5,755 results match your criteria Xanthomas


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

Probe-based confocal endomicroscopy is accurate for differentiating gastric lesions in patients in a Western center.

Chin J Cancer Res 2018 Oct;30(5):546-552

Endoscopy Unit of Department of Gastroenterology, São Paulo Cancer Institute, University of São Paulo Medical School (ICESP-HCFMUSP), São Paulo 01246-000, Brazil.

Objective: Probe-based confocal laser endomicroscopy (pCLE) technique may improve the diagnosis of gastric mucosal lesions allowing acquisition of high-resolution images at the cellular and microvascular levels. This study aims to evaluate the accuracy of pCLE for the differential diagnosis of non-neoplastic and neoplastic gastric lesions.

Methods: Twenty gastric mucosal lesions from 10 patients were evaluated during endoscopic procedure and were examined by pCLE. Read More

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October 2018
4 Reads

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

Achilles tendon thickening is associated with disease severity and plaque vulnerability in patients with coronary artery disease.

J Clin Lipidol 2018 Oct 29. Epub 2018 Oct 29.

Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan; Department of Cardiovascular Medicine, Kitasato University School of Medicine, Sagamihara, Japan.

Background: Tendon xanthomas are accumulations of collagen and macrophages, which contain cholesterol esters and a marker of high risk for coronary artery disease (CAD).

Objective: The aim of the article was to clarify whether the presence of Achilles tendon thickening (ATT) was associated with disease severity and plaque vulnerability in patients with CAD.

Methods: A total of 241 consecutive patients who underwent percutaneous coronary intervention and ATT assessment were analyzed. Read More

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October 2018
1 Read

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

Xanthomas and xantelasmas in primary biliary cholangitis.

Med Clin (Barc) 2018 Nov 20. Epub 2018 Nov 20.

Servicio de Medicina Interna, Hospital México, San José, Costa Rica.

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November 2018
1 Read

Recurrent tendosynovitis as a rare manifestation of a lipid disorder.

J Clin Lipidol 2018 Oct 24. Epub 2018 Oct 24.

Department of Internal Medicine V (Nephrology, Rheumatology, Hypertensiology, Endocrinolgy, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany; Mannheim Institute of Public Health, Social and Preventive Medicine, Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany. Electronic address:

A 33-year-old female had suffered from spontaneously recurrent bursitis and tendosynovitis/enthesitis of the patellar and Achilles tendons for about 10 years. The episodes of immobilization increased. Ultrasound imaging of the swollen and painful tendons showed chronic inflammation with neoangiogenesis within the tendons and hypoechoic lesions. Read More

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October 2018
1 Read

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

Eruptive xanthomas in a patient with soft-drink diabetic ketosis and apolipoprotein E4/2.

Endocr J 2018 Nov 2. Epub 2018 Nov 2.

Department of Diabetes and Metabolism, Tohoku University Hospital, Sendai, Miyagi 980-8575, Japan.

Soft-drink diabetic ketosis, characterized by acute onset ketosis induced by excessive ingestion of sugar-containing drinks, is often seen in obese, young patients, even with undiagnosed type 2 diabetes. We herein report a 15-year-old obese patient with the apolipoprotein E4/2 phenotype, in whom eruptive xanthomas lead to a diagnosis of soft-drink diabetic ketosis. He developed multiple asymptomatic yellowish papules on the auricles, back, buttocks and the extensor surfaces of the elbows and knees. Read More

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November 2018
10 Reads

Normolipemic Xanthomas in a Patient with Underlying Plasma Cell Dyscrasia.

Indian J Hematol Blood Transfus 2018 Oct 4;34(4):745-746. Epub 2018 Jun 4.

3Division of Hematology and Oncology, University of Arizona Cancer Center, PO Box 245024, 1515 N. Campbell Ave., Tucson, USA.

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October 2018
11 Reads

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

Palmar crease xanthomas in familial hypercholesterolemia.

Int J Dermatol 2018 Oct 24. Epub 2018 Oct 24.

Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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October 2018
1 Read

Bilateral xanthomas of tendoachilles in a slow learner adolescent - A rare case report of van bogaert scherer epstein disease.

Med J Malaysia 2018 Oct;73(5):321-322

Hospital Kulim, Department of Orthopaedics, Kulim, Kedah, Malaysia.

