Results 31 to 40 of about 6,190 (205)
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 +4 more
doaj +1 more source
Skin manifestations of secondary dyslipidemia: a case report
Российский кардиологический журнал, 2022 In the presented case report, 27-year-old female patient consulted a dermatologist and a lipidologist due to the appearance of small red spots on the skin. At the stage of examination in the lipid center, the patient was diagnosed with diabetes.
Z. F. Kim +3 more
doaj +1 more source
Multitendon xanthomatosis in a normo-cholesterolemic patient [PDF]
, 2010 We present a rare case of multisite xanthomatosis occurring in a 38-year-old normocholesterolemic man without a familial history. More commonly, these conditions are associated with familial hypercholesterolemia and cerebrotendinous xanthomatosis. Tendon
Dagum, Alex +2 more
core +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 +3 more
doaj +1 more source
, 1988 We report two additional cases of colonic xanthomatosis associated with persistent rectal symptoms. Disordered colonic motility in the areas of lipid infiltration was documented in one patient.
Nostrant, Timothy T. +3 more
core +1 more source
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
Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene [PDF]
, 2018 Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum ...
Ai Haraguchi +31 more
core +1 more source
Clinicopathological Features of a Lower Lip Verruciform Xanthoma: A Rare Case Report [PDF]
Journal of Clinical and Diagnostic ResearchVerruciform 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 +3 more
doaj +1 more source
A case report on cerebrotendinous xanthomatosis [PDF]
, 2017 Cerebrotendinous xanthomatosis (CTX) is a rare hereditary neuro-metabolic disease in which deposition of cholesterol and cholestanol occurs in various tissues including CNS.
John, Mareena +4 more
core +1 more source