5,816 results match your criteria Xanthoma of the Prostate


Diagnostic accuracy of ultrasound and MRI for Achilles tendon xanthoma in people with familial hypercholesterolemia: A systematic review.

J Clin Lipidol 2018 Nov 7. Epub 2018 Nov 7.

Department of Medicine, Centre for Heart and Lung Innovation, University of British Columbia, Vancouver, British Columbia, Canada.

Background: Achilles tendon xanthoma (ATX) results from tendon thickening and subclinical inflammation triggered by hypercholesterolemia, and is associated with more severe coronary artery disease and a higher risk of cardiovascular events. The ability to detect ATX by clinical examination is limited, and diagnostic imaging, for instance, using ultrasonography or magnetic resonance imagine (MRI), may improve the identification of ATX. However, the accuracy of ultrasound (US) imaging or MRI in identifying ATX in people with familial hypercholesterolemia (FH) has not been systematically reviewed. Read More

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November 2018
1 Read

Neuroimaging Applications in Chronic Ataxias.

Int Rev Neurobiol 2018 29;143:109-162. Epub 2018 Oct 29.

Nuclear Medicine, "Le Scotte" University Hospital, Siena, Italy.

Magnetic resonance imaging (MRI), single photon emission computed tomography (SPECT) and positron emission tomography (PET) are the main instruments for neuroimaging investigation of patients with chronic ataxia. MRI has a predominant diagnostic role in the single patient, based on the visual detection of three patterns of atrophy, namely, spinal atrophy, cortical cerebellar atrophy and olivopontocerebellar atrophy, which correlate with the aetiologies of inherited or sporadic ataxia. In fact spinal atrophy is observed in Friedreich ataxia, cortical cerebellar atrophy in Ataxia Telangectasia, gluten ataxia and Sporadic Adult Onset Ataxia and olivopontocerebellar atrophy in Multiple System Atrophy cerebellar type. Read More

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October 2018
2 Reads

Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1-/- mouse brain and plasma.

Biochim Biophys Acta Mol Cell Biol Lipids 2018 Nov 21. Epub 2018 Nov 21.

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea SA2 8PP, UK. Electronic address:

Cytochrome P450 (CYP) 27A1 is a key enzyme in both the acidic and neutral pathways of bile acid biosynthesis accepting cholesterol and ring-hydroxylated sterols as substrates introducing a (25R)26-hydroxy and ultimately a (25R)26-acid group to the sterol side-chain. In human, mutations in the CYP27A1 gene are the cause of the autosomal recessive disease cerebrotendinous xanthomatosis (CTX). Surprisingly, Cyp27a1 knockout mice (Cyp27a1-/-) do not present a CTX phenotype despite generating a similar global pattern of sterols. Read More

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November 2018
2 Reads

Recurrent tendosynovitis as a rare manifestation of a lipid disorder.

J Clin Lipidol 2018 Oct 24. Epub 2018 Oct 24.

Department of Internal Medicine V (Nephrology, Rheumatology, Hypertensiology, Endocrinolgy, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany; Mannheim Institute of Public Health, Social and Preventive Medicine, Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany. Electronic address:

A 33-year-old female had suffered from spontaneously recurrent bursitis and tendosynovitis/enthesitis of the patellar and Achilles tendons for about 10 years. The episodes of immobilization increased. Ultrasound imaging of the swollen and painful tendons showed chronic inflammation with neoangiogenesis within the tendons and hypoechoic lesions. Read More

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October 2018
1 Read

Halo formations around senile hemangiomas in diffuse plane normolipemic xanthomatosis associated with monoclonal gammopathy.

JAAD Case Rep 2018 Nov 10;4(10):1034-1036. Epub 2018 Nov 10.

Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.

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November 2018

Gastric Xanthoma is a Predictive Marker for Early Gastric Cancer Detected after Helicobacter pylori Eradication.

Intern Med 2018 Nov 19. Epub 2018 Nov 19.

Department of Gastroenterology, NTT West Osaka Hospital, Japan.

