Results 21 to 30 of about 31,665 (304)

Ichthyosis uteri with carcinoma cervix: A case report

MGM Journal of Medical Sciences, 2021
Ichthyosis uteri is a rare condition in which the entire surface of the endometrium undergoes metaplasia and is replaced by stratified squamous epithelium.
Abeer M Ilyas, Ujwala Maheswari
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

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report [PDF]

Frontiers in Immunology
Ichthyoses, a group of skin cornification disorders caused by protein and lipid abnormalities that disrupt epidermal functions, are mainly characterized by generalized scaling.
Wenjie Cheng, Wenjie Cheng, Wenjie Cheng, Chaolan Pan, Chaolan Pan, Chaolan Pan, Zhe Sun, Zhe Sun, Zhe Sun, Peiyi Sun, Peiyi Sun, Peiyi Sun, Jiawen Li, Jiawen Li, Jiawen Li, Zhirong Yao, Zhirong Yao, Zhirong Yao, Xiaoxiao Wang, Xiaoxiao Wang, Xiaoxiao Wang, Jia Zhang, Jia Zhang, Jia Zhang   +23 more
doaj   +2 more sources

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

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Genes, 2023
Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin.
A. Hotz, J. Kopp, E. Bourrat, V. Oji, Kira Süßmuth, K. Komlosi, B. Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, R. Betz, K. Giehl, Fiona Schedel, L. Weibel, S. Schulz, D. Stölzl, G. Tadini, E. Demiral, Karin Berggård, A. Zimmer, S. Alter, J. Fischer   +20 more
semanticscholar   +1 more source

Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review. [PDF]

Clin Case Rep
Alanzi A, Alatefi D, Alkabazi M, Alsaleh B, Fouad A, Al Oraby I.   +5 more
europepmc   +3 more sources

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis

International Journal of Molecular Sciences, 2022
Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the formation and normal functioning of a lipid barrier, lead to the development of autosomal recessive congenital ichthyosis (ARCI).
D. Chulpanova, A. Shaimardanova, Aleksei S. Ponomarev, S. Elsheikh, A. Rizvanov, V. Solovyeva   +5 more
semanticscholar   +1 more source

Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature

Children, 2022
Harlequin ichthyosis (HI) is a life-threatening genetic disorder that largely affects the skin of infants. HI is the most severe form of the autosomal recessive disorder known as ichthyosis.
Maria Tsivilika, Dimitrios Kavvadas, Sofia Karachrysafi, A. Sioga, T. Papamitsou   +4 more
semanticscholar   +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

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

JAMA dermatology, 2021
Importance Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficult to
Qisi Sun, N. M. Burgren, S. Cheraghlou, A. Paller, M. Larralde, L. Bercovitch, J. Levinsohn, Ivy Ren, R. Hu, Jing Zhou, T. Zaki, R. Fan, C. Tian, Corey Saraceni, C. Nelson-Williams, E. Loring, B. Craiglow, L. Milstone, R. Lifton, L. Boyden, K. Choate   +20 more
semanticscholar   +1 more source