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    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

    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

    [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

    Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.
    J Atheroscler Thromb 2018 Jun 7. Epub 2018 Jun 7.
    Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine.
    Statement1. Familial hypercholesterolemia (FH) is an autosomal hereditary disease with the 3 major clinical features of hyper-LDL-cholesterolemia, premature coronary artery disease and tendon and skin xanthomas. As there is a considerably high risk of coronary artery disease, in addition to early diagnosis and intensive treatment, family screening (cascade screening) is required (Recommendation level A)2. Read More

    Case report-Rapid regression of xanthomas under lipoprotein apheresis in a boy with homozygous familial hypercholesterolemia.
    J Clin Lipidol 2018 Jun 1. Epub 2018 Jun 1.
    Klinik und Poliklinik für Kardiologie, Universitätsklinikum Leipzig, Leipzig, Germany.
    Xanthomas are visibly deforming cholesterol deposits that develop after long-term exposure to high serum low-density lipoprotein cholesterol concentrations. We present the case of a 10-year-old boy suffering from homozygous familial hypercholesterolemia with generalized atherosclerosis and large xanthomas. The case impressively demonstrates the potential of low-density lipoprotein cholesterol lowering to rapidly regress pathologic cutaneous manifestations of hypercholesterolemia. Read More

    Association of Achilles tendon thickness and LDL-cholesterol levels in patients with hypercholesterolemia.
    Lipids Health Dis 2018 Jun 1;17(1):131. Epub 2018 Jun 1.
    Division of Cardiology, Keenan Research Center for Biomedical Science at the Li Ka Shing Knowledge Institute, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.
    Background: Achilles tendons are the most common sites of tendon xanthomas that are commonly caused by disturbance of lipid metabolism. Achilles tendon thickening is the early characteristic of Achilles tendon xanthomas. The relationship between Achilles tendon thickness (ATT) and LDL-C levels, and risk factors of ATT in patients with hypercholesterolemia, have thus far been poorly documented. Read More

    [Eruptive Xanthomas: A Cardinal Manifestation of Serious Metabolic Disease].
    Acta Med Port 2018 Apr 30;31(4):219-222. Epub 2018 Apr 30.
    Serviço de Dermatologia. Centro Hospitalar e Universitário de Coimbra. Coimbra, Portugal.
    Eruptive cutaneous xanthomas develop as a result of rapid intracellular and dermal deposition of lipids and are a cardinal sign of high cardiovascular risk. We describe the case of a 47-year-old male with multiple dome-shaped, yellowish and firm, slightly pruriginous papules distributed over the buttocks, lumbar region, abdominal wall, elbows and neck, for about two months. Previous medical history included alcohol abuse, non-medicated type 2 diabetes mellitus, dyslipidemia and recent onset of therapy with olanzapine for depressive syndrome. Read More

    Oral Verruciform Xanthoma within Lichen Planus: A Case Report and Literature Review.
    Case Rep Dent 2018 22;2018:1615086. Epub 2018 Apr 22.
    Department of Oral Medicine and Pathology, School of Dentistry, National and Kapodistrian University of Athens, Athens, Greece.
    Background: Verruciform xanthoma is an uncommon benign tumor, which exhibits a wide range of clinical patterns. The occurrence of the lesion in patients with immune-mediated mucocutaneous diseases may suggest a role of localized epithelial cell damage and chronic inflammation in its pathogenesis.

