Results 41 to 50 of about 77,152 (265)

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

Oral manifestations of lamellar ichthyosis in association with rickets. [PDF]

BMJ Case Rep, 2020
Lamellar ichthyosis (LI) is a rare genetic condition that affects the skin, with an incidence of less than 1:300 000 in different parts of the world. This report describes a case of a 5-year-old girl with LI and rickets presenting with premature loss of ...
Tewari N, Mathur VP, Tamchos R, Rahul M.
europepmc   +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

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

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 V Nayak, Harish Trivedi, Prapti Rathod   +2 more
openalex   +3 more sources

A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]

Clin Case Rep
ABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Zaeem M, Hassan AHMU, Javaid MH, Usman M, Ahmed M, Naveed MU, Al Aboud MY.   +6 more
europepmc   +2 more sources

A rare case of ocular pterygium in a young boy with congenital lamellar ichthyosis

Indian Journal of Ophthalmology - Case Reports
Congenital lamellar ichthyosis is a rare dermato-ocular disease occurring in 1:300,000 population and is autosomal recessive. The most common ocular manifestation reported is cicatricial ectropion.
Shubratha S Hegde, Sandhya Dharwadkar, K Athira, Harsha Shaji   +3 more
openalex   +2 more sources

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