Results 21 to 30 of about 6,529 (236)

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

Lamellar ichthyosis

Dermatology Online Journal, 2005
A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of ...
Victor, Frank, Schaffer, Julie V
openaire   +4 more sources

CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature [PDF]

, 2017
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In
Coughlin, Carrie C, Fiala, Elise, Hsu, Tina, McKinstry, Robert C, Monaghan, Kristin G, Paciorkowski, Alex R, Shinawi, Marwan   +6 more
core   +3 more sources

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

International ophtalmology, 2023
To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an ...
Nicole Macriz-Romero, Guillermo Raul Vera-Duarte, Jesús Guerrero-Becerril, O. Chacon-Camacho, M. Astiazaran, J. Zenteno, Enrique O. Graue-Hernández   +6 more
semanticscholar   +1 more source

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

Indian Journal of Ophthalmology, 2018
Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids.
Shivanand C Bubanale, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B Kurbet   +2 more
doaj   +1 more source

Congenital bilateral ectropion in lamellar ichthyosis

Oman Journal of Ophthalmology, 2011
Chandana Chakraborti, Partha Tripathi, Gautam Bandopadhyay, Dayal Bandhu Mazumder   +3 more
doaj   +3 more sources

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis [PDF]

, 2012
Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study,
Annicchiarico-Petruzzelli, M, Bui, L, Campione, E, Candi, E, Codispoti, A, Didona, B, Melino, G, Palombo, R, Serra, V, Sette, M, Talamonti, E, Terrinoni, A, Zambruno, G   +12 more
core   +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

Distinguishing ichthyoses by protein profiling.

PLoS ONE, 2013
To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics.
Robert H Rice, Katie M Bradshaw, Blythe P Durbin-Johnson, David M Rocke, Richard A Eigenheer, Brett S Phinney, Matthias Schmuth, Robert Gruber   +7 more
doaj   +1 more source

Collodion Baby: A Clinical Enigma [PDF]

Indian Journal of Neonatal Medicine and Research, 2019
Collodion baby is a term used for neonates in whom the body surface is covered by thick skin sheets, appearing like a translucent, tight parchment paper.
Sonam Singh, Sumita Mehta, Tarun K Ravi, Anshuja Singla, Ankita Mann   +4 more
doaj   +1 more source