    Case Report: A case of verruciform xanthoma on the tongue of a 56-year-old female with oral lichen planus is reported. Read More

    [Frontal tuberous xanthomas with xanthelasma: one case report].
    • Authors:
    Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Apr;32(8):627-628
    The male patient of 51 years old was admitted due to find forehead tumor for 8 years. Auxiliary examination: platelet 80×10⁸/L, heterosexual platelet morphology examination showed microscopic see platelet scattered more easily to large and giant platelet-based, part of the platelet particles to reduce. High-density lipoprotein:0. Read More

    Familial hypercholesterolemia with extensive coronary artery disease and tuberous and tendinous xanthomas: A case report and mutation analysis.
    J Clin Lipidol 2018 Apr 26. Epub 2018 Apr 26.
    Medeniyet University Medical Center, Department of Cardiology, İstanbul, Turkey. Electronic address:
    This is a case report of a 38-year-old Syrian refugee male with early-onset extensive atherosclerosis. The physical and laboratory examination were remarkable with severe xanthomas in the upper and lower extremities and with low-density lipoprotein cholesterol (LDL-C) 417 mg/dL, total cholesterol 495 mg/dL, high-density lipoprotein cholesterol 30 mg/dL, and triglycerides 242 mg/dL. LDL-C level responded poorly to the high-dose statin treatment. Read More

    Severe xanthomatosis in heterozygous familial hypercholesterolemia.
    J Clin Lipidol 2018 Apr 3. Epub 2018 Apr 3.
    Division of Cardiology, Department of Pathology, McGill University Health Centre, Montreal, Canada.
    Background: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p. Read More

    Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole.
    J Clin Neurosci 2018 Jul 3;53:263-264. Epub 2018 May 3.
    Department of Neurology, Thomas Jefferson University, 901 Walnut St, Philadelphia, PA 19107, USA. Electronic address:
    Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disorder due to mutations in the CYP27A1 gene resulting in both systemic and neurologic manifestations from accumulation and deposition of cholestanol in tissues. Chenodeoxycholic Acid (CDCA) is the standard medical therapy, resulting in decreased cholestanol synthesis, however, neurologic improvement is typically not seen. Riluzole may have a symptomatic benefit in ataxia from a presumed protective effect on Purkinje cells. Read More

    Central xanthoma of the jaw in association with Noonan syndrome.
    Hum Pathol 2018 May 1. Epub 2018 May 1.
    Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Geisel School of Medicine at Dartmouth, Lebanon, NH.
    Xanthomas are histiocytic lesions of the skin, soft tissue and bone and are generally considered to be reactive in nature. When they arise in the bones of the jaw, they are referred to as central xanthomas. New evidence supports the hypothesis that central xanthomas are a separate and distinct entity from their extragnathic counterparts. Read More

    Eruptive xanthoma in the setting of hypertriglyceridemia and pancreatitis.
    Am J Emerg Med 2018 Apr 25. Epub 2018 Apr 25.
    Carl R. Darnall Army Medical Center, 36065 Santa Fe Ave., Fort Hood, TX 76544, United States.
    Background: Undifferentiated dermatologic complaints are often encountered in the emergency department. While a patient's exposures, risk factors, and comorbidities may help guide emergency department evaluation, the accurate diagnosis of dermatologic findings is critical to allowing rapid identification and treatment of disease.

    Case: In this vignette we discuss a case of eruptive xanthoma in a 33-year-old male with diabetic ketoacidosis and pancreatitis. Read More

    Evolocumab and lipoprotein apheresis combination therapy may have synergic effects to reduce low-density lipoprotein cholesterol levels in heterozygous familial hypercholesterolemia: A case report.
    J Clin Apher 2018 Apr 11. Epub 2018 Apr 11.
    Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University Hospital of Verona, Verona, Italy.
    A 49 years old woman (weight 68 kg, BMI 27.3 kg/m ) with heterozygous familial hypercholesterolemia (HeFH) and multiple statin intolerance with muscle aches and creatine kinase elevation, presented at the Outpatient Lipid Clinic of Verona University Hospital in May 2015. Hypercholesterolemia was firstly diagnosed during adolescence, followed in adulthood by a diagnosis of Cogan's syndrome, a rheumatologic disorder characterized by corneal and inner ear inflammation. Read More

    Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation.
    J Lipid Res 2018 Jun 6;59(6):1058-1070. Epub 2018 Apr 6.
    Swansea University Medical School, Swansea SA2 8PP, Wales, United Kingdom
    7-Oxocholesterol (7-OC), 5,6-epoxycholesterol (5,6-EC), and its hydrolysis product cholestane-3β,5α,6β-triol (3β,5α,6β-triol) are normally minor oxysterols in human samples; however, in disease, their levels may be greatly elevated. This is the case in plasma from patients suffering from some lysosomal storage disorders, e.g. Read More

    Planar xanthomas secondary to post-transplantation cholangiopathy in a 16-month-old boy.
    Pediatr Dermatol 2018 May 25;35(3):e163-e164. Epub 2018 Mar 25.
    Division of Dermatology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
    Planar xanthomas in children represent rare dermatologic findings associated with abnormalities in lipid metabolism. While planar xanthomas in Alagille's syndrome have been well described in the literature, there have been no cases reported of eruptive xanthomas in pediatric liver transplant patients. Herein we report a case of a 16-month-old boy status post-liver transplantation who presents with planar xanthomas secondary to cholangiopathy. Read More

    Two Cases of Surgical Management of Supravalvular Aortic Stenosis in Familial Hypercholesterolemia.
    Ann Thorac Surg 2018 Apr;105(4):e171-e174
    Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
    Homozygous familial hypercholesterolemia is a rare autosomal dominant disorder caused by gene mutations of the low-density lipoprotein receptor, generally characterized by three major signs-hyper low-density lipoprotein cholesterolemia, tendon/skin xanthomas, and premature atherosclerosis disease-beginning in childhood and including supravalvular aortic stenosis. To the best of our knowledge, only a few successful surgical cases for supravalvular aortic stenosis in these patients have been reported. We report two cases of homozygous familial hypercholesterolemia with severe supravalvular aortic stenosis and coronary artery disease associated with very small aortic root, managed by aortic root replacement concomitant with coronary artery bypass graft surgery, which resulted in excellent postoperative outcomes. 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

    Multiple Asymptomatic Juxta-Articular Nodules Mimicking Tuberous-Xanthoma-A Unusual Presentation of Tophaceous Gout.
    J Cutan Aesthet Surg 2017 Oct-Dec;10(4):223-225
    Department of Dermatology, STD and Leprosy, Indira Gandhi E.S.I.C Hospital, Jhilmil, New Delhi.
    Asymptomatic, juxta-articular nodules are an uncommon morphology, which is usually diagnosed as xanthomas, calcinosis cutis or rheumatoid nodules. This study was represented as a case of gout, which is a disorder of purine metabolism resulting in elevation of serum uric acid and deposition of monosodium urate crystals within and around joints and manifests clinically as inflammatory arthritis. Urate crystal deposits have also been found in tendons, ligaments, viscera, and the skin, with the term "tophi" being used for the non-articular deposits. 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

    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

    Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
    Intern Med 2018 Jun 9;57(11):1611-1616. 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

    Guidance for Pediatric Familial Hypercholesterolemia 2017.
    J Atheroscler Thromb 2018 Jun 6;25(6):539-553. Epub 2018 Feb 6.
    Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine.
    This paper describes consensus statement by Joint Working Group by Japan Pediatric Society and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial Hypercholesterolemia (FH) in order to improve prognosis of FH.FH is a common genetic disease caused by mutations in genes related to low density lipoprotein (LDL) receptor pathway. Because patients with FH have high LDL cholesterol (LDL-C) levels from the birth, atherosclerosis begins and develops during childhood which determines the prognosis. Read More

    [A Case of Xanthogranulomatous Cholecystitis That Changed Over Time and Was Difficult to Distinguish from Advanced Gallbladder Cancer].
    Gan To Kagaku Ryoho 2017 Nov;44(12):1925-1927
    Dept. of Surgery, NTT West Osaka Hospital.
    A 70-year-old man was referred because of suspected gallbladder cancer and gallstones. Contrast-enhanced CT, EOB-MRI and PET-CT could not completely rule out gallbladder cancer. The patient preferred follow-up without surgery. 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

