Results 1 to 10 of about 18,146 (216)

Ichthyosis vulgaris: An updated review

Skin Health and Disease, 2023
Ichthyosis vulgaris is an inherited, non‐syndromic form of ichthyosis that presents with skin problems. Making up more than 95% cases of ichthyosis, ichthyosis vulgaris is caused by heterozygous loss‐of‐function mutation of the filaggrin gene, raising ...
Huda Jaffar, Zobia Shakir, Gaurav Kumar, Iman Fatima Ali   +3 more
doaj   +2 more sources

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases [PDF]

Acta Dermato-Venereologica
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen   +7 more
doaj   +2 more sources

The possibilities of using retinol palmitate in the systemic treatment of generalized hereditary keratinization disorders [PDF]

Vestnik Dermatologii i Venerologii, 2023
Hereditary ichthyosis is a group of generalized hereditary keratinization disorders characterized by general dryness of the skin, peeling, hyperkeratosis and often erythroderma. These manifestations are caused by mutations in genes mainly involved in the
Stanislava Yu. Petrova, Vera I. Albanova
doaj   +1 more source

Ichthyosis (concept, pathohistology, clinical picture, treatment)

Vestnik Dermatologii i Venerologii, 2021
Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales.
Tatyana Gennadyevna Takhtarova, Zarema Rimovna Khismatullina, Lyudmila Dmitrievna Panova, Anastasia Nikolaevna Panova   +3 more
doaj   +1 more source

Congenital ichthyosis presentation and outcome - A case series

Journal of Family Medicine and Primary Care, 2023
The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity.
Qudsiya A. Ansari, Vinaya A. Singh, Kailas G. Randad, Prasoon Bansal   +3 more
doaj   +1 more source

Quality of life among pediatric patients and their families suffering from congenital ichthyosis - A cross-sectional study

Indian Journal of Paediatric Dermatology, 2022
Introduction: Ichthyosis are a heterogeneous group of hereditary skin disorders characterized by dryness, hyperkeratosis, and desquamation. The purpose of this study was to evaluate quality of life (QoL) of patients with ichthyosis and their families ...
Priyanka Hemrajani, B C Sharath Kumar, Mona Sharma   +2 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

Harlequin ichthyosis newborn: A case report

SAGE Open Medical Case Reports, 2022
Harlequin ichthyosis is a rare and severe genetic skin disorder that occurs within the developing foetus. Harlequin ichthyosis is the most severe and devastating form of autosomal recessive congenital ichthyoses.
Maryam Nikbina, Masoumeh Sayahi
doaj   +1 more source

Cutaneous ichthyosis secondary to isoniazid

Egyptian Journal of Chest Disease and Tuberculosis, 2013
Introduction: Ichthyosis is a rare dermatological affection characterized by keratinization disorder. The occurrence of acquired ichthyosis in adults is an indicator of systemic disease.
Hatim Kouismi, Jamal-Eddine Bourkadi, Ghali Iraqi   +2 more
doaj   +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