Results 151 to 160 of about 2,317 (179)

Sjogren‐Larsson syndrome associated hypermelanosis

Journal of Cosmetic Dermatology, 2019
AbstractBackground/ObjectivesSjogren – Larsson syndrome (SLS) is a rare autosomal recessive disease of the mutation ALDH3A2 that identifies a part of fatty acids for fatty aldehyde dehydrogenase: NAD‐oxidoreductase enzyme complex. This study aimed to access variant ALDH3A2 gene coded for FALDH and products regulating pathogenic melanogenesis owing to ...
Yang‐Chun Xu, Ji‐Qiu Hou, Wen‐Jing Zhu, Ping Li   +3 more
openaire   +2 more sources

Sjogren-Larsson Syndrome

The Neurologist, 2009
Sjogren-Larsson syndrome (SLS) is characterized by the triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. The hallmark of SLS is ichthyosis. We report a case and review the major differential diagnosis of SLS.A 21-year-old woman presented with seizures, mental retardation, spastic diplegia, and ichthyosis since birth ...
Lívia Almeida, Dutra, Camila Catherine Henriques, de Aquino, Orlando Graziani Povoas, Barsottini   +2 more
openaire   +2 more sources

SjÖgren-Larsson Syndrome

2008
Sjogren-Larsson syndrome (SLS) is a metabolic disorder with neurocutaneous features inherited as an autosomal recessive trait (OMIM # 270200) characterized by a clinical triad of congenital ichthyosis, gradually developing spastic di- or tetraplegia and mental retardation (Gordon 2007; Rizzo 2006, 2007).
RUGGIERI, MARTINO, PASCUAL CASTROVIEJO I.   +1 more
openaire   +2 more sources

Sjogren Larsson syndrome: a case report

2015
Sjogren Larsson sendromu konjenital ihtiyozis, spastik diplejitetrapleji ve mental retardasyon He karakterize otozomal resesif geçişli bir hastalıktır. Hastalardaki temel patoloji yağ alkol oksıdasyon bozukluğundaki yetmezliktir. Bu çalışmada ihtiyozis, spastik dipleji, serebral kortikal atroji ve subdural efuzyon nedeniyle izlediğimiz 11 aylık bir kız
ÖZGEN, Dr. Ünsal, ŞENOL, Dr. Mustafa, ÖZCAN, Dr. Cemal, BÖLÜK, Dr. Ayhan, KARABİBER, Dr. Hamza, GÖĞCÜOĞLU, Dr. Meltem, EKMEKÇİ, Dr.hakan   +6 more
openaire   +2 more sources

[Sjogren-Larsson syndrome. Apropos of a case].

Annales de dermatologie et de venereologie, 1988
Sjögren-Larsson syndrome is a rare genodermatosis described by Sjögren and Larsson in 1957 (28) and characterized by ichthyosis, spastic di- or tetraplegia and oligophrenia. In the case reported here a female child, born to consanguineous parents, presented at birth as a "collodion baby".
J L, Bonafé, C, Peyraga, J M, Lafitte, R, Salvayre, P, Rochiccioli   +4 more
openaire   +1 more source

Sjogren-Larsson Syndrome

2001
Promotores : Sengers, R.C.A., Rotteveel, J.J., Gabreëls, F.J.M.
openaire   +1 more source

Sjogren - Larsson Syndrome: a case report.

Neurology India, 2002
Two male siblings aged 8 and 11 years, born of non-consanguineous parents, presented with classical triad of congenital ichthyosis, mental retardation and spastic diplegia. They had no eye, hair, nails and teeth changes. MRI showed diffuse dysmyelination.
A K, Dhanuka, M, Gupta
openaire   +1 more source

Sjogren-Larsson syndrome in clinical practice

2012
This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjogren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician ...
Fuijkschot, J., Theelen, T., Seijger, M.M., van der Graaf, M., van der Graaf, M., van der Graaf, M., de Groot, I.M., Wevers, R.A., Wevers, R.A., Wevers, R.A., Wanders, R.J., Waterham, H.R., Willemsen, M.A.A.P., Willemsen, M.A.A.P.   +13 more
openaire   +1 more source

The Sjogren-Larsson syndrome in a north Indian sibship

The Indian Journal of Pediatrics, 1991
B K, Thakur, E H, Smith
openaire   +2 more sources

<p>Sjogren-Larsson Syndrome: Mechanisms and Management</p>

The Application of Clinical Genetics, 2020
Parayil Sankaran Bindu
exaly