5,393 results match your criteria Xanthelasma


Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Neurology 2018 Dec 7. Epub 2018 Dec 7.

From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Neurology (B.M.L.S., A.V.), Canisius Wilhelmina Hospital, Nijmegen; Department of Pediatrics (H.H.H.), Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center-University Hospital, Rotterdam; Department of Neurology (B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour (B.P.C.v.d.W., R.A.W.), and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen; Department of Genetics (E.H.B.), University Medical Center Utrecht; Department of Internal Medicine (C.E.M.H.), Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam; Department of Internal Medicine (H.R.H.), Máxima Medical Center Eindhoven; Department of Internal Medicine (H.R.H.), Maastricht University Medical Center; and CAPHRI School for Public Health and Primary Care, Ageing and Long-Term Care (H.R.H.), Maastricht University, the Netherlands.

Objective: To evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX).

Methods: In this retrospective cohort study, we report the clinical long-term follow-up characteristics of 56 Dutch patients with CTX. Age at diagnosis was correlated with clinical characteristics and with the course of modified Rankin Scale (mRS) and Expanded Disability Status Scale (EDSS) scores at follow-up. Read More

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December 2018

Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider.

Neurology 2018 Dec 7. Epub 2018 Dec 7.

From the Department of Pediatrics and Neurology (G.V.R.), Division of Pediatric Neurology, Penn State Children's Hospital, Hershey, PA; and Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX.

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December 2018

Neuroimaging Applications in Chronic Ataxias.

Int Rev Neurobiol 2018 29;143:109-162. Epub 2018 Oct 29.

Nuclear Medicine, "Le Scotte" University Hospital, Siena, Italy.

Magnetic resonance imaging (MRI), single photon emission computed tomography (SPECT) and positron emission tomography (PET) are the main instruments for neuroimaging investigation of patients with chronic ataxia. MRI has a predominant diagnostic role in the single patient, based on the visual detection of three patterns of atrophy, namely, spinal atrophy, cortical cerebellar atrophy and olivopontocerebellar atrophy, which correlate with the aetiologies of inherited or sporadic ataxia. In fact spinal atrophy is observed in Friedreich ataxia, cortical cerebellar atrophy in Ataxia Telangectasia, gluten ataxia and Sporadic Adult Onset Ataxia and olivopontocerebellar atrophy in Multiple System Atrophy cerebellar type. Read More

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October 2018
2 Reads

Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1-/- mouse brain and plasma.

Biochim Biophys Acta Mol Cell Biol Lipids 2018 Nov 21. Epub 2018 Nov 21.

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea SA2 8PP, UK. Electronic address:

Cytochrome P450 (CYP) 27A1 is a key enzyme in both the acidic and neutral pathways of bile acid biosynthesis accepting cholesterol and ring-hydroxylated sterols as substrates introducing a (25R)26-hydroxy and ultimately a (25R)26-acid group to the sterol side-chain. In human, mutations in the CYP27A1 gene are the cause of the autosomal recessive disease cerebrotendinous xanthomatosis (CTX). Surprisingly, Cyp27a1 knockout mice (Cyp27a1-/-) do not present a CTX phenotype despite generating a similar global pattern of sterols. Read More

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November 2018
3 Reads

Halo formations around senile hemangiomas in diffuse plane normolipemic xanthomatosis associated with monoclonal gammopathy.

JAAD Case Rep 2018 Nov 10;4(10):1034-1036. Epub 2018 Nov 10.

Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.

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November 2018
1 Read

Management of Diffuse Xanthelasma Palpebrarum Using Trichloroacetic Acid Application to Reduce Lesions Followed by Surgical Excision.

Aesthet Surg J 2019 Jan;39(1):NP6-NP8

Ophthalmic Plastic and Reconstructive Surgery Division, Department of Ophthalmology and Visual Sciences, Federal University of Sao Paulo/UNIFESP, São Paulo, SP, Brazil.

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January 2019
2 Reads

Treatment of Grade I and II types of xanthelasma palpebrarum with intralesional heparin sodium.

