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    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 Apr 6. Epub 2018 Apr 6.
    Swansea University, 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

    Clinical, Anthropometric and Biochemical Characteristics of Patients with or without Genetically Confirmed Familial Hypercholesterolemia.
    Arq Bras Cardiol 2018 Feb;110(2):119-123
    Instituto Nacional de Cardiologia, Rio de Janeiro, RJ - Brazil.
    Background: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder, characterized by a high level of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular disease.

    Objective: To evaluate clinical and anthropometric characteristics of patients with the familiar hypercholesterolemia (FH) phenotype, with or without genetic confirmation of FH.

    Methods: Forty-five patients with LDL-C > 190 mg/dl were genotyped for six FH-related genes: LDLR, APOB, PCSK9, LDLRAP1, LIPA and APOE. Read More

    Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.
    J Inherit Metab Dis 2018 Mar 20. Epub 2018 Mar 20.
    Centre de Référence Neurométabolique Adulte, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
    Background: Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disease related to sterols metabolism. It affects both central and peripheral nervous systems but treatment with chenodeoxycholic acid (CDCA) has been reported to stabilize clinical scores and improve nerve conduction parameters. Few quantitative brain structural studies have been conducted to assess the effect of CDCA in CTX. Read More

    Sporadic Minute Pharyngeal Xanthomas Detected Incidentally During Esophagogastroduodenoscopy: A Case Series.
    Head Neck Pathol 2018 Mar 19. Epub 2018 Mar 19.
    Department of Gastrointestinal Oncology, Osaka International Cancer Institute, 3-1-69, Otemae, Chuo-ku, Osaka, 541-8567, Japan.
    Pharyngeal xanthomas are considered rare, and no reports have described their endoscopic appearance under magnifying or image-enhanced endoscopy. We report three cases of asymptomatic sporadic pharyngeal xanthoma that were detected incidentally during routine esophagogastroduodenoscopy. All the patients were men and had a solitary lesion of about 1 mm in size. Read More

    Long-wave plasma radiofrequency ablation for treatment of xanthelasma palpebrarum.
    J Cosmet Dermatol 2018 Mar 1. Epub 2018 Mar 1.
    Department of Dermatology and Venereology, University of Campania "Luigi Vanvitelli", Napoli, Italy.
    Xanthelasma palpebrarum is the most common type of xanthoma affecting the eyelids. It is characterized by asymptomatic soft yellowish macules, papules, or plaques over the upper and lower eyelids. Many treatments are available for management of xanthelasma palpebrarum, the most commonly used include surgical excision, ablative CO or erbium lasers, nonablative Q-switched Nd:YAG laser, trichloroacetic acid peeling, and radiofrequency ablation. Read More

    Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
    J Inherit Metab Dis 2018 Feb 26. Epub 2018 Feb 26.
    Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, ACC 708, Boston, MA, 02114, USA.
    Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurodegenerative disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is not well understood. The object of this study was to determine neurological progression in CTX. Read More

    Diffuse Normolipemic Plane Xanthoma (DNPX) of the Neck without Xanthelasma Palpebrum.
    Open Access Maced J Med Sci 2018 Jan 10;6(1):123-125. Epub 2018 Jan 10.
    University G. Marconi of Rome - Dermatology and Venereology, Rome, Italy.
    Diffuse normolipemic plane xanthoma (DNPX) is an uncommon subtype of non-Langerhans histiocytosis. DNPX is characterised by xanthelasma palpebrarum, diffuse plane xanthoma of the head, neck, trunk, or extremities, and normal plasma lipid levels. The neck is the most common site. Read More

    Central xanthoma of the mandible associated with hyperlipidemia: A rare presentation.
    Int J Pediatr Otorhinolaryngol 2018 Feb 5;105:75-78. Epub 2017 Dec 5.
    Department of Oncology and Diagnostic Sciences, University of Maryland School of Dentistry, Baltimore, MD, United States; Molecular and Structural Biology Branch, The Marlene and Stewart Greenebaum Center, Baltimore, MD, United States. Electronic address:
    Xanthoma is a common, self-limiting cutaneous lesion of non-Langerhans cell, lipid-laden foamy histiocytes that is often concomitant with hyperlipidemia. The intraosseous counterpart is rarely encountered and typically presents as a painless, expansile osteolytic process in the context of hyperlipidemia or normolipidemia. Only a scant number of gnathic xanthomas have been reported in the otolaryngologic literature. Read More