Background: The detection of early gastric cancer (GC) after Helicobacter pylori eradication is expected to increase in Japan. However, the predictive markers for early GC detected after H. pylori eradication have not been extensively studied. Read More

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November 2018

Cutaneous and laryngopharyngeal papules of xanthoma disseminatum successfully treated with 2-chlorodeoxyadenosine.

JAAD Case Rep 2018 Nov 30;4(10):990-992. Epub 2018 Oct 30.

Department of Dermatology, University of Michigan, Ann Arbor, Michigan.

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November 2018

Spectrum of mutations of familial hypercholesterolemia in the 22 Arab countries.

Atherosclerosis 2018 Oct 19;279:62-72. Epub 2018 Oct 19.

College of Health Sciences, Biomedical Program, Qatar University, Doha, Qatar. Electronic address:

Background And Aims: Familial hypercholesterolemia (FH) is an inherited genetic disorder of lipid metabolism characterized by a high serum LDL-cholesterol profile and xanthoma formation, and FH increases the risk of premature atherosclerosis and cardiovascular disease (CVD). Mutations in the low-density lipoprotein (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin 9 (PCSK9), and LDLRAP1 genes have been associated with FH. Although FH is a major risk for CVD, the disease prevalence and its underlying molecular basis in the 22 Arab countries are still understudied. Read More

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October 2018
8 Reads

Eruptive xanthomas in a patient with soft-drink diabetic ketosis and apolipoprotein E4/2.

Endocr J 2018 Nov 2. Epub 2018 Nov 2.

Department of Diabetes and Metabolism, Tohoku University Hospital, Sendai, Miyagi 980-8575, Japan.

Soft-drink diabetic ketosis, characterized by acute onset ketosis induced by excessive ingestion of sugar-containing drinks, is often seen in obese, young patients, even with undiagnosed type 2 diabetes. We herein report a 15-year-old obese patient with the apolipoprotein E4/2 phenotype, in whom eruptive xanthomas lead to a diagnosis of soft-drink diabetic ketosis. He developed multiple asymptomatic yellowish papules on the auricles, back, buttocks and the extensor surfaces of the elbows and knees. Read More

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November 2018
10 Reads

Inflammasome Activation Aggravates Cutaneous Xanthomatosis and Atherosclerosis in ACAT1 (Acyl-CoA Cholesterol Acyltransferase 1) Deficiency in Bone Marrow.

Arterioscler Thromb Vasc Biol 2018 Nov;38(11):2576-2589

From the Division of Endocrinology and Metabolism, Department of Internal Medicine (T.W., M.T., D.Y., A.T., S.T., H.Y., S.N., K.E., S.I.), Jichi Medical University, Shimotsuke, Japan.

Objective- ACAT1 (Acyl-CoA cholesterol acyltransferase 1) esterifies cellular free cholesterol, thereby converting macrophages to cholesteryl ester-laden foam cells in atherosclerotic lesions and cutaneous xanthoma. Paradoxically, however, loss of ACAT1 in bone marrow causes the aggravation of atherosclerosis and the development of severe cutaneous xanthoma in hyperlipidemic mice. Recently, it has been reported that cholesterol crystals activate NLRP3 (NACHT, LRR [leucine-rich repeats], and PYD [pyrin domain] domain-containing protein 3) inflammasomes, thereby contributing to the development of atherosclerosis. Read More

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November 2018
1 Read

Verruciform xanthoma overlying inflammatory linear verrucous epidermal nevus and in broad segmental distribution.

BMJ Case Rep 2018 Oct 17;2018. Epub 2018 Oct 17.

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

A 17-year-old woman presented with moderately itchy, non-progressive, linearly arranged verrucous plaques over dorsum of left foot since early childhood. Two years ago, she developed slowly increasing, verrucous exophytic growth in posterior most aspect of linear verrucous plaque. One year ago, she also developed multiple, linearly arranged, fleshy plaques with surface crusting over lateral aspect of right leg extending to thigh. Read More

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October 2018

A new presentation of isolated cutaneous Rosai-Dorfman disease: Eruptive xanthoma-like lesions.

Indian J Dermatol Venereol Leprol 2018 Oct 17. Epub 2018 Oct 17.

Department of Dermatology, Andrology and STDs, Port Said University, Port Said, Egypt.

