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    Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.
    J Biol Chem 2017 Feb 11. Epub 2017 Feb 11.
    Case Western Reserve University, United States;
    Cytochrome P450 27A1 (CYP27A1 or sterol 27-hydroxylase) is a ubiquitous, multifunctional enzyme catalyzing regio- and stereo-specific hydroxylation of different sterols. In humans, complete CYP27A1 deficiency leads to cerebrotendinous xanthomatosis or nodule formation in tendons and brain (preferentially in the cerebellum) rich in cholesterol and cholestanol, the 5α-saturated analog of cholesterol. In Cyp27a1(-/-) mice, xanthomas are not formed, despite a significant cholestanol increase in the brain and cerebellum. Read More

    Systematic review of laser therapy in xanthelasma palpebrarum.
    Int J Dermatol 2017 Mar;56(3):e47-e55
    Division of Dermatology, Creighton University School of Medicine, Omaha, NE, USA.
    Xanthelasma palpebrarum is a benign periorbital xanthoma with substantial cosmetic and psychosocial burden for patients. Treatment modalities should be considered based on efficacy as well as cosmetic outcome. Laser modalities in the treatment of xanthelasma palpebrarum have not been comprehensively reviewed and discussed. Read More

    The role of dentate nuclei in human oculomotor control: insights from Cerebrotendinous xanthomatosis.
    J Physiol 2017 Feb 7. Epub 2017 Feb 7.
    Eye tracking & Visual Application Lab (EVA Lab) - Neurology and Neurometabolic Unit, Department of Medical and Surgical Sciences and Neurosciences, University of Siena, Italy.
    It is well known that the medial cerebellum controls saccadic speed and accuracy. In contrast, the role of the lateral cerebellum (cerebellar hemispheres and dentate nuclei, DN) is less understood. Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder due to mutations in CYP27A1, typically characterized by DN damage. Read More

    Comparative Study to Evaluate the Efficacy of Radiofrequency Ablation versus Trichloroacetic Acid in the Treatment of Xanthelasma Palpebrarum.
    J Cutan Aesthet Surg 2016 Oct-Dec;9(4):236-240
    Department of Dermatology, M. S. Ramaiah Medical College, Bengaluru, Karnataka, India.
    Background: Xanthelasma palpebrarum (XP) is a metabolic disorder involving the eyelids. Radiofrequency(RF) surgery and trichloroacetic acid (TCA) applications have been listed among the procedures for XP, but comparative studies are not available.

    Aim: To compare the efficacy of radiofrequency surgery versus trichloroacetic acid application in the treatment of XP. Read More

    [Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment].
    Vnitr Lek 2016 ;62(11):887-894
    Hyperlipoproteinemia (HLP) and dyslipidemia (DLP) are of course mainly perceived as diseases of common incidence and are typically seen as the greatest risk factors (RF) in the context of the pandemic of cardiovascular diseases. This is certainly true and HLP or DLP overall affect tens of percents of adults. However we cannot overlook the fact that disorders (mostly congenital) of lipid metabolism exist which, though not formally defined as such, amply satisfy the conditions for classification as rare diseases. Read More

    Pediatric Erdheim-Chester disease with aggressive skin manifestations.
    Br J Dermatol 2017 Jan 12. Epub 2017 Jan 12.
    Department of Dermatology, Tianjin Medical University General Hospital, Tianjin, China.
    Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell histiocytosis, is uncommon and characterized by the accumulation of CD68+/CD1a- foamy histiocytes. It is extremely rare in children. The skin lesions of pediatric ECD was not systemically described before. Read More

    Verruciform xanthoma in the hard palate: a case report and literature review.
    J Korean Assoc Oral Maxillofac Surg 2016 Dec 27;42(6):383-387. Epub 2016 Dec 27.
    Department of Surgery, Stomatology, Pathology and Radiology, Bauru School of Dentistry, University of São Paulo, Bauru, Brazil.
    Oral verruciform xanthoma (OVX) is an uncommon lesion that appears on the oral mucosa. The aim of this paper was to discuss the probable etiopathogenesis of OVX in the hard palate, reinforcing the importance of including this lesion in the differential diagnosis of verrucous lesions. A 43-year-old male smoker presented with a painless lesion with a verrucous surface and erythematous spots on the hard palate. Read More

