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    Dermoscopic features of periungual papules in Multicentic Reticulohistiocytosis Dermoscopy in Multicentic Reticulohistiocytosis.
    J Eur Acad Dermatol Venereol 2017 Apr 6. Epub 2017 Apr 6.
    Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Gdańsk, Poland.
    A 66-year-old woman was diagnosed with MRH based on clinical and histopathological findings. The disease had started 6 months before with arthralgia of the right shoulder joint and symmetric xanthelasma on the palpebrae. One month later symmetric, bilateral arthralgia affecting most of the proximal and distal intraphalangeal joints of both hands have occurred. Read More

    Bilateral extensive nodular xanthelasma palpebrarum: an infrequent case report.
    Int Ophthalmol 2017 Apr 3. Epub 2017 Apr 3.
    Department of Ophthalmology, West China Hospital of Sichuan University, No. 37, Guoxue Alley, Wuhou District, Chengdu, 610041, Sichuan Province, China.
    Purpose: To report a rare case of extensive bilateral xanthelasma palpebrarum (XP). A 70-year-old man presented with nodular lesions of his eyelids for 12 years. The skin changes began with his left lower eyelid and progressively spread to both lateral-inferior and infero-medial periorbital areas. Read More

    Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
    Hum Genet 2017 Mar 23. Epub 2017 Mar 23.
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
    Several single-gene disorders with clinical and radiological characteristics similar to those observed in multiple sclerosis (MS) patients have been described. To evaluate whether this phenotypic overlap can be ascribed to a common genetic etiology, 28 genes known to present pathogenic mutations for 24 of these disorders were sequenced in 270 MS patients. All identified variants were genotyped in 2131 MS cases and 830 healthy controls, and those exclusively observed in patients were assessed for segregation within families. Read More

    The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.
    J Neurol 2017 Mar 21. Epub 2017 Mar 21.
    Unit of Diagnostic and Therapeutic Neuroradiology, Azienda Ospedaliera Siena, Siena, Italy.
    Cerebrotendinous xanthomatosis (CTX) is a metabolic disease characterized by systemic signs and neurological impairment, which can be prevented if chenodeoxycholic acid (CDCA) treatment is started early. Despite brain MRI represents an essential diagnostic tool, the spectrum of findings is worth to be reappraised, and follow-up data are needed. We performed clinical evaluation and brain MRI in 38 CTX patients. Read More

    A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.
    J Lipid Res 2017 Mar 17. Epub 2017 Mar 17.
    Erasmus Medical Center, Netherlands.
    Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis where symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excellent candidate for newborn screening. We developed a new dried blood spot screening assay for this disorder based on different ratios between the accumulating cholestanetetrol glucuronide (tetrol) and specific bile acids/bile acid intermediates, without the need for derivatization. A quarter-inch dried blood spot punch was extracted with methanol, internal standards were added and after concentration the extract was injected into the tandem mass spectrometer using a 2 minute flow injection analysis where specific transitions were measured for cholestanetetrol glucuronide, tauro-chenodeoxycholic acid (t-CDCA) and tauro-trihydroxycholestanoic acid (t-THCA). Read More

    Bilateral Achilles Tendon Xanthomas in a Patient with Cerebrotendinous XanthomatosisA Case Report.
    J Am Podiatr Med Assoc 2017 Jan;107(1):85-89
    Cerebrotendinous xanthomatosis is a rare, autosomal recessive, lipid storage disease with accumulation of cholestanol in most tissues, particularly in the Achilles tendons. We described a 23-year-old female patient who had progressive painfull swelling of both Achilles tendons due to cerebrotendinous xanthomatosis. We performed surgery on both-side Achilles tendon tumors. Read More

    [Clinical features of «metabolism» diseases of the skin in patients with chronic diffuse liver diseases].
    Ter Arkh 2017 ;89(1):49-53
    Novosibirsk State Medical University, Ministry of Health of Russia, Novosibirsk, Russia.
    Aim: To determine the clinical features of skin diseases developing in the presence of metabolic disturbances in patients with chronic diffuse liver diseases.

    Subjects And Methods: A total of 368 patients with different clinical forms of hepatopathy were comprehensively examined.