Rosai-Dorfman disease or sinus histiocytosis with massive lymphadenopathy is a benign lympho-histiocytic proliferative disorder initially described with bilateral painless lymphadenopathy (90 %), fever, leukocytosis, elevated ESR, anemia, and polyclonal hypergammaglobulinemia (90 %). Extranodal forms occur in 43% of cases, the skin being the most common site. Around 10% of patients have skin lesions and in 3%, the disease is limited exclusively to the skin. Read More

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October 2018

Neck xanthogranuloma mimicking malignancy in a patient with diabetes mellitus: A case report and literature review.

Medicine (Baltimore) 2018 Oct;97(40):e12615

Department of Otolaryngology, Head and Neck Surgery, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan.

Rationale: Xanthogranulomatous inflammation (XGI) is a rare inflammatory process, which mostly affects the kidney and gallbladder. It usually simulates an aggressive neoplastic process. Occurrences in the neck are extremely rare and would usually be associated with a preexisting cyst or glandular tissues. Read More

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October 2018
6 Reads

Psychiatric Disorders Secondary to Neurometabolic Disorders.

Rev Colomb Psiquiatr 2018 Oct - Dec;47(4):244-251. Epub 2017 Jun 17.

Service Universitaire de Psychiatrie de l'Enfant et de l'Adolescent, Université de Nantes, Nantes, Francia.

Some diseases secondary to inborn errors of metabolism are associated with psychiatric disorders or minor neurological symptoms. The existence of some cases with exclusively psychiatric symptoms represents a diagnostic and therapeutic challenge. The aim of this article is to describe seven treatable neurometabolic disorders that should be taken into account in the psychiatric consultation as they manifest with psychiatric symptoms that mask the organic origin of the disorder. Read More

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June 2017
2 Reads

Cerebrotendinous xanthomatosis presenting with extensive cerebral cortex symptoms: A case report.

Clin Neurol Neurosurg 2018 Nov 20;174:217-219. Epub 2018 Sep 20.

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1, Honjo, Chuo-ku, Kumamoto 860-8556, Japan. Electronic address:

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November 2018
11 Reads

Two-year-old girl with tuberous xanthomas.

J Clin Pathol 2018 10;71(10):860-862

Medical School, University of Valencia, Valencia, Spain.

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October 2018
1 Read

Verruciform Xanthoma with Equivocal Exfoliative Cytological Diagnosis.

Bull Tokyo Dent Coll 2018 ;59(3):193-200

Department of Oral and Maxillofacial Surgery, Tokyo Dental College.

Verruciform xanthoma (VX), a papillary or wart-like lesion of the mucosa, is histopathologically characterized by papillary projection of the epithelium and an aggregation of foam cells in the lamina propria. Here, we describe a case of VX in the posterior mandibular gingiva, initially suspected to be a benign lesion based on clinical findings and cytology prior to an excisional biopsy. The patient was a 62-year-old man who had visited a local dentist approximately 1 year earlier, presenting with a white lesion in the left posterior mandibular gingiva that resisted removal by scraping. Read More

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January 2018

Verruciform and Condyloma-like Squamous Proliferations in the Anogenital Region.

Authors:
May P Chan

Arch Pathol Lab Med 2018 Sep 11. Epub 2018 Sep 11.

From the Department of Pathology, University of Michigan Health System, Ann Arbor.

Context: - Histologic distinction between condyloma acuminatum and various benign and malignant condyloma-like lesions in the anogenital area poses a common diagnostic challenge to pathologists across subspecialties.

Objective: - To review the overlapping and distinguishing features of condyloma acuminatum and its mimics, and to clarify confusing terminology and diagnostic criteria for problematic entities.

Data Sources: - A review of the literature on condyloma acuminatum (ordinary and giant types), verrucous carcinoma, warty/warty-basaloid high-grade squamous intraepithelial lesion and squamous cell carcinoma, papillary squamous cell carcinoma, bowenoid papulosis, verruca vulgaris, epidermolytic acanthoma, and verruciform xanthoma was performed. Read More

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September 2018
5 Reads

Xanthomatous meningioma: A metaplastic or degenerative phenomenon?