    Xanthoma Disseminatum Presenting with Hoarseness.
    Iran J Otorhinolaryngol 2017 Nov;29(95):365-368
    Department of Pathology, JIPMER, Puducherry, India.
    Introduction: Xanthoma disseminatum (XD) is a rare, benign, non-Langerhans cell histiocytic disorder with unknown etio-pathology. It manifests with multiple, grouped, red-brown to yellow papules and nodules involving the skin, mucous membranes, and internal organs with a predilection for flexures and the face.

    Case Report: We report a patient who presented with disseminated xanthomatous papules and nodules involving the face, neck, trunk, axilla, groin, and oral cavity, along with hoarseness of voice. Read More

    Association between non-cholesterol sterol concentrations and Achilles tendon thickness in patients with genetic familial hypercholesterolemia.
    J Transl Med 2018 Jan 15;16(1). Epub 2018 Jan 15.
    Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), CIBERCV, Universidad de Zaragoza, Av. Isabel La Católica, 1-3, 50009, Saragossa, Spain.
    Background: Familial hypercholesterolemia (FH) is a genetic disorder that result in abnormally high low-density lipoprotein cholesterol levels, markedly increased risk of coronary heart disease (CHD) and tendon xanthomas (TX). However, the clinical expression is highly variable. TX are present in other metabolic diseases that associate increased sterol concentration. 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

    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

    A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up.
    J Clin Lipidol 2018 Jan - Feb;12(1):236-239. Epub 2017 Nov 11.
    The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing AnZhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China. Electronic address:
    Familial hypercholesterolemia (FH) is a common inherited disease that exhibits significantly increased levels of low-density lipoprotein cholesterol (LDL-C), skin or tendon xanthomas, corneal arcus and premature coronary heart disease (CHD). The prevalence of heterozygous FH is nearly 1/300 worldwide, and the prevalence of homozygous FH (HoFH) is 1/160,000 - 1/300,000. The Dutch Lipid Clinic Network diagnostic (DLCN) criteria is the most commonly recommended criteria for diagnosing FH patients. 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

    Miscellaneous skin disease and the metabolic syndrome.
    Clin Dermatol 2018 Jan - Feb;36(1):94-100. Epub 2017 Sep 8.
    Department of Dermatology, Istanbul Medeniyet University, Medical School, Istanbul, Turkey. Electronic address:
    The link between the metabolic syndrome (MetS) and skin diseases is increasingly important, with new associations being discovered. The association between MetS and psoriasis or MetS and hidradenitis suppurativa is well known, although the relationship between MetS and various autoimmune or inflammatory diseases has only recently attracted interest. Some inflammatory skin diseases, such as vitiligo, scleredema, recurrent aphthous stomatitis, Behçet disease, rosacea, necrobiosis lipoidica, granuloma annulare, skin tags, knuckle pads, and eruptive xanthomas, have possible associations with MetS. Read More

    Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
    J Clin Lipidol 2018 Jan - Feb;12(1):230-235.e6. Epub 2017 Oct 26.
    Department of Endocrinology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China; Key Laboratory of Rare Metabolic Diseases, Nanjing Medical University, Nanjing, China; State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University, Nanjing, China. Electronic address:
    Background: Homozygous familial hypercholesterolemia is characterized by extremely elevated serum low-density lipoprotein cholesterol (LDL-C) levels and increased risk of cardiovascular complications due to biallelic mutations in LDL receptor (LDLR).

    Objective: We present a 10-year-old Chinese homozygous familial hypercholesterolemia boy with biallelic LDLR mutations including an extremely rare de novo mutation.

    Methods: Detailed family history and clinical and biochemical data were gathered from the pedigree. Read More

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