    New JAG1 mutation causing Alagille Syndrome presenting with severe hypercholesterolemia: Case report with emphasis on genetics and lipid abnormalities.
    J Clin Endocrinol Metab 2016 Dec 14:jc20163171. Epub 2016 Dec 14.
    1 Division of Endocrinology, Metabolism and Diabetes. Department of Medicine University of Miami Miller School of Medicine. Miami, Fl 33136.
    Context: Alagille syndrome is a rare autosomal dominant genetic disorder caused by defects in the Notch signaling pathway that involves multiple organ systems. Bile duct paucity is the main characteristic feature of the disease, which often leads to cholestatic hypercholesterolemia.

    Case Description: We report the case of a male infant who at one year of age had developed failure to thrive, jaundice, intermittent pruritus and multiple diffuse symmetrical skin xanthomas. Read More

    Late-Onset Complication of Fillers: Paraffinoma of the Lower Eyelids Clinically Mimicking Xanthelasma.
    Ann Dermatol 2016 Dec 23;28(6):753-756. Epub 2016 Nov 23.
    Department of Dermatology, SMG-SNU Boramae Medical Center, Seoul, Korea.
    Injectable poly-L-lactic acid (PLLA) is world-famous filler used in lipoatrophy and facial rejuvenation because of its collagen neogenesis effect which leads to gradual volume restoration. Until recently, quite a number of unwanted adverse events of PLLA have been reported. However, to the best of our knowledge, paraffinoma as a complication of PLLA has never been reported. Read More

    Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.
    Neurol Sci 2016 Nov 25. Epub 2016 Nov 25.
    Department of Neurology, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary.
    Cerebrotendinous xanthomatosis (CTX) is a rare, genetically determined error of metabolism. The characteristic clinical symptoms are diarrhea, juvenile cataracts, tendon xanthomas and neuropsychiatric alterations. The aim of this study is to present a pair of identical adult twins with considerable differences in the severity of phenotype. Read More

    Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation.
    Stem Cell Res 2016 Sep 17;17(2):433-436. Epub 2016 Sep 17.
    Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
    Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183C>A]; p. R395S in CYP27A1. Read More

    Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.
    JIMD Rep 2016 Nov 18. Epub 2016 Nov 18.
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
    Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Read More

    Erbium:yttrium aluminum garnet laser versus Q-switched neodymium:yttrium aluminum garnet laser for the treatment of xanthelasma palpebrarum.
    J Cosmet Laser Ther 2017 Feb 2:1-6. Epub 2017 Feb 2.
    a Istanbul Medipol University, School of Medicine , Department of Dermatology , Istanbul , Turkey.
    Background: Several lasers have been used for the treatment of xanthelasma palpebrarum (XP), such as Q-switched neodymium:yttrium aluminum garnet (QSNd:YAG) and erbium:yttrium aluminum garnet (Er:YAG) laser. Up to now, a comparative study among these laser options in the treatment of XP has not been reported.

    Objective: The aim of this study was to compare the clinical efficacy and response rates of QSNd:YAG and Er:YAG in the treatment of XP. Read More

    Pathophysiology of cerebrotendinous xanthomatosis.
    Rinsho Shinkeigaku 2016 Dec 12;56(12):821-826. Epub 2016 Nov 12.
    Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine.
    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected lesions. To date, more than 50 different CYP27A1 mutations, including missense mutations, frameshifts, and splice site mutations, have been reported worldwide in patients with CTX. Clinical presentation is characterized by neonatal jaundice or cholestasis, refractory diarrhea, juvenile cataracts, tendon xanthomas, osteoporosis, coronary heart disease, and progressive neuropsychiatric disturbances; however, combinations of symptoms vary from patient to patient. Read More

    [Cutaneous manifestations of metabolic syndrome].
    Hautarzt 2016 Dec;67(12):982-988
    SMZ Ost, Abteilung für Dermatologie, Donauspital, Langobardenstr. 122, 1220, Wien, Österreich.
    Background: Metabolic syndrome (MetS) is a cluster of risk factors which increase the risk of developing cardiovascular diseases and type II diabetes mellitus. High blood pressure, hyperglycemia, dyslipidemia, and central obesity are the main risk factors. While MetS is not a dermatological diagnosis per se, several cutaneous manifestations can serve as a clinical indicator for impending MetS and facilitate an early diagnosis and therapy in order to prevent its long-term sequelae. Read More

