Results 21 to 30 of about 72,798 (235)

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

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis. [PDF]

Vet Dermatol
Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Rietmann SJ, Clegg JL, Jagannathan V, Wiener DJ, Kallenberg A, Grahn RA, Souza CP, Leeb T.   +7 more
europepmc   +2 more sources

Phase 2B randomised CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis.

Clincal and Experimental Dermatology, 2023
BACKGROUND In 2 severe congenital ichthyosis (CI) subtypes, autosomal recessive lamellar ichthyosis (ARCI-LI) and X-linked recessive ichthyosis (XLRI), cutaneous manifestations include widespread scaling. Approved topical treatment options are limited to
D. Murrell, J. Teng, S. Guenthner, K. Marathe, S. Kempers, Kimmie Eads, L. Castelo-Soccio, A. Mendelsohn, Jessica Raiz, C. Bunick   +9 more
semanticscholar   +1 more source

High Levels of Anxiety, Depression, Risk of Suicide, and Implications for Treatment in Patients with Lamellar Ichthyosis

Healthcare, 2023
Lamellar ichthyosis (LI) is a genodermatosis that injures the structure and function of the skin, affecting the appearance and self-esteem of patients, which may seriously impair their mental health and quality of life.
H. Cortés, Lizbeth Cariño-Calvo, O. Reyes-Hernández, Martín Rojas-Márquez, J. Magaña, P. A. Vizcaino-Dorado, E. Y. Villegas-Vázquez, L. Quintas-Granados, Elizabeth Jiménez-Islas, Valeria A. Cortés-Mollinedo, G. Leyva-Gómez, Manuel González-Del Carmen   +11 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

Complexity of dental management of a pediatric patient with lamellar ichthyosis: case report

Research, Society and Development, 2023
The purpose of this case report is to describe the complexity of dental management of a pediatric patient with lamellar ichthyosis. A 9-year-old male patient was referred by the pediatrician to the special needs’ clinic with a major complaint of "tooth ...
G. F. Rodrigues, André Ramos Losso, R. R. Moraes, Maysa Lannes Duarte, R. G. Macedo, G. Castro   +5 more
semanticscholar   +1 more source

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature. [PDF]

Pediatr Dermatol
ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Maarouf S, Clark M, Chen A, Haggstrom A.
europepmc   +2 more sources

Familial Lamellar Ichthyosis in 6 Years Old and 2 Years Old Children: A Rare Case Report

Bioscientia Medicina : Journal of Biomedicine and Translational Research, 2023
Background: Lamellar ichthyosis (LI) is a rare non-syndromic congenital ichthyosis and is autosomal recessive. LI patients are generally born with abnormalities of keratinization, then develop into lamellar scales and persist into adulthood.
Endra Yustin Ellistasari, Suci Widhiati, Ervina Rosmarwati   +2 more
semanticscholar   +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

Occular manifestation of a case of lamellar ichthyosis

IP International Journal of Ocular Oncology and Oculoplasty, 2023
A baby full term born of LSCS to a otherwise healthy mother was referred for ophthalmology department. On ophthalmological torch light examination, the patient had equal upper and lower lid bilateral ectropion. There was missing eye lashes noted.
Dhruvil Nayak, H. Trivedi, Prapti Rathod
semanticscholar   +1 more source