Van Bogaert Scherer Epstein Disease is a rare autosomal recessive condition involving abnormal deposition of cholesterol and cholestanol in various parts of body, various clinical symptoms manifest on different age group, significantly neurological impairment in late presentation. We are reporting a slow learner young lady presented with bilateral painless ankle swelling, our initial clinical impression were torn Achilles tendon or Haglund's deformity. On further detail history taking, it leads us towards this disease and confirmed with biopsy. Read More

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October 2018

Cholesteryl ester transfer protein: An enigmatic pharmacology - Antagonists and agonists.

Atherosclerosis 2018 Nov 1;278:286-298. Epub 2018 Oct 1.

Centro Dislipidemie, A.S.S.T. Grande Ospedale Metropolitano Niguarda, Milan, Italy.

The cholesteryl ester transfer protein (CETP) system moves cholesteryl esters (CE) from high density lipoproteins (HDL) to lower density lipoproteins, i.e. very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL) in exchange for triglycerides (TGs). Read More

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November 2018
5 Reads

Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.

Medicine (Baltimore) 2018 Oct;97(42):e12869

Department of Cardiology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders.

Rationale: Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis.

Patient Concerns: In this 13-year-old girl, multiple xanthomas began to develop from the first day of birth. Read More

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October 2018
5 Reads
5.720 Impact Factor

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition.

PLoS One 2018 17;13(10):e0204771. Epub 2018 Oct 17.

Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Bilbao, Spain.

Background And Aims: Pathogenic mutations in the Low Density Lipoprotein Receptor gene (LDLR) cause Familial Hypercholesterolemia (FH), one of the most common genetic disorders with a prevalence as high as 1 in 200 in some populations. FH is an autosomal dominant disorder of lipoprotein metabolism characterized by high blood cholesterol levels, deposits of cholesterol in peripheral tissues such as tendon xanthomas and accelerated atherosclerosis. To date, 2500 LDLR variants have been identified in the LDLR gene; however, only a minority of them have been experimentally characterized and proven to be pathogenic. Read More

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October 2018
3 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

The development of the Mexican Familial Hypercholesterolemia (FH) National Registry.

Atherosclerosis 2018 Oct;277:517-523

Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico; Departamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Mexico. Electronic address:

Background And Aims: In Mexico, familial hypercholesterolemia (FH) is, as in other parts of the world, largely underdiagnosed and undertreated, and represents a significant burden to the healthcare system. However, there is not enough information to design public policies against the disease. Genetic studies have shown that LDLR mutations are the most common cause, but in a large percentage of the cases, no mutation has been identified in the FH genes. Read More

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October 2018
1 Read

Prevalence of familial hypercholesterolemia in patients with acute coronary syndrome in Japan: Results of the EXPLORE-J study.

Atherosclerosis 2018 Oct;277:362-368

Division of Cardiovascular Medicine, Toho University Ohashi Medical Center, 2-17-6 Ohashi Meguro, Tokyo, 153-8515, Japan. Electronic address:

Background And Aims: Prevalence of familial hypercholesterolemia (FH), a common genetic disorder with a high risk for coronary artery disease (CAD), is high among CAD patients; however, data on FH prevalence among acute coronary syndrome (ACS) patients are limited. EXPLORE-J is the largest registry to diagnose FH among Japanese ACS patients using the 2012 Japan Atherosclerosis Society guidelines.

Methods: This prospective study consecutively recruited patients between April 2015 and August 2016 at 59 sites. Read More

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October 2018
2 Reads

Lipid-Related Lesions in Quaker Parrots ( Myiopsitta monachus).

Vet Pathol 2018 Sep 24:300985818800025. Epub 2018 Sep 24.

4 Department of Pathobiology, Ontario Veterinary College, University of Guelph, Guelph, ON, Canada.

The Quaker parrot has been used as a psittacine model to study clinical lipidology and lipid-related disorders. However, while Quaker parrots appear to be anecdotally susceptible to a variety of spontaneous dyslipidemic disorders and lesions caused by excess lipid accumulation, epidemiologic data are lacking. A multicenter retrospective study on 652 pathology submissions (411 necropsies and 243 biopsies) from Quaker parrots was performed by recording the final pathological diagnoses, age, and sex for each bird. Read More

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September 2018
1 Read

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

Evaluation of density gradient ultracentrifugation serum lipoprotein profiles in healthy dogs and dogs with exocrine pancreatic insufficiency.

J Vet Diagn Invest 2018 Nov 3;30(6):878-886. Epub 2018 Sep 3.