    A Case of Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
    Intern Med 2018 Feb 9. Epub 2018 Feb 9.
    Department of Endocrinology and Metabolism, Nagasaki University Hospital, Japan.
    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 cholesterol or triglyceride levels. CTX is caused by a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. We herein report a 50-year-old Japanese woman with late-onset CTX who had no relevant symptoms before the development of bilateral Achilles tendon xanthomas in middle age. Read More

    Relationship Between Xanthelasma Palpebrarum and Hyperlipidemia.
    Ann Plast Surg 2018 Feb;80(2S Suppl 1):S84-S86
    Background: Xanthelasma palpebrarum is a common periorbital lesion that occurs in middle-aged woman. Dyslipidemia was strongly associated with the occurrence of xanthelasma. Different treatment methods for xanthelasma were applied with comparable results. Read More

    Xanthomatosis in bilateral hands mimicking rheumatoid arthritis: A case report.
    Medicine (Baltimore) 2017 Dec;96(51):e9399
    Department of Radiology, The Second Xiangya Hospital of Central South University, Changsha, Hunan.
    Rationale: Xanthomatosis often accompanies familial hypercholesterolemia. This disease usually occurs in tendons, most commonly located in the Achilles tendon; occasionally it can also be seen in other systems. Although there are previous reports for bilateral hand extensor tendon involvement, to our knowledge there is no report in English literature regarding bilateral hands with small joint synovium presenting as rheumatoid arthritis. Read More

    Nationwide survey on cerebrotendinous xanthomatosis in Japan.
    J Hum Genet 2018 Mar 10;63(3):271-280. Epub 2018 Jan 10.
    Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
    Cerebrotendinous xanthomatosis (CTX) is likely to be underdiagnosed and precise epidemiological characteristics of CTX are largely unknown as knowledge on the disorder is based mainly on case reports. We conducted a nationwide survey on CTX to elucidate the frequency, clinical picture, and molecular biological background of Japanese CTX patients. In this first Japanese nationwide survey on CTX, 2541 questionnaires were sent to clinical departments across Japan. Read More

    Adulthood leukodystrophies.
    Nat Rev Neurol 2018 Feb 5;14(2):94-105. Epub 2018 Jan 5.
    Division of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
    The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood. We summarize 20 leukodystrophies with adult presentations, providing information on the underlying genetic mutations and on biochemical assays that aid diagnosis, where available. Read More

    Xanthelasma palpebrarum - a brief review.
    Clin Cosmet Investig Dermatol 2018 18;11:1-5. Epub 2017 Dec 18.
    Department of Dermatology, Venereology and Leprosy, Pramukhswami Medical College, Gujarat, India.
    Xanthelasma palpebrarum is the most common cutaneous xanthoma, characterized by yellowish plaques over eyelids - most commonly, over the inner canthus of the upper lid. It is triggered by hyperlipidemia, thyroid dysfunction, and diabetes mellitus. Xanthelasma results from perivascular infiltration of mono- and multinucleated foam cells within lipid-laden cytoplasmic vacuoles in the superficial reticular dermis. Read More

    Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.
    Intern Med 2018 Apr 21;57(8):1119-1122. Epub 2017 Dec 21.
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine, Japan.
    A 63-year-old man was hospitalized due to an abdominal pulsatile mass. Computed tomography revealed a saccular type abdominal aortic aneurysm, the diameter of which was 52 mm. A physical examination revealed prominent Achilles tendon thickness and plantar xanthomas. Read More

    Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
    J Neurol 2018 Feb 19;265(2):388-393. Epub 2017 Dec 19.
    Department of Neurology with Friedrich-Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.
    Cerebrotendinous xanthomatosis (CTX, MIM 213700) is a rare autosomal recessive lipid storage disorder caused by CYP27A1 mutations. Treatment with chenodeoxycholic acid (CDCA) may slow the progression of the disease and reverse some symptoms in a proportion of patients. In a non-consanguineous Caucasian family, two siblings with CTX were evaluated before treatment and prospectively followed-up every 6 months after starting CDCA therapy, using systematic clinical examination, neuropsychological tests, laboratory tests, electroencephalography (EEG) and brain MRI, diffusion tensor imaging (DTI) and tractography. Read More

    Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
    J Neurol Sci 2017 Dec 10;383:18-25. Epub 2017 Oct 10.
    Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:
    Background: Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize clinical and molecular findings of HSP families from Rio Grande do Sul, Brazil; and to evaluate the diagnostic yield of a next-generation sequencing (NGS) panel with twelve HSP-related genes.

