Results 11 to 20 of about 363,235 (161)

A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing

Journal of Biochemical and Clinical Genetics, 2022
Background: The "autosomal recessive congenital ichthyosis (ARCI)" refers to a group of rare, heterogeneous, and non-syndromic disorders of keratinization, represented as abnormal scales over the entire body and attributable to defective ...
Gulhan Gurel, Muhsin Elmas, Basak Gogus
doaj   +2 more sources

Ichthyin (NIPAL4)-autosomal recessive congenital ichthyosis with atopic diathesis: Case report and literature review [PDF]

Journal of Dermatology and Dermatologic Surgery, 2016
Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases.
Yousef Binamer
doaj   +2 more sources

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. [PDF]

PLoS Genetics, 2013
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart ...
Franz P W Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer   +12 more
doaj   +2 more sources

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   +2 more sources

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients. [PDF]

Case Rep Dermatol Med, 2018
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype.
Sathishkumar D, Peter D, Pulimood S, Wiegmann H, Valentin F, Thomas M, Hennies HC, Oji V.   +7 more
europepmc   +2 more sources

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation [PDF]

, 2011
Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children.
Steenbergen, Gerry, van Reeuwijk, Jeroen, Lefeber, Dirk J, Kapusta, Livia, Wevers, Ron A, Zucker, Nili, Lammens, Martin, Absmanner, Birgit, Morava, Eva, van den Akker, Willem M R, Knopf, Carlos, Verrijp, Kiek, Grunewald, Stephanie, Schuurs-Hoeijmakers, Janneke H M, van Bokhoven, Hans, Jóźwiak, Adam, Lorber, Avraham, Riemersma, Moniek, Huijben, Karin, Lehle, Ludwig, Mandel, Hanna   +20 more
core   +5 more sources

Harlequin Ichthyosis in a Preterm Neonate: A Rare Case Report. [PDF]

Clin Case Rep
ABSTRACT A condition known as harlequin ichthyosis appears rarely, marked by intense abnormalities in skin development due to inherited changes in the ABCA12 gene. This leads to major issues with the outer layer of skin, forming hard, plate‐like coverings split by wide cracks.
Ali T, Javaid MH, Siddique MW, Abebe HT, Ul Haq I, Ali E, Ali Z, Afridi NA, Iqbal M.   +8 more
europepmc   +2 more sources

‐related autosomal recessive neuro‐ichthyosis [PDF]

, 2023
Background Very long-chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are
AlSayed, Moeenaldeen, Kapil Kampe, Bastaki, Laila, Bertoli‐Avella, Aida M, Antonio Romito, Kampe, Kapil, Amira Abdullah, Alice Gardham, Moeenaldeen AlSayed, Abdulrahim, Maha, Aboelanine, Ashraf H, Abdulaziz Aladwani, Al‐Balool, Haya H, Maha Abdulrahim, Fatima Alabdulrazzaq, Aida M. Bertoli‐Avella, Sacha Ferdinandusse, Romito, Antonio, Aladwani, Abdulaziz, Harry G. Leitch, Wakeling, Emma, Alabdulrazzaq, Fatima, Amal Alwadani, Frédéric M. Vaz, Ferdinandusse, Sacha, Emma Wakeling, Ashraf H. Aboelanine, Abdullah, Amira, Alwadani, Amal, Alanzi, Talal, Talal Alanzi, Dana Marafi, Haya H. Al‐Balool, Gardham, Alice, Vaz, Frédéric M, Laila Bastaki, Leitch, Harry G, Marafi, Dana   +37 more
core   +1 more source

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis. [PDF]

Mol Genet Genomic Med, 2020
Background Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth.
Li L, Liu W, Xu Y, Li M, Tang Q, Yu B, Cai R, Liu S.   +7 more
europepmc   +2 more sources

Video Demonstration of ABCA12-Related Harlequin Ichthyosis in a Low-Resource Setting: Case Report and Review of Early Management Challenges. [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Elendu C, Amaechi DC, Elendu TC, Amaechi EC, Elendu ID, Okolo EH, Uyanwune MC.   +6 more
europepmc   +2 more sources