Search our Database of Scientific Publications and Authors

I’m looking for a

    5509 results match your criteria Xanthomas

    1 OF 111

    Large Subcutaneous Multi-xanthoma in Familial Hypercholesterolemia.
    Hellenic J Cardiol 2017 Apr 22. Epub 2017 Apr 22.
    Department of Cardiology, Chinese PLA General Hospital, Beijing, China. Electronic address:
    Familial hypercholesterolemia commonly manifests with early onset of atherosclerosis, remarkable skin and tendon xanthomas. Cutaneous xanthomas mostly appear in epidermis. The xanthomas of this case appeared in subcutaneous of ear and sacral region with large bulk. Read More

    Lipoprotein-X in cholestatic patients causes xanthomas and promotes foam cell formation in human macrophages.
    J Clin Lipidol 2017 Jan - Feb;11(1):110-118. Epub 2016 Nov 5.
    Department of Clinical Laboratory Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan. Electronic address:
    Background: Lipoprotein-X (Lp-X) is an abnormal phospholipid-rich lipoprotein found in patients with cholestatic liver disease. Some patients exhibit skin xanthomas and severe hyperlipidemia.

    Objective: We investigated whether Lp-X induces foam cell formation in human-derived macrophages. 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

    Analysis of mutations causing familial hypercholesterolaemia in black South African patients of different ancestr.
    S Afr Med J 2017 Jan 30;107(2):145-148. Epub 2017 Jan 30.
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Sciences, University College London, UK.
    Background: Familial hypercholesterolaemia (FH) is usually caused by mutations in three genes (LDLR, APOB and PCSK9).

    Objective: To identify the spectrum of FH-causing mutations in black South African (SA) patients.

    Methods: DNA samples of 16 unrelated South African FH patients with elevated low-density lipoprotein cholesterol levels, tendon xanthomas and corneal arcus (3 clinically homozygous FH and 13 heterozygous FH) of ethnic African origin were screened for mutations in the LDLR (coding region, promoter and intron/exon boundaries), APOB (part of exon 26) and PCSK9 genes (exon 7), using high-resolution melting. 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

    Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study.
    Lancet Diabetes Endocrinol 2017 Apr 16;5(4):280-290. Epub 2017 Feb 16.
    Metabolic and Atherosclerosis Research Center, Cincinnati, OH, USA. Electronic address:
    Background: Homozygous familial hypercholesterolaemia is a genetic disorder characterised by substantially raised LDL cholesterol, reduced LDL receptor function, xanthomas, and cardiovascular disease before age 20 years. Conventional therapy is with statins, ezetimibe, and apheresis. We aimed to assess the long-term safety and efficacy of the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor evolocumab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an open-label, non-randomised phase 3 trial. Read More

    A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe.
    Clin Pediatr Endocrinol 2017 Jan 31;26(1):17-23. Epub 2017 Jan 31.
    Department of Pediatrics, Kawasaki Medical School, Okayama, Japan.
    Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the "ATP-binding cassette, subfamily G" member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24. 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

    Left main coronary angioplasty of a 9-year-old child with bioresorable vascular scaffold.
    Catheter Cardiovasc Interv 2017 Apr 10;89(5):867-871. Epub 2017 Feb 10.
    Cardiac Cath Lab, Fortis Hospitals, Mumbai, 400078, India.
    Familial hypercholesterolemia is an autosomal dominant disorder due to mutations in the low-density lipoprotein receptor gene, characterized by skin and tendon xanthomas, xanthelasmas, and increased risk of premature coronary artery disease. Here, we report a case of 9-year-old girl who presented with angina and dyspnoea on exertion with xanthomas and an elevated serum cholesterol and triglyceride. She had severe stenosis of the left main coronary artery (LMCA) requiring angioplasty and placement of Bioresorbable vascular scaffold (BVS). Read More

    Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.
    J Atheroscler Thromb 2017 Mar 8;24(3):189-207. Epub 2017 Feb 8.
    Division of Clinical Lipidology, Department of Cardiology, Kanazawa University.
    Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or on X-ray is an indispensable diagnostic skill in clinical lipidology. 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

    [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

    Multiple large xanthomas: A case report.
    Oncol Lett 2016 Dec 18;12(6):4327-4332. Epub 2016 Oct 18.
    Department of Orthopedics, The Second Clinical Medical College, Wenzhou Medical University, Wenzhou, Zhejiang 325000, P.R. China.
    A 23-year-old male patient presented with multiple large masses in his elbows, buttocks, knees, Achilles tendons, feet, shoulders and hands. The large masses in the elbows and buttocks measured ~6×5×5 cm and ~7×5×4 cm, respectively. The patient presented with an elevated level of low-density lipoprotein cholesterol, and had been previously diagnosed with homozygous familial hypercholesterolemia (FH) and multiple xanthomas. Read More

    Familial dysbetalipoproteinemia: an underdiagnosed lipid disorder.
    Curr Opin Endocrinol Diabetes Obes 2017 Apr;24(2):133-139
    aVascular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands bDivision of Chemical Pathology, University of Cape Town Health Science Faculty and National Health Laboratory Service, Cape Town, South Africa.
    Purpose Of Review: To review pathophysiological, epidemiological and clinical aspects of familial dysbetalipoproteinemia; a model disease for remnant metabolism and remnant-associated cardiovascular risk.