    Methods: A consecutive series of HSP index cases with familial recurrence of spasticity, consanguinity or thin corpus callosum (TCC) were included in this cross-sectional study. Read More

    Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.
    J Orthop Case Rep 2017 Sep-Oct;7(5):54-58
    Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
    Introduction: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations of the CYP27A1 gene and deficiency of the sterol-27-hydroxylase enzyme in bile acid biosynthesis. It is characterized by the accumulation of cholestanol and bile alcohols in plasma, the formation of xanthomatous lesions in various tissues, and organ degeneration. This disorder is also associated with osteoporosis and increased risk of fracture. Read More

    Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer.
    Curr Opin Clin Nutr Metab Care 2018 Mar;21(2):90-96
    Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, UK.
    Purpose Of Review: To update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.

    Recent Findings: Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. Although quantitatively minor, these pathways may still be important in healthy individuals. Read More

    Gastric xanthelasma and metabolic disorders: A large retrospective study among Chinese population.
    World J Gastroenterol 2017 Nov;23(43):7756-7764
    Department of Gastroenterology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, Zhejiang Province, China.
    Aim: To gain knowledge of xanthelasma, a large population-based study was conducted.

    Methods: Patients who underwent upper gastrointestinal endoscopy at the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China during Jan 2009 to Nov 2016 were included. General characteristics as well as clinical data were collected, including blood routine, serum biochemical analysis, endoscopic findinds, histological evaluation and comorbiditie. Read More

    Prognostic significance of promoter DNA hypermethylation of the cysteine dioxygenase 1 (CDO1) gene in primary gallbladder cancer and gallbladder disease.
    PLoS One 2017 21;12(11):e0188178. Epub 2017 Nov 21.
    Department of Surgery, Kitasato University Hospital, Minami-ku, Sagamihara, Kanagawa, Japan.
    Background: Aberrant promoter DNA methylation of the cysteine dioxygenase 1 (CDO1) gene is found in various human cancers and is associated with clinical outcome. In this study, we assessed for the first time the clinicopathological significance of CDO1 methylation in primary gallbladder cancer (GBC) in comparison with non-malignant gallbladder disease.

    Methods: CDO1 DNA methylation was quantified using quantitative TaqMan methylation specific PCR (Q-MSP) in 99 primary GBC patients together with the 78 corresponding non-tumor tissues and 26 benign gallbladder disease (including 7 patients with xanthogranulomatous cholecystitis) who underwent surgical resection between 1986 and 2014. Read More

    Role of Cytology in Early Diagnosis of Cerebrotendinous Xanthomas.
    J Cytol 2017 Oct-Dec;34(4):227-229
    Department of Pathology, Burdwan Medical College, Burdwan, West Bengal, India.
    Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestenol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects, and premature death from arteriosclerosis. Because it is a treatable cause of cerebellar ataxia and dementia, its early diagnosis is desirable. Here, we have reported the case of an 11-year-old boy with this disorder who was diagnosed based on the cytological findings of fine needle aspiration and clinical features. Read More

    Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts.
    J AAPOS 2017 Dec 24;21(6):505-507. Epub 2017 Oct 24.
    Department of Ophthalmology, Casey Eye institute, Oregon Health and Science University, Portland. Electronic address:
    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by a broad spectrum of clinical manifestations, including bilateral juvenile cataracts. Untreated CTX leads to progressive permanent neurologic decline and early death. Although symptoms begin in early childhood, diagnosis and replacement therapy with chenodeoxycholic acid is often delayed until adulthood. Read More

    Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey.
    Acta Neurol Belg 2017 Oct 22. Epub 2017 Oct 22.
    Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, 34098, Istanbul, Turkey.
    Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. In spite of subtle clinical signs beginning from childhood, CTX is generally diagnosed lately. The aim of this study is to evaluate clinical, neuroradiological findings and therapy responses of pediatric CTX patients and raise awareness to early features of disease. Read More

    Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.
    Ann Hepatol 2017 November-December,;16(6):970-978
    Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN.
    Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols. Liver involvement is not a recognized manifestation of this disease, and cirrhosis has been reported only once in the medical literature. We describe a fatal case of a 21-year old South Asian male who presented with decompensated cirrhosis, and biochemical abnormalities consistent with sitosterolemia. Read More

    Effect of a high-cholesterol diet on lipoprotein metabolism and xanthoma formation in rabbits.
    J Cosmet Dermatol 2017 Oct 11. Epub 2017 Oct 11.
    Department of Plastic and Reconstructive Surgery, Changzheng Hospital, Second Military Medical University, Shanghai, China.
    Background: Xanthelasma is the most common type of cutaneous xanthoma and often occurs on the eyelids. Xanthoma has been reported to be highly correlated with abnormal lipoprotein metabolism.