    A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1.
    Rinsho Shinkeigaku 2016 Oct 28;56(10):667-671. Epub 2016 Oct 28.
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University.
    A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage. Read More

    Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.
    Indian Pediatr 2016 Oct;53(10):917-919
    Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India. Correspondence to: Dr Shilpa Kulkarni, EEG room, 2nd floor, Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai 400 012, Maharashtra, India.
    Background: Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy.

    Case Characteristics: 10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy. Read More

    Xanthomatized Neutrophilic Dermatosis in a Patient With Myelodysplastic Syndrome.
    Am J Dermatopathol 2016 Oct 18. Epub 2016 Oct 18.
    *Division of Dermatology, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Gahanna, OH; and †Department of Pathology, University of Virgina, Charlottesville, VA.
    We present an original case report of a 58-year-old man with a history of histiocytoid Sweet and myelodysplastic syndrome who presented with a new onset of tender plaques on his oral commissures. A biopsy revealed a dense dermal neutrophilic infiltrate, leukocytoclasis without frank vasculitis, and, most notably, the presence of many xanthomatized cells. Clinical presentation and histologic features were most consistent with an acute neutrophilic dermatosis, which we believe to be a xanthomized variant of Sweet syndrome. Read More

    Periorbital Hyperpigmentation in Patients with Xanthelasma Palpebrarum: An Interesting Observation.
    J Clin Aesthet Dermatol 2016 Apr 1;9(4):52-54. Epub 2016 Apr 1.
    Department of Dermatology and Venereology, Andreas Sygros Skin Hospital, Athens, Greece.
    Background: Xanthelasma palpebrarum refers to xanthomas that occur more often near the inner canthus of the eyelid. Periorbital hyperpigmentation presents as a dark area surrounding the eyelids. Objective: In the present study, the authors examined the prevalence and the associated factors of periorbital hyperpigmentation among patients with xanthelasma. Read More

    Non-gastric Gastrointestinal Xanthomas: Case Series and Literature Review.
    J Gastrointestin Liver Dis 2016 Sep;25(3):389-94
    Department of Gastroenterology, Hospital Clínico San Carlos, Madrid, Spain.
    Gastrointestinal xanthomas are infrequent non-neoplastic lesions characterized by the accumulation of foam cells in the lamina propria. They are commonly seen in association with dyslipidemia, chemotherapy or radiotherapy, and infections in immunosuppressed patients. However, no clear connection to hyperlipidemia has been found. Read More

    Tendon xanthomas: Not always familial hypercholesterolemia.
    J Clin Lipidol 2016 Sep-Oct;10(5):1262-5. Epub 2016 May 14.
    Department of Vascular Medicine, University Medical Center Utrecht, The Netherlands. Electronic address:
    Tendon xanthoma are most commonly associated with Familial Hypercholesterolemia, but the differential diagnosis includes sitosterolemia and cerebrotendinous xanthomatosis (CTX). The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX. CTX is a rare, recessive disorder caused by mutations in the CYP27A1 gene. Read More

    Rapid resolution of xanthelasmas after treatment with alirocumab.
    J Clin Lipidol 2016 Sep-Oct;10(5):1259-61. Epub 2016 Aug 2.
    Lipid Unit, Hospital Universitario Miguel Servet, IIS Aragon, Zaragoza, Spain.
    Xanthelasmas are superficial fat deposits around the eyelids commonly present in different hyperlipidemias and associated with increased cardiovascular risk. Statins or other lipid-lowering treatments do not usually modify them. We present the case of a middle-age man with severe high levels of LDL cholesterol from youth due to a genetically defined heterozygous familiar hypercholesterolemia (HeFH). Read More