Dermatol Ther 2018 Nov 24;31(6):e12723. Epub 2018 Oct 24.

Department of Dermatology, Zhongshan Hospital Xiamen University, Xiamen, Fujian, China.

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November 2018

Inflammasome Activation Aggravates Cutaneous Xanthomatosis and Atherosclerosis in ACAT1 (Acyl-CoA Cholesterol Acyltransferase 1) Deficiency in Bone Marrow.

Arterioscler Thromb Vasc Biol 2018 Nov;38(11):2576-2589

From the Division of Endocrinology and Metabolism, Department of Internal Medicine (T.W., M.T., D.Y., A.T., S.T., H.Y., S.N., K.E., S.I.), Jichi Medical University, Shimotsuke, Japan.

Objective- ACAT1 (Acyl-CoA cholesterol acyltransferase 1) esterifies cellular free cholesterol, thereby converting macrophages to cholesteryl ester-laden foam cells in atherosclerotic lesions and cutaneous xanthoma. Paradoxically, however, loss of ACAT1 in bone marrow causes the aggravation of atherosclerosis and the development of severe cutaneous xanthoma in hyperlipidemic mice. Recently, it has been reported that cholesterol crystals activate NLRP3 (NACHT, LRR [leucine-rich repeats], and PYD [pyrin domain] domain-containing protein 3) inflammasomes, thereby contributing to the development of atherosclerosis. Read More

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November 2018
2 Reads

Neck xanthogranuloma mimicking malignancy in a patient with diabetes mellitus: A case report and literature review.

Medicine (Baltimore) 2018 Oct;97(40):e12615

Department of Otolaryngology, Head and Neck Surgery, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan.

Rationale: Xanthogranulomatous inflammation (XGI) is a rare inflammatory process, which mostly affects the kidney and gallbladder. It usually simulates an aggressive neoplastic process. Occurrences in the neck are extremely rare and would usually be associated with a preexisting cyst or glandular tissues. Read More

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October 2018
6 Reads

Psychiatric Disorders Secondary to Neurometabolic Disorders.

Rev Colomb Psiquiatr 2018 Oct - Dec;47(4):244-251. Epub 2017 Jun 17.

Service Universitaire de Psychiatrie de l'Enfant et de l'Adolescent, Université de Nantes, Nantes, Francia.

Some diseases secondary to inborn errors of metabolism are associated with psychiatric disorders or minor neurological symptoms. The existence of some cases with exclusively psychiatric symptoms represents a diagnostic and therapeutic challenge. The aim of this article is to describe seven treatable neurometabolic disorders that should be taken into account in the psychiatric consultation as they manifest with psychiatric symptoms that mask the organic origin of the disorder. Read More

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June 2017
2 Reads

Cerebrotendinous xanthomatosis presenting with extensive cerebral cortex symptoms: A case report.

Clin Neurol Neurosurg 2018 Nov 20;174:217-219. Epub 2018 Sep 20.

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1, Honjo, Chuo-ku, Kumamoto 860-8556, Japan. Electronic address:

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November 2018
12 Reads

Two-year-old girl with tuberous xanthomas.

J Clin Pathol 2018 10;71(10):860-862

Medical School, University of Valencia, Valencia, Spain.

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October 2018
1 Read

Xanthomatous meningioma: A metaplastic or degenerative phenomenon?

Neuropathology 2018 Dec 5;38(6):619-623. Epub 2018 Sep 5.

Division of Neurosurgery, Department of Surgery, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latiff, Bandar Tun Razak, Kuala Lumpur, Malaysia.

Xanthomatous changes can be observed in various conditions including primary xanthomatosis that is linked to an underlying hypercholesterolemia and more commonly associated with secondary xanthomatous degenerative processes in neoplasm and chronic inflammation. Meningioma with extensive xanthomatous change is exceedingly rare. The presence of cholesterol clefts within this peculiar meningioma subtype has not been described. Read More

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December 2018
13 Reads

Familial hypercholesterolemia revealed by multiple xanthomas.

