Results 21 to 30 of about 4,802 (174)

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

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

JIMD Reports, 2021
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase.
Adam J. Guenzel, Andrea DeBarber, Kimiyo Raymond, Radhika Dhamija   +3 more
doaj   +1 more source

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

Frontiers in Neurology, 2022
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene.
Paulo Ribeiro Nóbrega, Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Helena Fussiger, Carolina de Figueiredo Santos, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto, Pedro Braga-Neto   +20 more
doaj   +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

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis

BMC Neurology, 2011
Background Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).
Tian Di, Zhang Zai-qiang
doaj   +1 more source

Diffuse plane xanthomas as the first manifestation of multiple myeloma. [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 11, Page 1451-1453, November 2025.
Koutra E, Lusmöller E, Ghanem H, Aumann A, Atzpodien J, Stadler R.   +5 more
europepmc   +2 more sources

Information Theory Analysis of CTX Shows Consistent Clinical Presentation. [PDF]

J Inherit Metab Dis
ABSTRACT Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile‐onset chronic diarrhea, juvenile‐onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction.
Hanson J, Bonnen PE.
europepmc   +2 more sources

Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population

Molecular Genetics and Metabolism Reports, 2015
Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis.
Atanu Kumar Dutta, Sumita Danda, Karthik Muthusamy, Mathew Alexander, Sniya Valsa Sudhakar, Samuel Hansdak, Rini Bandyopadhyay, G.B. Bakhya Shree, L. Rekha   +8 more
doaj   +1 more source

A rare metabolic disease: cerebrotendinous xanthomatosis

Van Tıp Dergisi, 2019
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2.
Tülay Kamaşak, Yeseren Nil Demirhan, Burcu Parıltan Kücükalioglu, Cavit Boz, Alper Han Cebi, İlker Eyüboğlu, Ali Cansu   +6 more
doaj   +1 more source

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

Frontiers in Psychiatry
Jongtae Kim, Jee Hyang Jeong, Kim Seong Hoon   +2 more
exaly   +2 more sources