Results 21 to 30 of about 7,351 (200)
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
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
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Cerebellum: an explanation for dystonia? [PDF]
, 2017 Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas.
Berardelli, Alfredo, Bologna, Matteo
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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
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
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A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]
, 2014 Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève +14 more
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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
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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 +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 +20 more
doaj +1 more source
Radiotherapy in langerhans cell histiocytosis : a rare indication in a rare disease [PDF]
, 2013 Introduction: Langerhans Cell Histiocytosis (LCH) represents a rare benign disorder, previously designated as "Histiocytosis X", "Type II Histiocytosis" or "Langerhans Cell Granulomatosis".
Bruns, Frank +8 more
core +3 more sources