Pan Afr Med J 2018;30:29. Epub 2018 May 16.

Service of Endocrinology, Diabetology and Metabolic Diseases, University Hospital of Marrakech, Marrakech, Morocco.

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October 2018
4 Reads

Gastric xanthelasma associated with hyperplastic polyp and mucosal erosions: report of an unusual case and literature review.

Oxf Med Case Reports 2018 Aug 11;2018(8):omy051. Epub 2018 Aug 11.

Department of Pathology, Histopathology Unit, King Saud University, King Khalid University Hospital, Riyadh, Saudi Arabia.

Gastric xanthelasma is a rare benign tumor-like lesion which is usually observed as an incidental finding due to its asymptomatic presentation. Grossly, it is a well-demarcated yellow-white plaque which is microscopically formed by clusters of foamy macrophages in the lamina propria. The pathogenesis and clinical significance are not clear. Read More

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August 2018
1 Read

[Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis].

Rev Med Chil 2018 Jun;146(6):745-752

Departamento de Nutrición, Diabetes y Metabolismo, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Background: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the longterm complications observed in this disease.

Aim: To identify and hierarchize initial clinical signs of CTX to establish an early diagnostic suspicion index. Read More

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June 2018
9 Reads

Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment.

J Lipid Res 2018 Nov 22;59(11):2214-2222. Epub 2018 Aug 22.

Institute of Human Genetics, Galilee Medical Center, Naharia, Israel

Cerebrotendinous xanthomatosis (CTX) is a progressive metabolic leukodystrophy. Early identification and treatment from birth onward effectively provides a functional cure, but diagnosis is often delayed. We conducted a pilot study using a two-tier test for CTX to screen archived newborn dried bloodspots (DBSs) or samples collected prospectively from a high-risk Israeli newborn population. Read More

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November 2018
2 Reads

Fox-Fordyce disease: report of two cases with perifollicular xanthomatosis on histological image.

An Bras Dermatol 2018 Jul-Aug;93(4):562-565

Clínica Dermatológica Valdés - León, Guanajuato, Mexico.

Fox-Fordyce disease is a relatively infrequent pathology of the apocrine glands that affects almost exclusively young women. The disease is characterized by the presence of pruritic follicular papules mainly in the armpits that respond poorly to treatment and severely affect the patient's quality of life. We report two cases with clinical diagnosis and histopathological confirmation, presenting perifollicular xanthomatosis on histological examination, recently described as a distinctive, consistent, and specific feature of this disease. Read More

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September 2018
11 Reads

Movement disorders in cerebrotendinous xanthomatosis.

Parkinsonism Relat Disord 2018 Jul 19. Epub 2018 Jul 19.

Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands. Electronic address:

Cerebrotendinous xanthomatosis (CTX) is an inborn error of cholesterol and bile acid metabolism, leading to neuropsychiatric and systemic manifestations. Movement disorders have rarely been reported in CTX, while a detailed appreciation of the full phenotypic spectrum is required in order to prevent underdiagnosis of this disease. This review focuses on the frequency of more unusual, non-ataxia and non-spasticity movement disorders reported in CTX. Read More

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July 2018
2 Reads

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.

J Clin Lipidol 2018 Sep - Oct;12(5):1169-1178. Epub 2018 Jun 22.

Boston Heart Diagnostics, Framingham, MA, USA; Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University, Boston, MA, USA; The Dyslipidemia Foundation, Natick, MA, USA. Electronic address:

Background: Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to defective sterol 27-hydroxylase causing a lack of chenodeoxycholic acid (CDCA) production and high plasma cholestanol levels.

Objectives: Our objective was to review the diagnosis and treatment results in 43 CTX cases.

Methods: We conducted a careful review of the diagnosis, laboratory values, treatment, and clinical course in 43 CTX cases. Read More

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June 2018
8 Reads

Reconstruction of the Achilles tendon using quadriceps tendon graft in bilateral xanthomas secondary to familial hypercholesterolemia: A case report.

