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    Treatment of xanthelasma palpebrarum with a 1064-nm, Q-switched Nd:YAG laser.
    J Am Acad Dermatol 2017 Jun 27. 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 Jun 17. 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

    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 May 13. 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 May 11:1-4. 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

    Inflammatory Mediators in Xanthelasma Palpebrarum: Histopathologic and Immunohistochemical Study.
    Ophthal Plast Reconstr Surg 2017 May 5. Epub 2017 May 5.
    *Department of Ophthalmology, California Pacific Medical Center, San Francisco, California, †Departments of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, and ‡Center for Preventive Ophthalmology and Biostatistics, Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, Philadelphia, Pennsylvania, U.S.A.
    Purpose: To evaluate the expression of inflammatory mediators in xanthelasma palpebrarum.

    Methods: In this retrospective histopathologic case-control study, xanthelasma specimens obtained from the private practice and pathology archives of 1 author (R.Z. Read More

    A Case Report of Xanthogranulomatous Cystitis.
    Urol Case Rep 2017 Jul 26;13:72-73. Epub 2017 Apr 26.
    Department of Urology, Southern Medical University, Guangzhou, Guangdong, China.
    Xanthogranulomatous cystitis (XC) is a chronic granulomatous inflammation with rare incidence. Herein, we report a 62-year-old female whose cystoscopic biopsy showed chronic inflammation accompanied with acute episode of inflammation. According to CT scan, pathology of the lesion could not rule out bladder carcinoma. 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 Jun 23;136(6):705-714. 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 May 21;264(5):862-874. 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 May 17;58(5):1002-1007. Epub 2017 Mar 17.
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
    Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which 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 (DBS) screening assay for this disorder on the basis of different ratios between the accumulating cholestanetetrol glucuronide (tetrol) and specific bile acids/bile acid intermediates, without the need for derivatization. A quarter-inch DBS punch was extracted with methanol, internal standards were added, and after concentration the extract was injected into the tandem mass spectrometer using a 2 min flow injection analysis for which specific transitions were measured for cholestanetetrol glucuronide, taurochenodeoxycholic acid (t-CDCA), and taurotrihydroxycholestanoic 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):49-52
    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 Jun 14;595(11):3607-3620. Epub 2017 Mar 14.
    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 Fall 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

    Aberrant tyrosinase expression in an atypical fibroxanthoma: A case report.
    J Cutan Pathol 2017 May 16;44(5):467-469. Epub 2017 Feb 16.
    Division of Dermatology, Rutgers University - New Jersey Medical School, Newark, New Jersey.
    Atypical fibroxanthoma (AFX) is a histologic mimicker of a variety of spindle cell neoplasms, and careful microscopic and immunohistochemical evaluation is critical in establishing the correct diagnosis. Here we report the histologic and immunohistochemical work up of a 1 cm nodule involving the left dorsal hand of a 66-year-old patient. Light microscopy revealed fascicles of spindled and pleomorphic cells within the dermis showing increased mitotic activity occurring in the background of sun-damaged skin. 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

    Value of the Definition of Severe Familial Hypercholesterolemia for Stratification of Heterozygous Patients.
    Am J Cardiol 2017 Mar 2;119(5):742-748. Epub 2016 Dec 2.
    Unidad Clínica e Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, IIS Aragón, Universidad de Zaragoza, Zaragoza, Spain.
    Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein (LDL) cholesterol with co-dominant transmission and high risk of cardiovascular disease (CVD), although with high variability among subjects. Currently, CVD stratification tools for heterozygous FH (HeFH) are not available. A definition of severe HeFH has been recently proposed by the International Atherosclerosis Society (IAS), but it has not been validated. 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 of the penis: A rare benign lesion that simulates carcinoma.
    Arch Ital Urol Androl 2016 Dec 30;88(4):284-285. Epub 2016 Dec 30.
    Department of Urology, IRCCS San Martino, University of Genova.
    Verruciform xanthoma is a rare and benign condition predominantly affecting the oral cavity, but also skin and female anogenital mucosa. It can be flat, papular-warty or crateriform-cystic. Furthermore it can simulate HPV viral lesion such as condyloma and malignant neoplasia such as verrucous squamous cell carcinoma. 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

    [Disseminated necrobiotic xanthogranuloma].
    Hautarzt 2016 Nov;67(11):902-906
    Klinik für Dermatologie und Allergologie, Krankenhaus Dresden-Friedrichstadt, Städtisches Klinikum, Akademisches Lehrkrankenhaus der TU Dresden, Friedrichstr. 41, 01067, Dresden, Deutschland.
    Necrobiotic xanthogranuloma is a rare non-Langerhans-cell histiocytosis. A 62-year-old woman presented with yellowish erythematous plaques, nodules, and papules in the periorbital region and the extremities. She had a nodular tumor grown on the left upper lid that clinically resembled a keratoacanthoma. Read More

    Skin tumours and skin aging in 209 French elderly people: the PROOF study.
    Eur J Dermatol 2016 Oct;26(5):470-476
    Department of Dermatology, University Hospital of Saint Etienne, Cedex 2, 42055 Saint Etienne, France.
    Few studies have evaluated the prevalence of skin tumours in the geriatric population and none have analysed different skin aging parameters for whole-body skin in this population. To evaluate the prevalence of skin tumours and global skin aging in a French cohort of elderly people. In total, 209 subjects, 105 women and 104 men (mean age: 77. Read More

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