Results 191 to 200 of about 573,924 (254)

Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1

American Journal of Medical Genetics. Part A, 2022
Autosomal recessive congenital ichthyosis (ARCI) refers to a large and genetically heterogenous group of non‐syndromic disorders of cornification featuring diffuse scaling.
J. Mohamad, L. Samuelov, S. Assaf, L. Malki, K. Malovitski, O. Meijers, N. Adir, E. Granot, M. Pavlovsky, O. Sarig, E. Sprecher   +10 more
semanticscholar   +1 more source

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand

Pediatric dermatology, 2022
Autosomal recessive congenital ichthyosis (ARCI) is a heterogenous group of rare keratinization disorders. To date, more than 13 causative genes have been identified.
Chavalit Supsrisunjai, T. Bunnag, P. Chaowalit, Niorn Boonpuen, T. Kootiratrakarn, V. Wessagowit   +5 more
semanticscholar   +1 more source

Secukinumab significantly reduces inflammation but only mildly improves scaling in four cases of autosomal recessive congenital ichthyosis

Clincal and Experimental Dermatology, 2022
Using the psoriasis regimen, administration of secukinumab 150 mg led to a significant reduction in inflammation and some reduction in scaling in four paediatric cases of autosomal recessive congenital ichthyosis.
Dharshini Subramani, Gitika Sardana, R. Kothari, Aayush Gupta   +3 more
semanticscholar   +1 more source

Precision medicine approach in a rare case of autosomal recessive congenital ichthyosis

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 2022
genodermatoses are a group of rare inherited disorders with skin manifestations, often chronic and progressive with high morbidity and mortality [1]. Despite elucidation of the genetic basis for most genodermatoses, the underlying molecular mechanisms ...
M. Ettinger, T. Burner, Angelika Lackner, Leonie C. Schoeftner, J. Holzgruber, Robert W. Gruber, E. Guenova, Martina Schuetz‐Bergmayr, Tobias Fischer, Iris K. Gratz, S. Kimeswenger, W. Hoetzenecker   +11 more
semanticscholar   +1 more source

Secukinumab therapy for paediatric patients with various phenotypes of congenital ichthyosis.

Clincal and Experimental Dermatology
This case series demonstrate that secukinumab therapy for for paediatric patients with congenital ichthyosis is safe and have variable efficacy, similar to results from clinical trial in adult patients.
Henrietta Albela, Ting Ingrid Pao Lin, Tyan Shin Lee, Deirdre Ooi, Kin Fon Leong   +4 more
semanticscholar   +1 more source

Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses

Fetal and Pediatric Pathology
Introduction Congenital ichthyosis represents a wide spectrum of diseases. This article reviews prenatal testing for ichthyosis. Methods We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to ...
Manahel Mahmood Alsabbagh
semanticscholar   +1 more source

Biologics in congenital ichthyosis: are they effective?

British Journal of Dermatology
BACKGROUND Congenital ichthyoses (CI) comprise a heterogeneous group of genetic diseases requiring lifelong treatment and having a major effect on quality of life.
J. Mazereeuw-Hautier, C. Granier Tournier, Á. Hernández-Martín, Sarah Milesi, H. Texier, M. Severino‐Freire, Nathalia Bellon, C. Bodemer, R. Gruber, E. Mahé, Fanny Morice Picard, K. Hannula-Jouppi, Jenny E. Murase, S. Barbarot, E. Cohen‐Barak, M. Torres-Pradilla, Anna L. Bruckner, Moise L. Levy, M. Koh, M. Masson Regnault, V. Rossel, C. Chiaverini, L. Arkin, Hagen Ott, C. Has, Kira Süβmuth, A. Gostynski, J. Shourick, Amy S. Paller   +28 more
semanticscholar   +1 more source

Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD

American Journal of Medical Genetics. Part A, 2020
Prader–Willi syndrome (PWS) is a prototypic genetic condition related to imprinting. Causative mechanisms include paternal 15q11‐q13 deletion, maternal chromosome 15 uniparental disomy (UPD15), Prader–Willi Syndrome/Angelman Syndrome (PWS/AS) critical ...
K. Muthusamy, Erica L. Macke, E. Klee, P. Tebben, Jennifer L Hand, L. Hasadsri, Cherisse A. Marcou, L. Schimmenti   +7 more
semanticscholar   +1 more source

Congenital ichthyosis in a llama

Journal of the American Veterinary Medical Association, 1990
A 1-month-old male cria was examined because of diffuse hyperkeratosis and conjunctivitis that had existed since birth. The mucocutaneous junction of the nostrils as well as the neck, coronary bands, and axillary and inguinal regions were the most severely affected areas. Orthokeratosis involving the epidermis and follicular infundibula was observed on
E B, Belknap, R W, Dunstan
openaire   +2 more sources

Ichthyosis Congenital Fetalis (Harlequin Fetus)

International Journal of Dermatology, 1982
A male fetus which was the product of full-term pregnancy and normal delivery with no family history is presented. The skin was hard and thick, waxy, yellowish in color, and was crossed by horizontal and or perpendicular red fissures. The eyelids were semiclosed, hard, and stiff resulting in ectropion and the conjunctivae were red.
C, Kouskoukis, A, Minas, D, Tousimis
openaire   +2 more sources