Preterm Neonate: A Rare Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT A condition known as harlequin ichthyosis appears rarely, marked by intense abnormalities in skin development due to inherited changes in the ABCA12 gene. This leads to major issues with the outer layer of skin, forming hard, plate‐like coverings split by wide cracks.
Tayyeb Ali, Muhammad Hassaan Javaid, Muhammad Wajid Siddique, Hanna Tsehay Abebe, Israr Ul Haq, Ejaz Ali, Zuhaib Ali, Nayab Ayub Afridi, Munazza Iqbal   +8 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

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