Results 101 to 110 of about 363,235 (161)

Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
doaj   +1 more source

Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance. [PDF]

Mol Syndromol, 2021
Ahmad F, Ahmed I, Alam Q, Ahmad T, Khan A, Ahmad I, Bilal M, Hayat A, Khan A, Waqas A, Rafeeq MM, Sain ZM, Umair M.   +12 more
europepmc   +1 more source

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis. [PDF]

PLoS One, 2021
Charfeddine C, Laroussi N, Mkaouar R, Jouini R, Khayat O, Redissi A, Mosbah A, Dallali H, Chedly Debbiche A, Zaouak A, Fenniche S, Abdelhak S, Hammami-Ghorbel H.   +12 more
europepmc   +1 more source

Dorfman-Chanarin syndrome: a case with hyperlipidemia

The Turkish Journal of Pediatrics, 2006
Dorfman-Chanarin syndrome is a rare, autosomal recessive disorder characterized by congenital ichthyosis and presence of intracellular lipid droplets in most tissues.
Oznur Düzovali, Güliz Ikizoğlu, Ali Haydar Turhan, Esat Yilgör   +3 more
doaj  

Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature. [PDF]

J Pediatr Genet, 2022
Dawman L, Kaur A, Nada R, Chakraborty S, Handa S, Sharawat IK, Tiewsoh K.   +6 more
europepmc   +1 more source

A case of self-healing collodion baby

Przegląd Dermatologiczny, 2021
Aleksandra Kitowska, Piotr Brzeziński, Justyna Słomka, Mieczysława Karcz, Józef Jasonek   +4 more
doaj   +1 more source

Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

Indian Journal of Pathology and Microbiology, 2010
Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene.
Mitra Souvik, Samanta Moumita, Sarkar Mihir, Chatterjee Sukanta   +3 more
doaj  

Harlequin ichthyosis: Case report

Journal of Research in Medical Sciences, 2013
Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births.
Shahrbanoo Salehin, Ahmad Azizimoghadam, Abdolghani Abdollahimohammad, Mohammad Babaeipour-Divshali   +3 more
doaj  

A case report of harlequin ichthyosis with a favorable outcome: Early treatment and significant recovery

حیات, 2019
Harlequin ichthyosis is the most severe form of autosomal-recessive congenital ichthyoses with a high mortality rate. In affected infants, mutations occur in the ABCA12 gene.
gholamreza faal, fatemeh rabani, Mahdi Hosseini   +2 more
doaj  

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients. [PDF]

Diagnostics (Basel), 2020
Fioretti T, Auricchio L, Piccirillo A, Vitiello G, Ambrosio A, Cattaneo F, Ammendola R, Esposito G.   +7 more
europepmc   +1 more source