Eklem Hastalik Cerrahisi 2018 Aug;29(2):117-22

Department of Orthopedics and Traumatology, Metin Sabancı Baltalimanı Bone and Joint Diseases Training and Research Hospital, 34470 Sarıyer, İstanbul, Turkey.

Achilles tendon xanthomas are rarely seen masses that are highly associated with hyperlipidemia. They are manifested in two types: Xanthomas developed secondary to familial hypercholesterolemia and cerebrotendinous xanthomatoses. In this report, we present a case of bilateral Achilles tendon xanthoma secondary to familial hypercholesterolemia and resection along with a portion of the Achilles tendon. Read More

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August 2018
4 Reads

Cerebrotendinous xanthomatosis: The diagnostic challenge.

Med Clin (Barc) 2018 Jul 3. Epub 2018 Jul 3.

Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia. Electronic address:

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July 2018
10 Reads

Orbital, eyelid, and nasopharyngeal silicone oil granuloma presenting as ptosis & pseudo-xanthelasma.

Am J Ophthalmol Case Rep 2018 Sep 14;11:45-48. Epub 2018 May 14.

Department of Ophthalmology, Byers Eye Institute at Stanford University, 2452 Watson Court, Palo Alto, CA, United States.

Purpose: To highlight the presentation and management of a patient with eyelid, orbital and nasopharyngeal silicone oil migration through a glaucoma drainage implant presenting as pseudo-xanthelasma and ptosis.

Observations: A 68-year male presented with unilateral ptosis and presumed xanthelasma. He had a history of glaucoma drainage implant surgery, pseudophakia, and multiple retinal detachment repairs with silicone oil. Read More

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September 2018
1 Read

A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.

Tremor Other Hyperkinet Mov (N Y) 2018 17;8:538. Epub 2018 May 17.

Movement Disorders Section and Neurology Department, Raúl Carrea Institute for Neurological Research (FLENI), Buenos Aires, Argentina.

Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms.

Case Report: An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts.

Discussion: The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts. Read More

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November 2018
6 Reads

Identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in human cerebrospinal fluid and plasma.

Biochimie 2018 Oct 28;153:86-98. Epub 2018 Jun 28.

Institute of Life Science, Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, UK. Electronic address:

Dihydroxyoxocholestenoic acids are intermediates in bile acid biosynthesis. Here, using liquid chromatography - mass spectrometry, we confirm the identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in cerebrospinal fluid (CSF) based on comparisons to authentic standards and of 7α,12α-dihydroxy-3-oxocholest-4-en-26-oic and 7α,x-dihydroxy-3-oxocholest-4-en-26-oic (where hydroxylation is likely on C-22 or C-23) based on exact mass measurement and multistage fragmentation. Surprisingly, patients suffering from the inborn error of metabolism cerebrotendinous xanthomatosis, where the enzyme CYP27A1, which normally introduces the (25 R)26-carboxylic acid group to the sterol side-chain, is defective still synthesise 7α,24-dihydroxy-3-oxocholest-4-en-26-oic acid and also both 25 R- and 25 S-epimers of 7α,12α-dihydroxy-3-oxocholest-4-en-26-oic acid. Read More

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October 2018
7 Reads

Sustained clinical response after single course of rituximab as first-line monotherapy in adult-onset asthma and periocular xanthogranulomas syndrome associated with IgG4-related disease: A case report.

Medicine (Baltimore) 2018 Jun;97(26):e11143

Clinica Medica.

Rationale: IgG4-related disease (IgG4-RD) is an emerging immune-mediated disease characterized by multi-organ involvement and variable clinical behavior.

Patient Concerns: We describe the case of a 50-year-old woman affected by a rare variant of IgG4-RD, characterized by eyelid xanthelasmas, adult-onset asthma and salivary and lacrimal glands enlargement. Multiple lymphadenopathies and a pulmonary mass were present at initial evaluation. Read More

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June 2018
13 Reads

Network-based association analysis to infer new disease-gene relationships using large-scale protein interactions.

PLoS One 2018 27;13(6):e0199435. Epub 2018 Jun 27.