    An unusual presentation of eruptive xanthoma: A case report and literature review.
    Medicine (Baltimore) 2016 Sep;95(37):e4866
    aDivision of Pulmonary and Critical Care Medicine bDepartment of Medicine, Bronx Lebanon Hospital Center, Affiliated with Icahn School of Medicine at Mount Sinai, NY, USA.
    Background: Eruptive xanthomas are benign skin lesions caused by localized deposition of lipids in the dermis. The lesions are generally caused by elevated levels of serum triglycerides that leak through the capillaries and are phagocytosed by macrophages in the dermis. Clinical manifestation varies from asymptomatic skin lesions to intense pruritus and tenderness. Read More

    Serum lipid profile and clinical characteristics of patients with xanthelasma palpebrarum.
    An Bras Dermatol 2016 Jul-Aug;91(4):468-71
    Kermanshah University of Medical Sciences - Kermanshah, Iran.
    Background: Although many factors are involved in the etiology of xanthelasma palpebrum, lipid disorder is strongly associated with its induction. Xanthelasma palpebrum, the most common type of xanthoma, usually presents in middle-aged females and results in aesthetic problems.

    Objective: To evaluate thelipid profile and important clinical aspects of xanthelasma palpebrum patients. Read More

    An unusual cause of Achilles tendon xanthoma.
    J Clin Lipidol 2016 Jul-Aug;10(4):1040-4. Epub 2016 May 13.
    Department of Medical Biochemistry, Research Institute of McGill University Health Center (RI-MUHC), Centre for Translational Biology, Montreal, Quebec, Canada; Department of Experimental Medicine, McGill University, Montreal, Quebec, Canada; Hyperlipidemia and Atherosclerosis Research Group, Clinical Research Institute of Montreal (IRCM), Montreal, Quebec, Canada. Electronic address:
    Tendinous xanthomas are often thought to be pathognomonic for familial hypercholesterolemia. In this report, we present the case of a young man with a normal lipid profile and Achilles tendon xanthoma. Biochemical and genetic studies confirmed the diagnosis of cerebrotendinous xanthomatosis in this patient. Read More

    Tendons Involvement in Congenital Metabolic Disorders.
    Adv Exp Med Biol 2016 ;920:117-22
    Regenerative Medicine Laboratory, BioCruces Health Research Institute, Cruces University Hospital, 48903, Barakaldo, Spain.
    Congenital metabolic disorders are consequence of defects involving single genes that code for enzymes. Blocking metabolic pathways, the defect leads to the shortage of essential compounds, and/or to the accumulation of huge quantities of precursors, which interfere with normal functions. Only few of these diseases are characterized by a clinically significant tendon involvement. Read More

    Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
    Neurologia 2016 Jul 23. Epub 2016 Jul 23.
    Servicio de Neurología, Complexo Hospitalario Universitario, Santiago de Compostela, España. Electronic address:
    Introduction: Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. These diseases are accompanied by a wide range of systemic manifestations (cardiopathies, endocrinopathies, skeletal deformities, and skin abnormalities).

    Development: This study reviews current knowledge of the most common forms of autosomal recessive spinocerebellar ataxia in order to provide tips that may facilitate diagnosis. Read More

    [Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Aug;33(4):476-80
    Graduate School, Anhui University of Chinese Medicine, Hefei, Anhui 230038, China; Institute of Neurology, Anhui University of Chinese Medicine, Hefei, Anhui 230061, China. Email:
    Objective: To analyze a case of cerebrotendinous xanthomatosis (CTX) with mental retardation as the initial neurological symptom.

    Methods: Medical imaging, histopathological assay and genetic testing were carried out to analyze the patient.

    Results: Neurological manifestations of the 27-year-old male patient were initiated by mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language. Read More

    Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.
    Mol Genet Metab Rep 2016 Jun 12;7:11-5. Epub 2016 Mar 12.
    BioAnalytical Shared Resource Facility, Department of Physiology & Pharmacology, Oregon Health & Science University (OHSU), Portland, OR, United States.
    Background: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder of bile acid synthesis that can cause progressive neurological damage and premature death. Detection of CTX in the newborn period would be beneficial since an effective treatment is available. We previously described a liquid chromatography-electrospray ionization-tandem mass spectrometry (LC-ESI-MS/MS) test with potential to screen newborn dried bloodspots (DBS) for CTX. Read More

    Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review.
    Orbit 2016 Aug 20;35(4):221-6. Epub 2016 Jun 20.
    a Ruiz Department of Ophthalmology and Visual Science , The University of Texas Health Science Center at Houston , Houston , Texas , USA.
    Erdheim-Chester disease (ECD) is a rare xanthogranulomatous disease in which orbital involvement can have devastating outcomes. Through a case report and review of the ophthalmic literature, we explore orbital findings, disease progression, and treatment options. Cases of orbital involvement in Erdheim-Chester disease were identified in the ophthalmic literature with a PubMed query and review of cited references. Read More

    Accuracy of clinical diagnosis of benign eyelid lesions: Is a dedicated nurse-led service safe and effective?
    Orbit 2016 Aug 20;35(4):193-8. Epub 2016 Jun 20.
    a Department of Ophthalmology , University Hospitals Coventry and Warwickshire NHS Trust , Coventry , United Kingdom.
    This article compares an independent nurse-led benign lesion service with a doctor-led one, and assesses the impact of clinician seniority on diagnostic accuracy rates. Retrospective review of benign lesions referred to a teaching hospital and managed in either a doctor- or nurse-led lid service. All lesions were diagnosed clinically, excised and then sent for histological diagnosis. Read More

    Xanthelasma Palpebrarum with Arcus Cornea: A Clinical and Biochemical Study.
    Indian J Dermatol 2016 May-Jun;61(3):295-300
    Department of Dermatology, Opthalmology and Community Medicine, Pramukhswami Medical College, Karamsad, Gujarat, India.
    Background: Xanthelasma palpebrarum (XP) is characterized by sharply demarcated yellowish flat plaques on upper and lower eyelids. It is commonly seen in women with a peak incidence at 30-50 years. It is also considered as the cutaneous marker of underlying atherosclerosis along with the disturbed lipid metabolism. Read More

    False-Positive Finding on 18F FDG PET/CT: Report of a Rare Case With Xanthogranulomatous Inflammation in the Spinal Epidural Space.
    Clin Nucl Med 2016 Sep;41(9):722-3
    From the NanFang PET Center, Nanfang Hospital, Southern Medical University, Guangzhou, People's Republic of China.
    Xanthogranulomatous inflammation in the spinal epidural space is extremely rare. We report a case of a 62-year-old man with a xanthogranulomatous inflammation in the spinal epidural space mistaken for lymphoma because of its avid F FDG uptake on PET/CT. This case emphasizes the need for caution when evaluating a spinal epidural mass using F FDG PET/CT as xanthogranulomatous inflammation can induce a false-positive reading on F-FDG PET/CT. Read More

    Is Gastric Xanthelasma an Alarming Endoscopic Marker for Advanced Atrophic Gastritis and Intestinal Metaplasia?
    Dig Dis Sci 2016 Oct 1;61(10):2949-55. Epub 2016 Jun 1.
    Department of Gastroenterology, School of Medicine, Sakarya University, Sakarya, Turkey.
    Background/aim: The clinical significance of gastric xanthelasmas is unknown. We conducted a case-control study in order to evaluate whether gastric xanthelasma is an indicator of advanced atrophic gastritis and intestinal metaplasia.

    Material And Method: The study was conducted among 1400 patients who underwent elective upper endoscopy. Read More

    Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.
    Clin Med Res 2016 Jun 26;14(2):103-8. Epub 2016 May 26.
    Department of Pediatrics and Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA Marshfield Clinic Research Foundation, Marshfield, USA.
    A young girl, age 8.5 years, presented with profound hypercholesterolemia and early xanthomatosis, suggesting homozygous familial (or type II) hypercholesterolemia. The patient's low density lipoprotein (LDL) receptor function and parental lipoprotein profiles were determined to be normal, prompting revision of the initial diagnosis to pseudohomozygous familial hypercholesterolemia. Read More

    Continuous Wave Potassium Titanyl Phosphate Laser Treatment is Safe and Effective for Xanthelasma Palpebrarum.
    Dermatol Surg 2016 Jul;42(7):860-6
    *All the authors are affiliated with the Department of Dermatology, Máxima Medical Center, Veldhoven, the Netherlands.
    Background: Although not an accepted standard treatment, the 532-nm continuous wave potassium titanyl phosphate (CW-KTP) laser might be a powerful device to treat xanthelasma palpebrarum (XP).