Neuropathology 2018 Sep 5. Epub 2018 Sep 5.

Division of Neurosurgery, Department of Surgery, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latiff, Bandar Tun Razak, Kuala Lumpur, Malaysia.

Xanthomatous changes can be observed in various conditions including primary xanthomatosis that is linked to an underlying hypercholesterolemia and more commonly associated with secondary xanthomatous degenerative processes in neoplasm and chronic inflammation. Meningioma with extensive xanthomatous change is exceedingly rare. The presence of cholesterol clefts within this peculiar meningioma subtype has not been described. Read More

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September 2018
12 Reads

Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis.

Indian Heart J 2018 Jul - Aug;70(4):575-577. Epub 2018 Jan 8.

Department of Cardiology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India. Electronic address:

Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. Read More

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October 2018
5 Reads

Familial hypercholesterolemia revealed by multiple xanthomas.

Pan Afr Med J 2018;30:29. Epub 2018 May 16.

Service of Endocrinology, Diabetology and Metabolic Diseases, University Hospital of Marrakech, Marrakech, Morocco.

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October 2018
3 Reads

Gastric xanthelasma associated with hyperplastic polyp and mucosal erosions: report of an unusual case and literature review.

Oxf Med Case Reports 2018 Aug 11;2018(8):omy051. Epub 2018 Aug 11.

Department of Pathology, Histopathology Unit, King Saud University, King Khalid University Hospital, Riyadh, Saudi Arabia.

Gastric xanthelasma is a rare benign tumor-like lesion which is usually observed as an incidental finding due to its asymptomatic presentation. Grossly, it is a well-demarcated yellow-white plaque which is microscopically formed by clusters of foamy macrophages in the lamina propria. The pathogenesis and clinical significance are not clear. Read More

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[Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis].

Rev Med Chil 2018 Jun;146(6):745-752

Departamento de Nutrición, Diabetes y Metabolismo, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Background: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the longterm complications observed in this disease.

Aim: To identify and hierarchize initial clinical signs of CTX to establish an early diagnostic suspicion index. Read More

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June 2018
8 Reads

Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment.

J Lipid Res 2018 Nov 22;59(11):2214-2222. Epub 2018 Aug 22.

Institute of Human Genetics, Galilee Medical Center, Naharia, Israel

Cerebrotendinous xanthomatosis (CTX) is a progressive metabolic leukodystrophy. Early identification and treatment from birth onward effectively provides a functional cure, but diagnosis is often delayed. We conducted a pilot study using a two-tier test for CTX to screen archived newborn dried bloodspots (DBSs) or samples collected prospectively from a high-risk Israeli newborn population. Read More

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November 2018
1 Read

Verruciform xanthoma of the penis: A rare case with an unusual clinical morphology.

Indian J Dermatol Venereol Leprol 2018 Sep-Oct;84(5):600-602

Department of Pathology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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August 2018
6 Reads

Gastrointestinal: The first report of an esophageal xanthoma in the cervical inlet patch.

J Gastroenterol Hepatol 2018 Aug 6. Epub 2018 Aug 6.

Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

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Plexiform Xanthomatous Tumor, Variety of Xanthoma or Subtype of Fibrohistiocytic Tumors?

Am J Dermatopathol 2018 Jul 31. Epub 2018 Jul 31.

Departments of Pathology, and.

Plexiform xanthomatous tumor was proposed as an independent neoplasm within fibrohistiocytic tumor group a few years ago. The arguments were based on their different clinical features as well as their own morphological and immunohistochemical findings. Nevertheless, it has not been widely studied yet, and there are few reports about this entity. Read More

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July 2018
1 Read

Fox-Fordyce disease: report of two cases with perifollicular xanthomatosis on histological image.

An Bras Dermatol 2018 Jul-Aug;93(4):562-565

Clínica Dermatológica Valdés - León, Guanajuato, Mexico.