    Aims: In this study, we wanted to investigate the effects of a high-cholesterol diet on xanthoma formation and lipoprotein metabolism in rabbits. Read More

    Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
    J Inherit Metab Dis 2017 Nov 4;40(6):771-781. Epub 2017 Oct 4.
    Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochrome P450 CYP27A1 gene that result in production of a defective sterol 27-hydroxylase enzyme. CTX is associated with abnormally high levels of cholestanol in the blood and accumulation of cholestanol and cholesterol in the brain, tendon xanthomas, and bile. Hallmark clinical manifestations of CTX include chronic diarrhea, bilateral cataracts, tendon xanthomas, and neurologic dysfunction. Read More

    Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
    J Pediatr Gastroenterol Nutr 2017 Nov;65(5):561-568
    *The Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China †Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH ‡Center for Pediatric Liver Diseases, Children's Hospital of Fudan University §Department of Pediatrics, Shanghai Medical College of Fudan University, Shanghai, China ||Institut für Pathologie, Medizinische Universität Graz, Graz, Austria.
    Objectives: Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway. CTX usually presents as neurologic disease in adults or older children. The rare reports of CTX manifest as neonatal cholestasis assess the cholestasis as transient, with patient survival. Read More

    Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
    J Inherit Metab Dis 2017 Sep 11. Epub 2017 Sep 11.
    Department of Neurology, Canisius Wilhelmina Hospital, PO Box 9015, 6500GS, Nijmegen, The Netherlands.
    Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset cataract are the earliest symptoms in childhood. Read More

    Xanthoma-like Skin Changes in an Elderly Woman with a Normal Lipid Profile.
    Acta Dermatovenerol Croat 2017 Jul;25(2):167-169
    Professor Joanna Maj, MD, PhD, Department and Clinic of Dermatology, Venereology and Allergology, Wroclaw Medical University, Chałubińskiego 1, PL-50-368 Wrocław, Poland;
    Dear Editor, An 83-year-old woman developed yellow-brownish infiltrates, nodules, and tumors mimicking xanthomas, mostly involving the periorbital and chest area within three months (Figure 1). She had no abnormalities in serum cholesterol or triglycerides levels. A detailed laboratory analysis revealed the presence of mild monoclonal gammopathy with a presence of immunoglobulin G (IgG) kappa light chains; however, according to hematologist consultation, it did not require medical intervention. Read More

    Rituximab Monotherapy Is Effective in Treating Orbital Necrobiotic Xanthogranuloma.
    Ophthal Plast Reconstr Surg 2018 Jan/Feb;34(1):e24-e27
    Orbital Oncology and Ophthalmic Plastic Surgery, Department of Plastic Surgery, Department of Lymphoma and Myeloma, Department of Pathology, and Department of Translational and Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, U.S.A.
    The authors report a case of a patient with bilateral orbital necrobiotic xanthogranuloma and no associated systemic paraproteinemia. Orbital biopsy showed strong expression of CD20-positive cells. The patient was treated with systemic rituximab monotherapy, with excellent clinical response and marked regression of the orbital lesions on imaging. Read More

    Surgical Treatment as a First Option of the Lower Eyelid Xanthelasma.
    J Craniofac Surg 2017 Oct;28(7):e678-e679
    Dental/Medical Center of Maxillofacial Surgery "Aleja-Centar," Banja Luka, Bosnia and Herzegovina.
    Xanthelasma palpebrarum represents yellowish plaques, which mostly appear near the inner cantus of the eyelid. In most patients, cosmetic reasons are the main purpose for their removal.The author presents a patient with a lower eyelid xanthelasma where surgical excision was used as a first treatment option. Read More

    Adult Orbital and Adnexal Xanthogranulomatous Disease.
    Asia Pac J Ophthalmol (Phila) 2017 Sep-Oct;6(5):435-443. Epub 2017 Aug 22.
    Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
    Purpose: Adult xanthogranulomatous disease of the orbit and ocular adnexa is a rare disease that can cause serious morbidity and mortality. Ophthalmologists are commonly the first clinicians to come in contact with affected patients and an understanding of the clinical features is essential.

