Results 31 to 40 of about 7,684 (214)

A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor

Tremor and Other Hyperkinetic Movements, 2018
Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms.
Malco Rossi, Martin Cesarini, Emilia M. Gatto, Angel Cammarota, Marcelo Merello   +4 more
doaj   +1 more source

Outcomes of Surgical Management of Xanthelasma Palpebrarum

Archives of Plastic Surgery, 2013
Background Xanthelasma palpebrarum (XP) is a benign disorder manifesting as yellowish cholesterol-laden plaques on the eyelids. This paper presents the outcomes in patients with XP who have undergone surgical excision as the main modality of treatment.
Hoon Young Lee, Ung Sik Jin, Kyung Won Minn, Young-Oh Park   +3 more
doaj   +1 more source

Normolipemic xanthomatosis [PDF]

Postgraduate Medical Journal, 1995
Abstract A 20-year-old woman presented with tendon and tuberous xanthomas. Plasma lipid levels were normal. Xanthomatosis with normal lipid levels is rare.
R, Handa, K, Gupta, J P, Wali
openaire   +2 more sources

Cerebrotendinous xanthomatosis: a literature review and case study [PDF]

Frontiers in Cardiovascular Medicine
Levade Thierry, Matta Anthony
exaly   +2 more sources

Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice [PDF]

Frontiers in Psychiatry
Jongtae Kim, Kim Seong Hoon, Park Jeong Wook   +2 more
exaly   +2 more sources

An Unusual Case of Hand Xanthomatosis

Case Reports in Orthopedics, 2013
Tendon xanthomatosis often accompanies familial hypercholesterolaemia, but it can also occur in other pathologic states. Of the musculoskeletal system, the Achilles tendon is the most commonly effected tendon due to xanthomatosis.
Gazi Huri, Noah Joachim
doaj   +1 more source

Clinicopathological Features of a Lower Lip Verruciform Xanthoma: A Rare Case Report [PDF]

Journal of Clinical and Diagnostic Research
Verruciform Xanthoma (VX) is an uncommon, benign, asymptomatic lesion of the oral cavity. The incidence rate of VX is 0.025%, with the most common location reported to be the gingival margin, followed by the tongue, hard palate, buccal and labial mucosa.
Sayali Goraksha Lokhande, Sunil Surendra prasad Mishra, Bharti Eknath Helge, Ashutosh Sanjay Dighe   +3 more
doaj   +1 more source

Toward Newborn Screening of Cerebrotendinous Xanthomatosis: Results of a Biomarker Research Study Using 32,000 Newborn Dried Blood Spots

Genetics in Medicine, 2020
Purpose Cerebrotendinous xanthomatosis (CTX) is a treatable hereditary disorder caused by the deficiency of sterol 27-hydroxylase, which is encoded by the CYP27A1 gene.
Xinying Hong, Jessica Daiker, M. Sadilek, Andrea E DeBarber, J. Chiang, J. Duan, A. Bootsma, H. Huidekoper, F. Vaz, M. Gelb   +9 more
semanticscholar   +1 more source

Small Bowel Obstruction due to Intestinal Xanthomatosis

Case Reports in Pathology, 2015
Vast majority of bowel obstruction is due to postoperative adhesions, malignancy, intestinal inflammatory disease, and hernias; however, knowledge of other uncommon causes is critical to establish a prompt treatment and decrease mortality.
L. E. Barrera-Herrera, F. Arias, P. A. Rodríguez-Urrego, M. A. Palau-Lázaro   +3 more
doaj   +1 more source

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis [PDF]

Frontiers in Neurology
Guoliang Y, Zhaoxia W, Lin Z, Xuan C, Xiaodong Z, Xiaolian X, Yangli S, Tianli Z, Yanping Z, Jiangping W, Qing L.   +10 more
exaly   +2 more sources