Results 41 to 50 of about 1,180,431 (171)

Presentation of Sjogren Syndrome as Nodular Pulmonary Amyloidosis [PDF]

, 2022
Sjogren syndrome is an autoimmune disorder that leads to dryness in the eyes and mouth. Nodular pulmonary amyloidosis is a localized amyloid deposition pathology commonly seen with monoclonal lymphoproliferative disorders.
Malik, Devin, Singh, Harjinder, Patel, Parth, Zebda, Hazem, Ramanan, Sruthi   +4 more
core   +2 more sources

Patients with Sjogren-Larsson syndrome lack macular pigment. [PDF]

, 2010
Contains fulltext : 89820.pdf (Publisher’s version ) (Open Access)PURPOSE: Sjogren-Larsson syndrome (SLS), an autosomal recessive hereditary disorder with congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation ...
Willemsen, M.A.A.P., Veen, R.L. van der, Cruysberg, J.R.M., Fuijkschot, J., Cruysberg, J.R., Berendschot, T.T.J.M., Berendschot, T.T.J.M.; id_orcid, Berendschot, T.T., Willemsen, M.A., Theelen, T., van der Veen, R.L.   +10 more
core   +1 more source

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 561-578, June 2026.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

A Very Rare Neurocutaneous Disorder in 2 Siblings: Sjogren-Larsson Syndrome

, 2010
Sjogren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. It is caused by the deficient activity of fatty aldehyde dehydrogenase.
ÇAĞLAYAN, AHMET OKAY, Gumus, Hakan
core   +1 more source

Clinical Insights Regarding Oral Health Among Untreated and Positive Airway Pressure Treated Obstructive Sleep Apnea Patients

Journal of Sleep Research, Volume 35, Issue 3, June 2026.
ABSTRACT Oral health‐related side effects are common in patients with both untreated and PAP‐treated OSA and can hinder adherence to PAP treatment. Despite extensive research on OSA and PAP, oral health experiences of PAP professionals remain unexplored.
K. Berggren, H. Ahonen, U. Lindmark, A. Broström, O. Sunnergren   +4 more
wiley   +1 more source

Report of a Turkish child with Sjogren-Larsson syndrome associated with peripheral nerve involvement

, 2003
Sjogren-Larsson syndrome is a rare hereditary neurocutaneous disorder characterized by ichthyosis, spastic di- or tetra-plegia, and mild to moderate mental retardation.
Calka, O, Caksen, H, Metin, A, Cinal, A, Akdeniz, N, Akbayram, S, Anlar, O   +6 more
core   +1 more source

Congenital heart block associated with Sjögren syndrome: case report [PDF]

, 2009
Background: Congenital heart block is a rare complication of pregnancy associated with Sjögren Syndrome that may result in the death of the foetus or infant, or the need for pacing in the newborn or at a later stage.Case report: The case is presented of ...
Poate, Timothy W.J., Penelope J Shirlaw, Michael P Escudier, Shirlaw, Penelope J., Moutasim, Karwan A., Timothy WJ Poate, Escudier, Michael P., Karwan A Moutasim   +7 more
core   +1 more source

An interesting case of neurocutaneous syndrome [PDF]

, 2023
Neuroichthyosis is a group of rare genetically determined disease with cutaneous and neurological manifestations due to abnormalities in any of the following: lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. There are about
Ravikumar Veeramani, M. Ramachandran, Veeramani, Ravikumar, Shraddha K. Kedlaya, Palanisamy, Lenin Sankar, Ramachandran, M., Lenin Sankar Palanisamy, Kedlaya, Shraddha K.   +7 more
core   +1 more source

MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome Síndrome de Sjögren-Larsson: achados à ressonância magnética e espectroscopia de prótons em três pacientes

Arquivos de Neuro-Psiquiatria, 2006
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic
Mauro Nakayama, Daniel G.F. Távora, Thereza C.L. Alvim, Alexandre C.B. Araújo, Rômulo L. Gama   +4 more
doaj   +1 more source

Multilocus Genetic Variants in a Child With Neuro‐Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3–q32.11 Deletion

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuro‐ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5‐year‐old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis.
Bessan Hamed Dababseh, Ala'a S. Ghnimat, Lubna W. AbuHamdiya, Mones H. Atatre, Ahmad Batran, Mahdi W. Suboh   +5 more
wiley   +1 more source