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    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 Jan 10. 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 2017 Dec 21. Epub 2017 Dec 21.
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine.
    A 63-year-old man was hospitalized due to an abdominal pulsatile mass. Computed tomography revealed a saccular type abdominal aortic aneurysm (AAA), 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 Dec 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

    Xanthomatous Hypophysitis Presenting with Diabetes Insipidus Completely Cured Through Transsphenoidal Surgery: Case Report and Literature Review.
    World Neurosurg 2017 Aug 3;104:1051.e7-1051.e13. Epub 2017 Jun 3.
    Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, and Peking Union Medical College, Beijing, People's Republic of China. Electronic address:
    Background: Xanthomatous hypophysitis (XH) is extremely rare. Only 27 cases have been reported in the literature. No XH patient presenting with diabetes insipidus (DI) has been completely cured through surgery. Read More

    Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities.
    J Res Med Sci 2017 26;22:53. Epub 2017 Apr 26.
    Isfahan Eye Research Center, Feiz Eye Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
    The hyperimmunoglobulin E syndromes (HIESs) are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE), recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. Read More

    Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis.
    Pediatr Neurol 2017 Aug 18;73:98-100. Epub 2017 Apr 18.
    Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
    Background: This report highlights the differential diagnosis of predominant cerebellar white matter abnormalities with dentate nuclei involvement.

    Patient Description: We describe two individuals with Langerhans cell histiocytosis in whom the diagnosis of cerebrotendinous xanthomatosis was initially considered. The clinical picture consisted of a progressive cerebellar syndrome with typical magnetic resonance imaging abnormalities. Read More

    The clinical spectrum of Erdheim-Chester disease: an observational cohort study.
    Blood Adv 2017 Feb;1(6):357-366
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health. 10 Center Dr, Bldg 10, Room 3-2551, Bethesda, Maryland, USA, 20892. Telephone: 301-594-2952.
    Erdheim-Chester Disease (ECD) is a rare, potentially fatal, multi-organ myeloid neoplasm occurring mainly in adults. The diagnosis is established by clinical, radiologic, and histologic findings; ECD tumors contain foamy macrophages that are CD68+, CD163+, CD1a-, and frequently S100-. The purpose of this report is to describe the clinical and molecular variability of ECD. Read More

    Xanthoma Disseminatum in a Young Patient with Diabetes Insipidus.
    Pediatr Dermatol 2017 May;34(3):e144-e145
    Department of Dermatology, Jinling Hospital, Medical School of Nanjing University, Nanjing, China.
    Xanthoma disseminatum (XD) is a nonfamilial type of normolipidemic mucocutaneous xanthomatosis that belongs to the group of non-Langerhans cell histiocytoses. More than 100 cases of XD have been reported. In this study we report a case of XD in a 4-year-old boy with diabetes insipidus (DI). Read More

    Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report.
    Ann Rehabil Med 2017 Apr 27;41(2):313-317. Epub 2017 Apr 27.
    Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
    Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with cerebrotendinous xanthomatosis. The patient presented with bilateral Achilles tendon enlargement and foot hypesthesia. Read More

    Detecting familial hypercholesterolemia: The Jack and the Beanstalk principle.
    J Clin Lipidol 2017 Mar - Apr;11(2):575-578. Epub 2017 Feb 22.
    School of Medicine, University of Western Australia, Perth, Western Australia, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Royal Perth Hospital, Perth, Western Australia, Australia.
    We report the case of an 8-year-old girl who was fortuitously diagnosed with familial hypercholesterolemia (FH) while being investigated for obesity. She had a fasting total cholesterol of 11.8 mmol/L and a low-density lipoprotein cholesterol level of 10. Read More

    The clinical spectrum of xanthomatous lesions of the eyelids.
    Int J Dermatol 2017 Oct 13;56(10):981-992. Epub 2017 May 13.
    Pathology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
    Yellowish papules, nodules, or plaques, namely "xanthomatous" lesions, may be seen on the eyelids in the course of various disorders. The prototype is "xanthelasma palpebrarum" (XP) that is localized only to the eyelids and may be associated with hyperlipidemia. On the other hand, different types of normolipemic disorders may also cause xanthomatous eyelid lesions. Read More

    Influence of low-level laser on pain and inflammation in type 2 diabetes mellitus with diabetic dermopathy - A case report.
    J Cosmet Laser Ther 2017 Oct 11;19(6):360-363. Epub 2017 May 11.
    a Kasturba Medical College (KMC), Manipal University , Manipal , India.
    Numerous skin lesions have been commonly observed in individuals with diabetes mellitus. The common skin manifestations of diabetes mellitus are erythrasma, xanthomatosis, xanthelasma, phycomycetes and cutaneous infections like furuncolosis, candidiasis, carbuncle, dermatophytosis, etc. Diabetic dermopathy is the most common skin lesion found in patients with diabetes. Read More

    Management of cholestatic pruritus in children with Alagille syndrome: Case report and literature review.
    Arch Pediatr 2016 Dec 27;23(12):1247-1250. Epub 2016 Oct 27.
    Pediatric department, Hedi Chaker Hospital, El ain street km 0,5, 3029 Sfax, Tunisia.
    Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. Drug therapy in addition to surgical intervention may be effective in many patients in reducing serum bile acids, cholesterol levels, pruritus, and skin xanthomas. In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities. Read More

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