Advanced Virtual and Intelligent Computing (AVIC) Center, Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.

Protein-protein interactions integrated with disease-gene associations represent important information for revealing protein functions under disease conditions to improve the prevention, diagnosis, and treatment of complex diseases. Although several studies have attempted to identify disease-gene associations, the number of possible disease-gene associations is very small. High-throughput technologies have been established experimentally to identify the association between genes and diseases. Read More

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June 2018
9 Reads

Severe hypertriglyceridemia presenting as eruptive xanthomatosis.

J Family Med Prim Care 2018 Jan-Feb;7(1):267-270

Department of Internal Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA.

Eruptive xanthomatosis is described as the sudden eruption of erythematous yellow papules in the presence of hypertriglyceridemia, often associated with serum triglyceride levels above 2000 mg/dl. Severe hypertriglyceridemia can be caused by primary genetic mutations, secondary chronic diseases, or a combination of both. Uncontrolled diabetes mellitus is a known risk factor. Read More

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June 2018
12 Reads

Laboratory investigations.

Handb Clin Neurol 2018 ;154:287-298

Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland; Departments of Neurology and Ophthalmology, University Hospital Zurich, University of Zurich, Switzerland.

This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, other vitamin deficiencies, and endocrine disorders should also be kept in mind. Read More

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September 2018
6 Reads

[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].

Zhonghua Er Ke Za Zhi 2018 Jun;56(6):435-439

Department of Pediatric Endocrinology/Genetics, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.

To investigate clinical, molecular genetic characteristics, and treatment outcomes of 3 children with sitosterolemia. Three cases of children presented with multiple xanthomas during June 2016 to June 2017 were included. The clinical manifestations, laboratory examinations and follow-up data were retrospectively analyzed. Read More

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June 2018
9 Reads

MECHANISMS IN ENDOCRINOLOGY: Hypophysitis: diagnosis and treatment.

Eur J Endocrinol 2018 Sep 7;179(3):R151-R163. Epub 2018 Jun 7.

Department of EndocrinologyGuy's & St. Thomas' NHS Foundation Trust, London, UK

Hypophysitis is a rare condition characterised by inflammation of the pituitary gland, usually resulting in hypopituitarism and pituitary enlargement. Pituitary inflammation can occur as a primary hypophysitis (most commonly lymphocytic, granulomatous or xanthomatous disease) or as secondary hypophysitis (as a result of systemic diseases, immunotherapy or alternative sella-based pathologies). Hypophysitis can be classified using anatomical, histopathological and aetiological criteria. Read More

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September 2018
2 Reads

Naturopathic Self-Treatment of an Atypical Fibroxanthoma: Lessons for Dermatologic Surgery.

J Drugs Dermatol 2018 Jun;17(6):683-685

Background: Alternative therapies are favored by some patients. In skin cancer, this may be to try to avoid surgery out of fear for the procedure and its functional or cosmetic consequences. Frequently, use of these therapies is not curative and can cause harm. Read More

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June 2018
2 Reads

Association of Achilles tendon thickness and LDL-cholesterol levels in patients with hypercholesterolemia.

Lipids Health Dis 2018 Jun 1;17(1):131. Epub 2018 Jun 1.

Division of Cardiology, Keenan Research Center for Biomedical Science at the Li Ka Shing Knowledge Institute, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.

Background: Achilles tendons are the most common sites of tendon xanthomas that are commonly caused by disturbance of lipid metabolism. Achilles tendon thickening is the early characteristic of Achilles tendon xanthomas. The relationship between Achilles tendon thickness (ATT) and LDL-C levels, and risk factors of ATT in patients with hypercholesterolemia, have thus far been poorly documented. Read More

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June 2018
2 Reads

[Eruptive Xanthomas: A Cardinal Manifestation of Serious Metabolic Disease].

Acta Med Port 2018 Apr 30;31(4):219-222. Epub 2018 Apr 30.

Serviço de Dermatologia. Centro Hospitalar e Universitário de Coimbra. Coimbra, Portugal.