Fox-Fordyce disease is a relatively infrequent pathology of the apocrine glands that affects almost exclusively young women. The disease is characterized by the presence of pruritic follicular papules mainly in the armpits that respond poorly to treatment and severely affect the patient's quality of life. We report two cases with clinical diagnosis and histopathological confirmation, presenting perifollicular xanthomatosis on histological examination, recently described as a distinctive, consistent, and specific feature of this disease. Read More

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September 2018
11 Reads

Apolipoprotein E Deficiency Increases Remnant Lipoproteins and Accelerates Progressive Atherosclerosis, But Not Xanthoma Formation, in Gene-Modified Minipigs.

JACC Basic Transl Sci 2017 Oct 30;2(5):591-600. Epub 2017 Oct 30.

Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Deficiency of apolipoprotein E (APOE) causes familial dysbetalipoproteinemia in humans resulting in a higher risk of atherosclerotic disease. In mice, APOE deficiency results in a severe atherosclerosis phenotype, but it is unknown to what extent this is unique to mice. In this study, was targeted in Yucatan minipigs. Read More

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October 2017
3 Reads

Movement disorders in cerebrotendinous xanthomatosis.

Parkinsonism Relat Disord 2018 Jul 19. Epub 2018 Jul 19.

Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands. Electronic address:

Cerebrotendinous xanthomatosis (CTX) is an inborn error of cholesterol and bile acid metabolism, leading to neuropsychiatric and systemic manifestations. Movement disorders have rarely been reported in CTX, while a detailed appreciation of the full phenotypic spectrum is required in order to prevent underdiagnosis of this disease. This review focuses on the frequency of more unusual, non-ataxia and non-spasticity movement disorders reported in CTX. Read More

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July 2018
1 Read

Rare diseases of bone: Erdheim-Chester and Rosai-Dorfman non-Langerhans cell histiocytoses.

EFORT Open Rev 2018 Jun 23;3(6):381-390. Epub 2018 Jun 23.

Second Department of Internal Medicine, Hematology Unit, National and Kapodistrian University of Athens, School of Medicine, Greece.

Non-Langerhans cell histiocytosis (N-LCH) summarizes a group of rare diseases with different clinical presentations, pathogenesis and morphology. These include primary cutaneous N-LCH, cutaneous N-LCH with systemic involvement, and primary extracutaneous systemic forms with occasional cutaneous involvement.The juvenile (JXG) and non-juvenile xanthogranuloma (N-JXG) family of histiocytoses are N-LCH: the JXG family consisting of the JXG (cutaneous), xanthoma disseminatum (cutaneous and systemic) and Erdheim-Chester disease (ECD; systemic); and the N-JXG family consisting of the solitary reticulohistiocytoma (cutaneous), multicentric reticulohistiocytosis (cutaneous and systemic) and Rosai-Dorfman disease (RDD; systemic). Read More

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June 2018
3 Reads

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.

J Clin Lipidol 2018 Sep - Oct;12(5):1169-1178. Epub 2018 Jun 22.

Boston Heart Diagnostics, Framingham, MA, USA; Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University, Boston, MA, USA; The Dyslipidemia Foundation, Natick, MA, USA. Electronic address:

Background: Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to defective sterol 27-hydroxylase causing a lack of chenodeoxycholic acid (CDCA) production and high plasma cholestanol levels.

Objectives: Our objective was to review the diagnosis and treatment results in 43 CTX cases.

Methods: We conducted a careful review of the diagnosis, laboratory values, treatment, and clinical course in 43 CTX cases. Read More

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June 2018
8 Reads

Reconstruction of the Achilles tendon using quadriceps tendon graft in bilateral xanthomas secondary to familial hypercholesterolemia: A case report.

Eklem Hastalik Cerrahisi 2018 Aug;29(2):117-22

Department of Orthopedics and Traumatology, Metin Sabancı Baltalimanı Bone and Joint Diseases Training and Research Hospital, 34470 Sarıyer, İstanbul, Turkey.

Achilles tendon xanthomas are rarely seen masses that are highly associated with hyperlipidemia. They are manifested in two types: Xanthomas developed secondary to familial hypercholesterolemia and cerebrotendinous xanthomatoses. In this report, we present a case of bilateral Achilles tendon xanthoma secondary to familial hypercholesterolemia and resection along with a portion of the Achilles tendon. Read More

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August 2018
3 Reads

Corneal infiltration and xanthoma formation in mycosis fungoides.