Gastrointestinal Laboratory, Department of Veterinary Small Animal Clinical Sciences (Minamoto, Parambeth, Lidbury, Suchodolski, and Steiner), Texas A&M University, College Station, TX.

Changes in proportions of lipoprotein classes have been described in disease states in humans. In veterinary medicine, hyperlipidemia can cause complications, such as cutaneous xanthomas, liver disease, cholelithiasis, pancreatitis, glomerular disease, lipemia retinalis, or peripheral neuropathy, but there are few reports regarding lipoproteins in diseased animals. For canine serum, we partially validated continuous lipoprotein density profiling (CLPDP), a novel density gradient ultracentrifugation technique. Read More

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November 2018
1 Read

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

Diffuse xanthomas with premature atherosclerosis: A case report.

Anatol J Cardiol 2018 Sep;20(3):E4

Department of Cardiology, Changhai Hospital, Second Military Medical University; Shanghai-China.

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September 2018

[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

Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family.

Exp Ther Med 2018 Aug 23;16(2):901-907. Epub 2018 May 23.

Center for Gene Diagnosis, Zhongnan Hospital, Wuhan University, Wuhan, Hubei 430071, P.R. China.

Mutations in the low density lipoprotein receptor (LDLR) gene serve a causative role in the pathophysiology of familial hypercholesterolemia (FH), a common autosomal inherited disorder characterized by abnormal lipid metabolism. The aim of the present study was to investigate genetic defects in a Chinese family with FH. Clinical features and family histories were collected, as were the results of various laboratory tests, including determinations of serum lipid concentrations, ultrasonography and angiography results. Read More

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August 2018
1 Read

Simplified Canadian Definition for Familial Hypercholesterolemia.

Can J Cardiol 2018 Sep 19;34(9):1210-1214. Epub 2018 May 19.

Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montreal, Quebec, Canada; Department of Medicine, McGill University, Royal Victoria Hospital, Montreal, Quebec, Canada.

Familial hypercholesterolemia (FH) is an autosomal codominant lipoprotein disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease. Definitions for FH rely on complex algorithms that are on the basis of levels of total or LDL-C, clinical features, family history, and DNA analysis that are often difficult to obtain. We propose a novel simplified definition for FH. Read More

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September 2018
4 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

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.

J Atheroscler Thromb 2018 Sep 20;25(9):783-789. Epub 2018 Jul 20.

Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medical Science.

Sitosterolemia is a rare inherited disease characterized by increased levels of plant sterols, such as sitosterol. The cause of this disease is ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively) gene mutations. Recent advances in genetics have revealed that the prevalence of subjects with deleterious mutations in ABCG5 and/or ABCG8 genes could be more than 1 in ~200,000 individuals among the general population. Read More

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September 2018
7 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

First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.

J Clin Lipidol 2018 Sep - Oct;12(5):1164-1168.e4. Epub 2018 Jun 20.

Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.

We present the first case of sitosterolemia caused by double heterozygous mutations in adenosine triphosphate-binding cassette subfamily G members 5 and 8 (ABCG5 and ABCG8) genes. A 1-year-old girl was admitted to Kanazawa University Hospital due to her hyper low-density lipoprotein (LDL)-cholesterolemia (453 mg/dL) as well as intertriginous xanthomas associated with breastfeeding. Initially, she was suspected as familial hypercholesterolemia (FH). Read More

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June 2018
4 Reads

Sitosterolemia: diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management.

Curr Med Chem 2018 Jul 5. Epub 2018 Jul 5.

Hospital Universitario de Salamanca-IBSAL-USAL - Department of Hematology Salamanca. Spain.

Sitosterolemia is a recessive inherited metabolic disorder of unknown prevalence, characterized by increased levels of plasma plant sterols. It is caused by 28 and 31 variants in ABCG5 and ABCG8 genes, respectively, and is characterized by a predisposition to hyperabsorption and accumulation of toxic levels of plant sterols in plasma. Its clinical picture is extremely heterogeneous. Read More

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July 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

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

JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.

Mol Med Rep 2018 Aug 25;18(2):2356-2364. Epub 2018 Jun 25.

Department of Pediatric Cardiology, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200092, P.R. China.

Alagille syndrome (ALGS) is primarily caused by jagged1 (JAG1) mutations, 70% of which are protein‑truncating mutations. However, no mutation hotspots have been discovered, and the pathogenic mechanism is not fully understood. The aim of the present study was to analyze two protein‑truncating JAG1 mutations detected in three Chinese ALGS patients. Read More

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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