Eruptive cutaneous xanthomas develop as a result of rapid intracellular and dermal deposition of lipids and are a cardinal sign of high cardiovascular risk. We describe the case of a 47-year-old male with multiple dome-shaped, yellowish and firm, slightly pruriginous papules distributed over the buttocks, lumbar region, abdominal wall, elbows and neck, for about two months. Previous medical history included alcohol abuse, non-medicated type 2 diabetes mellitus, dyslipidemia and recent onset of therapy with olanzapine for depressive syndrome. Read More

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April 2018
8 Reads

[Frontal tuberous xanthomas with xanthelasma: one case report].

Authors:

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Apr;32(8):627-628

The male patient of 51 years old was admitted due to find forehead tumor for 8 years. Auxiliary examination: platelet 80×10⁸/L, heterosexual platelet morphology examination showed microscopic see platelet scattered more easily to large and giant platelet-based, part of the platelet particles to reduce. High-density lipoprotein:0. Read More

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April 2018
10 Reads

Liver transplantation due to cerebrotendinous xanthomatosis end-stage liver disease.

World J Pediatr 2018 08 23;14(4):414-415. Epub 2018 May 23.

Department of General Surgery, Affiliated Huashan Hospital of Fudan University, 796 Jiang Su Road, Shanghai, 200040, China.

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August 2018
13 Reads

Severe xanthomatosis in heterozygous familial hypercholesterolemia.

J Clin Lipidol 2018 Jul - Aug;12(4):872-877. Epub 2018 Apr 3.

Division of Cardiology, Department of Pathology, McGill University Health Centre, Montreal, Canada.

Background: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p. Read More

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April 2018
14 Reads

Unravelling the NERDS syndrome.

BMJ Case Rep 2018 May 12;2018. Epub 2018 May 12.

Department of Rheumatology, All India Institute of Medical Sciences, New Delhi, India.

A 22-year-old man presented with symmetric polyarthritis, pruritus and deviation of angle of mouth to the right side since the last 7 years. His symptoms were persistent despite receiving ayurvedic medications and symptomatic therapy. Examination revealed dry skin, cutaneous nodules, xanthelasma, periarticular non-tender swellings, pitting oedema of hands and feet and lower motor neuron type right facial palsy. Read More

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May 2018
5 Reads

Xanthoma Striatum Palmare.

N Engl J Med 2018 May;378(19):e26

Klinikum der Universität München, Munich, Germany

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May 2018
3 Reads

Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline.

Cytopathology 2018 Oct 14;29(5):482-485. Epub 2018 Jun 14.

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

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October 2018
1 Read

Xanthelasma: An Update on Treatment Modalities.

J Cutan Aesthet Surg 2018 Jan-Mar;11(1):1-6

Guy's & St Thomas' Hospital, London, UK.

Xanthelasmas are localized accumulation of lipid deposits on the eyelids. Lesions are typically asymptomatic and treatment is often sought for cosmetic purposes. Unfortunately, there is paucity of strong evidence in the literature for the effective treatment of normolipidemic xanthelasmas. Read More

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May 2018
17 Reads

Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole.

J Clin Neurosci 2018 Jul 3;53:263-264. Epub 2018 May 3.

Department of Neurology, Thomas Jefferson University, 901 Walnut St, Philadelphia, PA 19107, USA. Electronic address:

Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disorder due to mutations in the CYP27A1 gene resulting in both systemic and neurologic manifestations from accumulation and deposition of cholestanol in tissues. Chenodeoxycholic Acid (CDCA) is the standard medical therapy, resulting in decreased cholestanol synthesis, however, neurologic improvement is typically not seen. Riluzole may have a symptomatic benefit in ataxia from a presumed protective effect on Purkinje cells. Read More

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July 2018
16 Reads

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Lipids Health Dis 2018 May 2;17(1):100. Epub 2018 May 2.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo, 00800, Sri Lanka.

