Results 61 to 70 of about 4,802 (174)

Xanthoma Disseminatum with Tumor-Like Lesion on Face

Case Reports in Dermatological Medicine, 2014
Xanthoma disseminatum (XD) is a rare benign mucocutaneous xanthomatosis that is classified as a benign non-Langerhans cell histiocytosis. We report a 62-year-old man who presented with widespread yellow-brown papulonodular and tumoral lesions on face ...
Habib Ansarin, Hoda Berenji Ardestani, Seyed Mehdi Tabaie, Nasrin Shayanfar   +3 more
doaj   +1 more source

CURE ID: A Platform to Collect Real‐World Treatment Data for Drug Repurposing in Rare Genetic Disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 199, Issue 3, Page 189-193, September 2025.
ABSTRACT Rare diseases collectively affect millions of Americans, but less than 5% have approved treatments, and new drug development remains limited. For such diseases, drug repurposing may be an effective strategy to find new treatment options. In the rare genetic disorder community, drugs are frequently prescribed off‐label.
Tahsin Farid, Maura R. Z. Ruzhnikov, Mili Duggal, Keyla C. Tumas, Shira Strongin, Eric Sid, Sarah R. Fuchs, Leonard Sacks, Dominique C. Pichard, Catherine Pilgrim‐Grayson, Ewy A. Mathé, Heather A. Stone   +11 more
wiley   +1 more source

Cerebrotendinous Xanthomatosis In A Family

Indian Journal of Dermatology, 1999
A family consisting of a brother (11 years) and his twin sisters (13 years) with cerebrotendinous xanthomatosis is presented. The brother had bilateral achilles tendon xanthoma, low intelligence, poor memory with early cerebellar signs.
Chatterjee Gobinda, Chakraborty Indranil, Kanti Das Tushar, Datta Chhanda   +3 more
doaj  

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

Orphanet Journal of Rare Diseases, 2019
Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have
Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni, Zhi-Ying Wu   +5 more
doaj   +1 more source

Alagille Syndrome: Resolution of Xanthomas

Canadian Journal of Gastroenterology, 1995
Alagille syndrome is a rare autosomal dominant disorder characterized by chronic cholestasis due to paucity of intrahepatic biliary ducts, characteristic facies, peripheral pulmonary stenosis, ocular posterior embryotoxon and skeletal abnormalities. Very
NJ Leonard, V Dias, HG Parsons
doaj   +1 more source

Cerebrotendinous xanthomatosis - A case report

Indian Journal of Radiology and Imaging, 2019
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and ...
Arshed Hussain Parry, Abdul Haseeb Wani, Muiez Bashir, Tariq A Gojwari   +3 more
doaj   +1 more source

Tendon xanthomas as indicators of atherosclerotic burden on coronary arteries

Indian Heart Journal, 2013
The presence of tendon xanthomas is an almost certain indicator of familial hypercholesterolemia (FH). They also reflect coronary atherosclerotic burden and therefore must be treated aggressively.
Shivanand Patil, Jayashree Kharge, Vittal Bagi, Rangaraj Ramalingam   +3 more
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

From Bacteria to Benign Lesions: The Possible Role of Helicobacter pylori in the Pathogenesis of Gastric Xanthoma

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Xanthomatosis is a benign condition characterized by the local accumulation of cholesterol-rich macrophages, typically found in the skin. While xanthomatosis can occur in other parts of the body, it may not always be associated with hyperlipidemia ...
Yaminy P. Ingale, Rutika Ghatge, Ranjit Pawar, Narendra C. Kale   +3 more
doaj   +1 more source

Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.

Journal of Lipid Research, 1985
Tissue sterol composition was determined in an 18-year-old male with sitosterolemia with xanthomatosis who died suddenly and whose coronary and aortic vessels showed extensive atherosclerosis and, for comparison, in an 18-year-old male with minimal ...
G Salen, I Horak, M Rothkopf, J L Cohen, J Speck, G S Tint, V Shore, B Dayal, T Chen, S Shefer   +9 more
doaj   +1 more source