Results 21 to 30 of about 3,936 (170)

Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome [PDF]

Clinical Case Reports, 2018
Key Clinical Message Sjögren–Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome.
Maryam Taghdiri, Atie Kashef, Majid Fardaei, Mohammad Miryounesi   +3 more
doaj   +2 more sources

A case report: Sjogren Larsson Syndrome [PDF]

Clinical Practice, 2019
Sjogren-Larsson Syndrome (SLS) is an autosomal recessive disorder with 100% penetrance. It has a characteristic set of clinical features, ichthyosis, spastic diplegia, and severe learning difficulties. To educate the patients about the treatment of dry skin and proper counseling regarding the genetic basis of disease are needed.
Desale Snehal, Gugle Anil, Kote Rahul, Jadhav Vikrant   +3 more
exaly   +2 more sources

Sjögren-Larsson syndrome: A study of clinical symptoms in six children

Indian Dermatology Online Journal, 2014
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation.
Sahana M Srinivas, KN Vykunta Raju, Ravi Hiremagalore   +2 more
doaj   +2 more sources

Sjogren-Larsson syndrome: A rare neurocutaneous disorder.

J Pediatr Neurosci, 2016
Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.
Subramanian V, Hariharan P, Balaji J.
europepmc   +4 more sources

A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

Annals of Indian Academy of Neurology, 2013
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation,
Faruk Incecik, Ozlem M Herguner, Wiliam B Rizzo, Sakir Altunbasak   +3 more
doaj   +2 more sources

Case Report: Sjogren-Larsson Syndrome: Two Cases from One Family

Journal of Rehabilitation, 2006
Sjogren–Larsson Syndrome (SLS) is an autosomal recessive disorder characterized by generalized Ichthyosis, mental retardation, spastic diplegia or tetraplegia and epilepsy.
Parvaneh Karim-Zadeh
doaj   +1 more source

Sjögren: unique surname, two men, four syndromes and one disease [PDF]

Arquivos de Neuro-Psiquiatria
Henrik and Torsten Sjögren (/ˈʃoʊɡrən/ or SHOH–grən) were two Swedish physicians living in the same period, but completely unrelated, except for their notable contributions to Medicine. The first one described keratoconjunctivitis sicca, afterward called
José Vitor Alécio Rodrigues, Fábio Antônio Serra de Lima, Daniel Pereira Maurício de Barros, Gustavo Leite Franklin, Adriana Meira Tiburtino Nepomuceno, Alessandra de Sousa Braz, Hélio A. G. Teive, Alex T. Meira   +7 more
doaj   +2 more sources

Dupilumab Reduces Pruritus in Twins With Sjögren-Larsson Syndrome. [PDF]

Pediatr Dermatol
ABSTRACT Sjögren–Larsson Syndrome (SLS), now termed ALDH3A2‐syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4‐year‐old
Gallagher K, Yousif R, Hummel K, Paller AS.   +3 more
europepmc   +2 more sources

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome. [PDF]

Congenit Anom (Kyoto)
Abstract Sjögren‐Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the ALDH3A2 gene that encodes the fatty aldehyde dehydrogenase, fatty aldehyde dehydrogenase (FALDH); FALDH catalyzes several metabolic ...
Yamaguchi Y, Okuno H, Tokuoka S, Kita Y, Sanosaka T, Kohyama J, Kurosawa K, Sakai N, Miya F, Takahashi T, Kosaki K, Okano H.   +11 more
europepmc   +2 more sources

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1. [PDF]

Int J Dev Neurosci
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Vaia Y, Mura E, Bruschi F, Zambrano S, Brena M, Tadini G, Arrigoni F, Antonello CE, Uggetti C, Parazzini C, Veggiotti P, Tonduti D.   +11 more
europepmc   +2 more sources