Results 21 to 30 of about 1,277,361 (159)

Anesthetic Considerations for Sjögren-Larsson Syndrome

Graduate Medical Education Research Journal, 2020
Mentor: Michelle LeRiger, Marcellene Franzen, Kaitlyn Pellegrino Program: Anesthesiology Type: Case Report Background: Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by a mutation in the gene encoding fatty ...
Maireen Miravite, Michelle LeRiger, Marcellene Franzen, Kaitlyn Pellegrino   +3 more
doaj   +4 more sources

Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report [PDF]

Clinical, Cosmetic and Investigational Dermatology
Canmiao Zhao, Na Tao, Liping Ge, Meiyuan Sun, Yanfang Su, Yang Yang, Fang Xu, Qi Huang, Lijun XuDepartment of Endosecretory Genetic and Metabolic Diseases, Kunming Children’s Hospital, Kunming, 650100, People’s Republic of China*These authors ...
Zhao C, Tao N, Ge L, Sun M, Su Y, Yang Y, Xu F, Huang Q, Xu L   +8 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

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

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

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

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

Sjogren-Larsson syndrome in dizygous twin sisters

, 1980
Two dizygous twin sisters with the Sjogren-Larsson syndrome are described. There was parental consanguinity, and the condition is inherited as an autosomal recessive. The main features are mental retardation, spastic diplegia and ichthyosis.
David, T. J.
core   +10 more sources

Sjogren-Larsson Syndrome: A Rare Case Report. [PDF]

Indian Dermatol Online J, 2018
Shah V, Rambhia K, Mukhi J, Singh RP.
europepmc   +3 more sources

Congenital Ichthyosis and Spastic Diplegia: Sjögren–Larsson Syndrome [PDF]

Indian Dermatology Online Journal
Hsi-Ling Liu, Yueh-Feng Sung, Chien-Ping Chiang   +2 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