    Recent Findings: Familial dysbetalipoproteinemia is characterized by remnant accumulation caused by impaired remnant clearance, and premature cardiovascular disease. Most familial dysbetalipoproteinemia patients are homozygous for apolipoprotein ε2, which is associated with decreased binding of apolipoprotein E to the LDL receptor. 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

    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

    Mutation detection in Chinese patients with familial hypercholesterolemia.
    Springerplus 2016 12;5(1):2095. Epub 2016 Dec 12.
    The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410013 China ; Department of Cardiology, The Second Xiangya Hospital of Central South University, Changsha, 410011 China.
    Background: Familial hypercholesterolemia (FH) is the first molecularly and clinically characterized genetic disease of lipid metabolism. It is an autosomal dominant disorder with significantly elevated levels of total cholesterol and low density of lipoprotein cholesterol in serum, which would lead to extensive xanthomas and premature coronary heart disease. Mutations in low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 and Apo lipoprotein B-100 (APOB) have been identified to be the underlying cause of this disease. 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

    Early severe coronary artery disease and aortic coarctation in a child with familial hypercholesterolaemia.
    BMJ Case Rep 2016 Nov 30;2016. Epub 2016 Nov 30.
    Department of Cardiovascular Medicine, Cairo University, Giza, Egypt.
    An 11-year-old boy presented with easy fatigability, multiple xanthomas, and absent pedal pulsations. Laboratory workup showed severe hypercholesterolaemia and non-invasive imaging revealed 'normally functioning' bicuspid aortic valve and tight aortic coarctation. Coronary angiography showed severe right coronary artery (RCA) stenosis. 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

    Vegas (Verruciform Genital-Associated) Xanthoma: A Comprehensive Literature Review.
    Dermatol Ther (Heidelb) 2017 Mar 15;7(1):65-79. Epub 2016 Nov 15.
    Department of Dermatology, University of California San Diego, La Jolla, CA, USA.
    Introduction: Verruciform xanthoma is a wart-like benign lesion. The classic histologic appearance consists of foamy histiocytes within elongated dermal papillae and epithelial acanthosis. The lesion most commonly occurs in the oral cavity, but has been reported in extra-oral sites such as the penis, scrotum, and vulva. 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

    Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
    Atherosclerosis 2016 Dec 14;255:31-36. Epub 2016 Oct 14.
    Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.
    Background And Aims: Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas since childhood, with or without cardiac involvement. FH is commonly caused by mutations in three genes, i. Read More

    Exceptionally elevated triglyceride in severe lipemia retinalis.
    Int Med Case Rep J 2016 21;9:333-336. Epub 2016 Oct 21.
    Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine; Ocular Surface Center, Miami.
    Purpose: To report a case of successful treatment for severe lipemia retinalis with extreme severe hypertriglyceridemia (sHTG).

    Design: Observational case report.

    Observations: A 6-week-old infant with severe lipemia retinalis manifested diffuse creamy retinal vessels complicated with vulvar xanthomas. 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

    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

    Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.
    J Dermatol 2016 Nov 12;43(11):1340-1344. Epub 2016 Jul 12.
    Department of Dermatology, Kawasaki Medical School, Kurashiki, Japan.
    Sitosterolemia is a very rare autosomal recessive lipoprotein metabolic disorder caused by homozygous or compound heterozygous mutations in one of the two adenosine triphosphate-binding cassette transporter genes, ABCG5 and ABCG8. Sitosterolemia is clinically characterized by xanthomas and atherosclerosis, arthritis, fever, hemolysis and macrothrombocytopenia even in early childhood. We described a 16-month-old girl, who had numerous yellowish-brown intertriginous xanthomas along the skin creases on the extremities with severe hypercholesterolemia and elevated plant sterol levels. Read More

    Central Xanthoma of the Jaw Bones: A Benign Tumor.
    Head Neck Pathol 2016 Oct 22. Epub 2016 Oct 22.
    Tufts University School of Dental Medicine, Dunedin, FL, USA.
    Extragnathic xanthomas are seen in the bones or as soft tissue masses. They are often associated with hyperlipidemia and are considered as reactive or metabolic lesions. Only 19 cases of xanthomas of the jaws have been reported so far in the English literature. 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

    1 OF 111