Results 1 to 10 of about 6,529 (236)

Genu Valgum and Lamellar Ichthyosis: Insights into a Rare Presentation [PDF]

Journal of Orthopaedic Case Reports
Introduction: The main way that the skin produces Vitamin D, which is necessary for calcium metabolism and skeletal health, is through exposure to ultraviolet B rays.
Ajay Dodeja, Kirtee Meshram, Sushil Pande, Yash Shewale, Ruchika Nevse   +4 more
doaj   +3 more sources

An infant with lamellar ichthyosis presenting with meningitis

Clinical Case Reports, 2023
Lamellar ichthyosis is a rare congenital disorder characterized by widespread epidermal hyperkeratinization. It is a rare clinical disorder throughout the entire planet, and newborns with this disease frequently have collodion membranes (adhering, supple,
Telila Mesfin, Mesfin Tsegaye, Kenbon Seyoum, Girma Geta, Neway Ejigu, Tesfaye Elala, Degefa Gomora, Biniyam Sahiledengle, Eshetu Mesfin Tadesse, Getu Kusa, Teketel Tilahun   +10 more
doaj   +2 more sources

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report [PDF]

Journal of International Medical Research
Autosomal recessive congenital ichthyosis is a group of skin disorders characterized by abnormal keratinization. The collodion baby phenotype is a rare phenotype of autosomal recessive congenital ichthyosis characterized by a tight, translucent membrane ...
Wang Lixiang, Li Xianghong, Yang Lexia, Xi Hongmin, Li Liangliang   +4 more
doaj   +2 more sources

Lamellar ichthyosis: a case report

The Turkish Journal of Pediatrics, 2002
Ichthyoses are divided into four groups according to clinical, histopathologic and genetic findings. Lamellar ichthyosis is one of them. The incidence of lamellar ichthyosis is believed to be approximately 1 per 100,000 to 300,000 live births.
Hamit Ozyürek, Ayşe Kavak, Murat Alper
doaj   +3 more sources

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

Medicina, 2023
Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema.
Abdulhadi Almazroea, Ambreen Ijaz, Abdul Aziz, Muhammad Mushtaq Yasinzai, Rafiullah Rafiullah, Fazal Ur Rehman, Shakeela Daud, Rozeena Shaikh, Muhammad Ayub, Abdul Wali   +9 more
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

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

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

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. [PDF]

, 2016
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the ...
Chen, J., Crumrine, D.A., Elias, P.M., Feng, W., Ferreyros, M., Hohl, D., Holleran, W.M., Hupe, M., Niswander, L., Roop, D.R., Torchia, E.C., Williams, T., Zhang, L.   +12 more
core   +7 more sources