Background: Hypercholesterolemia is a major determinant of cardiovascular disease-associated morbidity and mortality. Mutations in the LDL-receptor (LDLR) gene are implicated in the majority of the cases with familial hypercholesterolemia (FH). However, the spectrum of mutations in the LDLR gene in Sri Lankan patients has not been investigated. Read More

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May 2018
3 Reads

A tale of two clones: Caldesmon staining in the differentiation of cutaneous spindle cell neoplasms.

J Cutan Pathol 2018 Aug 22;45(8):581-587. Epub 2018 May 22.

Division of Dermatology, Washington University School of Medicine, Saint Louis, Missouri.

Background: We sought to compare the sensitivity and specificity of 2 different caldesmon antibodies in differentiating leiomyosarcoma from other cutaneous spindle cell neoplasms.

Methods: Representative cutaneous spindle cell neoplasms were identified, including leiomyosarcoma, atypical fibroxanthoma, dermatomyofibroma and spindle cell squamous cell carcinoma. Immunohistochemistry was performed with antibodies directed toward caldesmon, smooth-muscle actin (SMA) and desmin. Read More

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Diagnostic accuracy of MDCT in differentiating gallbladder cancer from acute and xanthogranulomatous cholecystitis.

Clin Imaging 2018 Jul - Aug;50:223-228. Epub 2018 Apr 14.

Department of Radiology, University of Michigan Health System, 1500 E. Medical Center Dr., Ann Arbor, MI 48109, United States.

Objective: To determine the diagnostic accuracy of multi-detector CT (MDCT) for differentiating gallbladder cancer from acute and xanthogranulomatous cholecystitis using previously described imaging features.

Methods: In this IRB approved HIPAA-compliant retrospective cohort study, contrast-enhanced MDCT of histologically confirmed acute cholecystitis (n = 17), xanthogranulomatous cholecystitis (n = 25), and gallbladder cancer (n = 18) were reviewed independently by three abdominal radiologists blinded to outcome. The primary outcome was the diagnostic accuracy of MDCT for the differentiation of gallbladder cancer from cholecystitis (acute and xanthogranulomatous) using various imaging parameters. Read More

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October 2018
6 Reads
0.600 Impact Factor

Metastatic melanoma with balloon/histiocytoid cytomorphology after treatment with immunotherapy: A histologic mimic and diagnostic pitfall.

J Cutan Pathol 2018 Jul 18;45(7):545-549. Epub 2018 May 18.

Department of Pathology, University of Texas M.D. Anderson Cancer Center, Houston, Texas.

Epithelioid cells with foamy cytoplasm (histiocytoid features) are typical histopathologic findings among benign and malignant histiocytic neoplasms such as xanthoma and atypical fibroxanthoma. However, these changes are unusual in melanoma, which is typically composed of nested and variably pigmented atypical epithelioid cells. Here, we report a patient with metastatic melanoma in lymph nodes presenting with prominent balloon cell/histiocytoid features expressing melanocytic markers, after treatment with nivolumab. Read More

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July 2018
8 Reads
1.560 Impact Factor

Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation.

J Lipid Res 2018 Jun 6;59(6):1058-1070. Epub 2018 Apr 6.

Swansea University Medical School, Swansea SA2 8PP, Wales, United Kingdom

7-Oxocholesterol (7-OC), 5,6-epoxycholesterol (5,6-EC), and its hydrolysis product cholestane-3β,5α,6β-triol (3β,5α,6β-triol) are normally minor oxysterols in human samples; however, in disease, their levels may be greatly elevated. This is the case in plasma from patients suffering from some lysosomal storage disorders, e.g. Read More

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June 2018
10 Reads

A Rare Pathology of Difficult Laparoscopic Cholecystectomy: Xanthogranulomatous Cholecystitis.

J Coll Physicians Surg Pak 2018 Apr;28(4):330-331

Barnsley Hospital NHS Foundation Trust, UK.

Xanthogranulomatous cholecystitis (XGC) is a rare inflammatory condition of the gallbladder (GB). Preoperatively, it is a diagnostic challenge. One thousand and seventy nine laparoscopic cholecystectomy (LC) patients from September 2012 to June 2015 were retrospectively reviewed. Read More

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April 2018
24 Reads