Results 41 to 50 of about 363,235 (161)

New developments in the molecular treatment of ichthyosis: review of the literature

Orphanet Journal of Rare Diseases, 2022
Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made.
M. D. W. Joosten, J. M. K. Clabbers, N. Jonca, J. Mazereeuw-Hautier, A. H. Gostyński   +4 more
doaj   +1 more source

Rud′s syndrome

Indian Dermatology Online Journal, 2014
Rud′s syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia.
K Pavani, B. S. N. Reddy, B Amar Singh
doaj   +1 more source

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report

Journal of International Medical Research
Autosomal recessive congenital ichthyosis is a group of skin disorders characterized by abnormal keratinization. The collodion baby phenotype is a rare phenotype of autosomal recessive congenital ichthyosis characterized by a tight, translucent membrane ...
Wang Lixiang, Li Xianghong, Yang Lexia, Xi Hongmin, Li Liangliang   +4 more
doaj   +1 more source

Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein, Ines Heinreich, Florian Willmitzer, Marion Mucha   +3 more
wiley   +1 more source

A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

, 2020
Summary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis.
Fonseca Mendoza, Dora Janeth, Restrepo Fernández, Carlos Martín, Medina, C. L., Mosquera, H., Vergara, J. I., Ortega?Recalde, O., Moreno, M. B., Rojas, R. F., Laissue, P.   +8 more
core   +1 more source

Emerging Paediatric Uses of Dupilumab Beyond Approvals

Clinical &Experimental Allergy, Volume 56, Issue 10, Page 1162-1176, October 2026.
Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese, Anna Calamita, Diletta D'Angelo, Alessia Marseglia, Esther Mesa Lombardero, Sara Pedersoli, Micol Tedeschi, Mara De Amici, Sara Manti, Valeria Brazzelli, Amelia Licari, Gian Luigi Marseglia   +11 more
wiley   +1 more source

Congenital Recessive Ichthyosis Unlinked to Loci for Epidermal Transglutaminases [PDF]

, 1996
Congenital recessive ichthyosis has a broad range of clinical presentations, which may be considered a spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital ichthyosiform erythroderma at the other.
Compton, John G., Lee, Minjoo L., DiGiovanna, John J., Russell, Laura J., Bale, Sherri J.   +4 more
core   +1 more source

CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of two novel mutations

, 2020
Background: Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous keratinization disorder, which is clinically classified into five main forms: Lamellar ichthyosis, congenital ichthyosiform erythroderma, harlequin ichthyosis ...
Onay, Huseyin, Durmaz, Asude, Ates, Esra Arslan, EsraArslan Ates, Ferda Özkinay, Tugrul Dereli, Ozkinay, Ferda, ERTAM SAĞDUYU, İLGEN, Asude Durmaz, Hüseyin Onay, Filiz Hazan, Ertam, Ilgen, Ataman, Esra, Dereli, Tugrul, Ilgen Ertam, Hazan, Filiz, Esra Ataman   +16 more
core   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1759-1771, September 2026.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Mutation Analysis of the CYP4F22 Gene in a Family with Autosomal Recessive Congenital Ichthyosis

, 2022
Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary cornification disorder presented with abnormal skin scaling. In this paper, we used next-generation sequencing to determine the variants in a Chinese ARCI patient.
ZHAO Yang, LIU Teng, ZHANG Yingzi, XU Zhe, SHI Haitao   +4 more
core   +1 more source