Am J Ophthalmol Case Rep 2018 Sep 20;11:95-97. Epub 2018 Jun 20.

Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan.

Purpose: To report a case of corneal infiltration and xanthoma formation in mycosis fungoides (cutaneous T-cell lymphoma).

Observations: A middle aged Japanese man with mycosis fungoides (MF) involving the face was referred to Ophthalmology for evaluation of unilateral, painless conjunctival injection. Biopsy of the conjunctiva revealed a malignant T cell population consistent with MF tumor invasion. Read More

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September 2018
2 Reads

Cerebrotendinous xanthomatosis: The diagnostic challenge.

Med Clin (Barc) 2018 Jul 3. Epub 2018 Jul 3.

Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia. Electronic address:

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July 2018
9 Reads

A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.

Tremor Other Hyperkinet Mov (N Y) 2018 17;8:538. Epub 2018 May 17.

Movement Disorders Section and Neurology Department, Raúl Carrea Institute for Neurological Research (FLENI), Buenos Aires, Argentina.

Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms.

Case Report: An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts.

Discussion: The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts. Read More

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November 2018
5 Reads

Identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in human cerebrospinal fluid and plasma.

Biochimie 2018 Oct 28;153:86-98. Epub 2018 Jun 28.

Institute of Life Science, Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, UK. Electronic address:

Dihydroxyoxocholestenoic acids are intermediates in bile acid biosynthesis. Here, using liquid chromatography - mass spectrometry, we confirm the identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in cerebrospinal fluid (CSF) based on comparisons to authentic standards and of 7α,12α-dihydroxy-3-oxocholest-4-en-26-oic and 7α,x-dihydroxy-3-oxocholest-4-en-26-oic (where hydroxylation is likely on C-22 or C-23) based on exact mass measurement and multistage fragmentation. Surprisingly, patients suffering from the inborn error of metabolism cerebrotendinous xanthomatosis, where the enzyme CYP27A1, which normally introduces the (25 R)26-carboxylic acid group to the sterol side-chain, is defective still synthesise 7α,24-dihydroxy-3-oxocholest-4-en-26-oic acid and also both 25 R- and 25 S-epimers of 7α,12α-dihydroxy-3-oxocholest-4-en-26-oic acid. Read More

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October 2018
7 Reads

Co-occurrence of heterozygous CREB3L3 and APOA5 nonsense variants and polygenic risk in a patient with severe hypertriglyceridemia exacerbated by estrogen administration.

J Clin Lipidol 2018 Sep - Oct;12(5):1146-1150. Epub 2018 Jun 1.

Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

We describe a case of a 36-year-old woman with severe hypertriglyceridemia likely caused by double heterozygosity of a known pathogenic APOA5 nonsense variant (p.Q275X) and a novel CREB3L3 nonsense variant (p.C296X) on a background of very strong polygenic susceptibility. Read More

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Sustained clinical response after single course of rituximab as first-line monotherapy in adult-onset asthma and periocular xanthogranulomas syndrome associated with IgG4-related disease: A case report.

Medicine (Baltimore) 2018 Jun;97(26):e11143

Clinica Medica.

Rationale: IgG4-related disease (IgG4-RD) is an emerging immune-mediated disease characterized by multi-organ involvement and variable clinical behavior.

Patient Concerns: We describe the case of a 50-year-old woman affected by a rare variant of IgG4-RD, characterized by eyelid xanthelasmas, adult-onset asthma and salivary and lacrimal glands enlargement. Multiple lymphadenopathies and a pulmonary mass were present at initial evaluation. Read More

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June 2018
13 Reads

Xanthoma disseminatum with rare extensive lesions.

Eur J Dermatol 2018 Aug;28(4):543-545

Department of dermatology, Chinese Academy of Medical Sciences and Peking Union Medical Colleges, 12 jiangwangmiao Street, 210042 Nanjing, China.

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August 2018
7 Reads

Network-based association analysis to infer new disease-gene relationships using large-scale protein interactions.

PLoS One 2018 27;13(6):e0199435. Epub 2018 Jun 27.

Advanced Virtual and Intelligent Computing (AVIC) Center, Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.