    Design: We present a retrospective case series of patients seen in the oculoplastic unit of a large tertiary referral hospital over a 20-year period. Read More

    Achilles Tendon Xanthomas: Fat-Water Separation at Baseline and after Treatment.
    Radiology 2017 12 21;285(3):876-884. Epub 2017 Aug 21.
    From the Departments of Imaging & Interventional Radiology (J.F.G., D.K.W.Y., F.X., D.W.), Medicine & Therapeutics (M.H., B.T.), and Chemistry (P.G., S.L.L.), Prince of Wales Hospital, The Chinese University of Hong Kong, 30-32 Ngan Shing St, Shatin, NT, Hong Kong.
    Purpose To investigate the fat-water content of Achilles tendon xanthomas at baseline and after treatment and to compare this assessment with that of ultrasonography (US) and other magnetic resonance (MR) imaging-based parameters. Materials and Methods Forty-eight Achilles tendons with clinically apparent xanthomas in 24 patients with familial hypercholesterolemia (FH) (six men, 18 women; mean age ± standard deviation, 58 years ± 9) were compared with 20 Achilles tendons in 10 control subjects without FH (two men, eight women; mean age, 62 years ± 7). US imaging measurements (thickness, width, cross-sectional area, echogenicity) and 3. Read More

    Fibrohistiocytic Tumors.
    Clin Lab Med 2017 Sep 15;37(3):603-631. Epub 2017 Jun 15.
    Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Mayo Clinic, Hilton 11, 200 First Street Southwest, Rochester, MN 55905, USA. Electronic address:
    Fibrohistiocytic tumors are a diverse group of reactive and neoplastic lesions including xanthoma, fibrous histiocytoma and its variants, solitary xanthogranuloma, dermatofibrosarcoma protuberans, and atypical fibroxanthoma. This article reviews some of the more commonly encountered fibrohistiocytic tumors with an emphasis on clinical presentation, macroscopic and histologic characteristics, molecular/cytogenetic findings where applicable, and differential diagnoses. Read More

    Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.
    Eur J Dermatol 2017 Oct;27(5):519-523
    Department of Dermatology, American University of Beirut, Beirut, Lebanon, Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon, Department of Dermatology, Columbia University, New York, New York, USA.
    Sitosterol is the most abundant plant sterol found in our diet. Sitosterolemia (OMIM 210250), also known as phytosterolaemia, is a rare autosomal recessive disease caused by the inability to efficiently excrete plant sterol, and is characterized by cutaneous xanthomas and accelerated atherosclerosis. Sitosterolaemia is caused by homozygous or compound heterozygous mutations in either ABCG5 or ABCG8 (both on chromosome 2p21), which encode the sterol efflux transporter ABCG5 (sterolin-1) and ABCG8 (sterolin-2), respectively. Read More

    Treatment of xanthelasma palpebrarum with a 1064-nm, Q-switched Nd:YAG laser.
    J Am Acad Dermatol 2017 Oct 27;77(4):728-734. Epub 2017 Jun 27.
    National Skin Centre, Singapore.
    Background: Xanthelasma palpebrarum is the most common cutaneous xanthoma characterized by soft, yellow papules or plaques that arise on the periorbital skin. As these lesions can be cosmetically disfiguring, many patients seek medical help to remove these lesions.

    Objective: To determine the effectiveness and minimum number of treatment sessions with a 1064-nm, Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser for the treatment of xanthelasma. Read More

    Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.
    Metab Brain Dis 2017 Oct 17;32(5):1609-1618. Epub 2017 Jun 17.
    Department of Neurology & National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
    Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients. Read More

    Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.
    Am J Med Genet A 2017 Aug 7;173(8):2275-2279. Epub 2017 Jun 7.
    Department of Pediatrics,, Division of Genetics, University of California, San Francisco, California.
    Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn error of bile acid metabolism characterized by diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas developing in the second to third decades of life, and progressive neurologic dysfunction in adulthood. The condition is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid (CDCA) and elevated levels of cholestanol and bile alcohols. We present a 36-year-old male of Han ethnicity who developed xanthomas of his Achilles tendons and suffered neurocognitive declines and gait deterioration in his second decade. Read More

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