    Results: 817 cases of seborrhea, skin itch, xerodermia, xanthomatosis, and dyschromia were detected in 318 (86. Read More

    Review of xanthomatous lesions of the sella.
    Brain Pathol 2017 May;27(3):377-395
    Department of Neurosurgery, University of Colorado Anschutz Medical Campus, Aurora, CO.
    Xanthomatous lesions of the sellar region have traditionally been divided into two separate categories, xanthomatous hypophysitis (XH) and xanthogranuloma (XG) of the sellar region. The seminal article on XH, a condition typified by foamy histiocytes and lymphoplasmacytic infiltrates in the pituitary gland/sellar region, but usually little or no hemosiderin pigment, detailed three patients. However, most reports since that time have been single cases, making understanding of the entity difficult. Read More

    A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
    Metab Brain Dis 2017 Apr 22;32(2):311-315. Epub 2017 Feb 22.
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir street, Dokki, Giza, Cairo, 12311, Egypt.
    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Read More

    Case 239: Cerebrotendinous Xanthomatosis.
    Radiology 2017 Mar;282(3):916-921
    From the Department of Radiology, Leicester Royal Infirmary, Infirmary Square, Leicester LE1 5WW, England.
    History A 63-year-old man with learning difficulties presented to the Accident and Emergency Department with right ankle pain after an inversion injury and underwent plain radiography. The patient had developed normally until his teenage years, at which point he experienced cognitive regression. He experienced swallowing difficulties, tinnitus, and fecal incontinence, and he had undergone cataract surgery at the age of 20 years. Read More

    Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.
    J Biol Chem 2017 Mar 11;292(12):4913-4924. Epub 2017 Feb 11.
    From the Departments of Ophthalmology and Visual Sciences and
    Cytochrome P450 27A1 (CYP27A1 or sterol 27-hydroxylase) is a ubiquitous, multifunctional enzyme catalyzing regio- and stereospecific 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 and Visual Application Lab (EVA Lab) - Neurology and Neurometabolic Unit, Department of Medical and Surgical Sciences and Neurosciences, University of Siena, Italy.
    Key Points: A cerebellar dentate nuclei (DN) contribution to volitional oculomotor control has recently been hypothesized but not fully understood. Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disease typically characterized by DN damage. In this study, we compared the ocular movement characteristics of two sets of CTX patients, with and without brain MRI evidence of DN involvement, with a set of healthy subjects. 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

    Xanthomatous Hypophysitis Is Associated with Ruptured Rathke's Cleft Cyst.
    Endocr Pathol 2017 Mar;28(1):83-90
    Department of Pathology, University Health Network, 200 Elizabeth Street, 11th floor, Toronto, ON, M5G 2C4, Canada.
    Xanthomatous hypophysitis is a rare inflammatory disease of the pituitary gland that can mimic a neoplastic lesion clinically and radiologically. Its pathogenesis remains largely unknown, although recent evidence suggests that pituitary inflammation may occur as a secondary reaction to mucous content released from a ruptured cyst. In a series of 1221 pituitary specimens, we identified seven cases of xanthomatous hypophysitis. Read More

    Spectrum of Xanthogranulomatous Processes in the Abdomen and Pelvis: A Pictorial Review of Infectious, Inflammatory, and Proliferative Responses.
    AJR Am J Roentgenol 2017 Mar 17;208(3):475-484. Epub 2017 Jan 17.
    3 Department of Diagnostic Radiology, The University of Texas M. D. Anderson Cancer Center, 1400 Pressler St, Houston, TX 77030.
    Objective: Xanthogranulomatous (XG) processes are rare inflammatory conditions with the characteristic pathologic feature of lipid-laden macrophages or histiocyte cells. Imaging findings are nonspecific and can simulate aggressive neoplastic processes. XG processes can be caused by infection, inflammation, histolytic process, or an inherited lysosomal disorder. 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 2017 Feb;102(2):350-353
    Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida 33136; and.
    Context: Alagille syndrome is a rare autosomal-dominant genetic disorder caused by defects in the Notch signaling pathway, which 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 had developed failure to thrive, jaundice, intermittent pruritus, and multiple diffuse symmetrical skin xanthomas at 1 year of age. 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 2017 Mar 25;38(3):481-483. 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 Apr 2;19(2):100-105. Epub 2017 Feb 2.
    a Department of Dermatology, School of Medicine , Istanbul Medipol University , 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 2017 May;39(5):384-387
    *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

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