Protein-protein interactions integrated with disease-gene associations represent important information for revealing protein functions under disease conditions to improve the prevention, diagnosis, and treatment of complex diseases. Although several studies have attempted to identify disease-gene associations, the number of possible disease-gene associations is very small. High-throughput technologies have been established experimentally to identify the association between genes and diseases. Read More

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June 2018
8 Reads

Oral verruciform xanthoma: Report of 13 new cases and review of the literature.

Med Oral Patol Oral Cir Bucal 2018 Jul 1;23(4):e429-e435. Epub 2018 Jul 1.

Department of Oral Medicine and Oral Pathology, School of Dentistry, National and Kapodistrian University of Athens, Greece, 2 Thivon Str, 11527, Goudi, Athens, Greece,

Background: Oral verruciform xanthoma (OVX) is a rare lesion. The purpose of the present study is to describe the clinical features of 13 OVXs and review all cases reported in the English literature.

Material And Methods: Thirteen cases of OVX diagnosed during a 47-year period were retrospectively collected. Read More

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July 2018
1 Read

Severe hypertriglyceridemia presenting as eruptive xanthomatosis.

J Family Med Prim Care 2018 Jan-Feb;7(1):267-270

Department of Internal Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA.

Eruptive xanthomatosis is described as the sudden eruption of erythematous yellow papules in the presence of hypertriglyceridemia, often associated with serum triglyceride levels above 2000 mg/dl. Severe hypertriglyceridemia can be caused by primary genetic mutations, secondary chronic diseases, or a combination of both. Uncontrolled diabetes mellitus is a known risk factor. Read More

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June 2018
12 Reads

Laboratory investigations.

Handb Clin Neurol 2018 ;154:287-298

Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland; Departments of Neurology and Ophthalmology, University Hospital Zurich, University of Zurich, Switzerland.

This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, other vitamin deficiencies, and endocrine disorders should also be kept in mind. Read More

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September 2018
6 Reads

[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].

Zhonghua Er Ke Za Zhi 2018 Jun;56(6):435-439

Department of Pediatric Endocrinology/Genetics, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.

To investigate clinical, molecular genetic characteristics, and treatment outcomes of 3 children with sitosterolemia. Three cases of children presented with multiple xanthomas during June 2016 to June 2017 were included. The clinical manifestations, laboratory examinations and follow-up data were retrospectively analyzed. Read More

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June 2018
7 Reads

MECHANISMS IN ENDOCRINOLOGY: Hypophysitis: diagnosis and treatment.

Eur J Endocrinol 2018 Sep 7;179(3):R151-R163. Epub 2018 Jun 7.

Department of EndocrinologyGuy's & St. Thomas' NHS Foundation Trust, London, UK

Hypophysitis is a rare condition characterised by inflammation of the pituitary gland, usually resulting in hypopituitarism and pituitary enlargement. Pituitary inflammation can occur as a primary hypophysitis (most commonly lymphocytic, granulomatous or xanthomatous disease) or as secondary hypophysitis (as a result of systemic diseases, immunotherapy or alternative sella-based pathologies). Hypophysitis can be classified using anatomical, histopathological and aetiological criteria. Read More

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September 2018
1 Read

Naturopathic Self-Treatment of an Atypical Fibroxanthoma: Lessons for Dermatologic Surgery.

J Drugs Dermatol 2018 Jun;17(6):683-685

Background: Alternative therapies are favored by some patients. In skin cancer, this may be to try to avoid surgery out of fear for the procedure and its functional or cosmetic consequences. Frequently, use of these therapies is not curative and can cause harm. Read More

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June 2018
2 Reads

Crystal-storing Histiocytosis in the Stomach: A Clue to Subtle Hematolymphoid Malignancies.

Am J Surg Pathol 2018 Oct;42(10):1317-1324

Department of Pathology.

Crystal-storing histiocytosis (CSH) is an under-recognized entity with a striking association with lymphoproliferative disorders. To study the typical morphologic features of gastric CSH, all lymphomas diagnosed on in-house gastric specimens at The Ohio State University between January 1, 2008 and January 1, 2017 were retrieved. This search yielded 66 specimens from 51 unique patients. Read More

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October 2018
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