    Objective: To determine the safety and efficacy of CW-KTP laser treatment for XP.

    Materials And Methods: Between January 2013 and January 2015, 30 consecutive patients with XP were treated with a 532-nm CW-KTP laser (spot size: 0. Read More

    Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.
    Metab Brain Dis 2016 Oct 26;31(5):1185-8. Epub 2016 May 26.
    Dipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Foggia, Viale L. Pinto 1, 71122, Foggia, Italy.
    Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive inborn error of bile acids synthesis and lipid accumulation caused by a deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1. Pathogenic variants in CYP27A1 cause elevated cholestanol levels in the body, which leads to a variable clinical presentation that often includes cataracts, intellectual disability, neurological features, tendon xanthomas, and chronic diarrhea. Herein we describe the cases of two unrelated adult CTX patients. Read More

    Xanthelasma-Like Reaction to Filler Injection.
    Ophthal Plast Reconstr Surg 2016 May 23. Epub 2016 May 23.
    *Assaf Harofeh Medical Center, Tzrifin, Israel; †Chelsea Eye and Cosmetic Surgery, New York, New York, ‡University of Southern California, Los Angeles, California, U.S.A.; and §Oculoplastica Bernardini, Milan, Italy.
    Purpose: The purpose of this study is to describe a new complication of a xanthelasma-like reaction which appeared after dermal filler injection in the lower eyelid region.

    Methods: A retrospective case analysis was performed on 7 patients presenting with xanthelasma-like reaction after filler injection to the lower eyelids.

    Results: Seven female subjects with no history of xanthelasma presented with xanthelasma-like reaction in the lower eyelids post filler injection. Read More

    Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature.
    J Clin Orthop Trauma 2016 Apr-Jun;7(2):122-6. Epub 2016 Mar 4.
    Associate Professor, Department of Orthopaedics, BRD Medical College, Gorakhpur, India.
    Introduction: Cerebrotendinous xanthomatosis is a rare lipid storage disease characterized by infantile onset diarrhea, cataract, tendon xanthomas, and progressive neurologic dysfunction. Cerebrotendinous xanthomatosis is exceptionally rare in Indian population with only few case reports till now.

    Case Report: An 18-year-old male presented to orthopedic outpatients clinic with complaints of insidious onset swelling of both achilles over last 3 years, with history of learning and visual difficulties. Read More

    Adult-Onset Asthma and Periocular Xanthogranulomas Associated with Systemic IgG4-Related Disease.
    Am J Ophthalmol Case Rep 2016 Apr;1:34-37
    Department of Ophthalmology, The University of Wisconsin, Madison, WI; McPherson Eye Research Institute, Madison, WI.
    Purpose: The aim of this study was to report a case of Adult-Onset Asthma with Periocular Xanthogranulomas (AAPOX) associated with systemic IgG4-related disease (IgG4-RD).

    Observations: A 57-year-old man presented with bilateral periorbital swelling for 1 year. Histopathology of a left orbital biopsy showed fibro vascular connective tissue inundated with foamy, lipid-laden histiocytes and touton giant cells with lymphocytic inflammation. Read More

    Similar oxysterols may lead to opposite effects on synaptic transmission: Olesoxime versus 5α-cholestan-3-one at the frog neuromuscular junction.
    Biochim Biophys Acta 2016 Jul 18;1861(7):606-16. Epub 2016 Apr 18.
    Department of Normal Physiology, Kazan State Medical University, Kazan 420012, Russia. Electronic address:
    Cholesterol oxidation products frequently have a high biological activity. In the present study, we have used microelectrode recording of end plate currents and FM-based optical detection of synaptic vesicle exo-endocytosis to investigate the effects of two structurally similar oxysterols, olesoxime (cholest-4-en-3-one, oxime) and 5ɑ-cholestan-3-one (5ɑCh3), on neurotransmission at the frog neuromuscular junction. Olesoxime is an exogenous, potentially neuroprotective, substance and 5ɑCh3 is an intermediate product in cholesterol metabolism, which is elevated in the case of cerebrotendinous xanthomatosis. Read More

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