Xantelasma palpebral: tratamento cirúrgico como primeira escolha / Eyelid Xanthelasma: surgical treatment as the first choice

Introdução: O xantelasma palpebral é a forma mais comum de xantoma cutâneo, caracterizado por placas amareladas localizadas na pele das pálpebras. Apesar de ser uma condição benigna e não cursar com limitação funcional, é uma importante queixa estética que tem impacto na vida social e emocional do portador. Existem opções terapêuticas clínicas, mas a abordagem mais difundida é a cirúrgica com excisão das lesões, procedimento simples, com poucas complicações e menores taxas de recidivas locais. O objetivo deste estudo é descrever o tratamento cirúrgico do xantelasma palpebral, avaliar a satisfação dos pacientes no pós-operatório e as taxas de recidivas pós-cirúrgicas. Métodos: Trata-se de um estudo retrospectivo realizado com uma amostra de 25 pacientes submetidos a tratamento cirúrgico de xantelasmas palpebrais. O acompanhamento pós-operatório foi realizado em intervalos de 7 dias, 30 dias, 90 dias e 12 meses com entrevista, exame físico e aplicação de questionário que contemplaram identificação de recidivas locais, complicações pós-operatórias e satisfação com o resultado estético. Resultados: Quatro pacientes evoluíram com recidiva local e apenas dois pacientes manifestaram insatisfação com o resultado estético após o desfecho final. Em nenhum paciente submetido a ressecção cirúrgica das lesões associadas à autoenxertia foi observada recorrência ou insatisfação com o resultado estético. Conclusões: O tratamento cirúrgico como primeira opção na abordagem terapêutica dos xantelasmas palpebrais deve ser considerado, visto o impacto estético e psicológico de tal afecção. É uma técnica simples, de fácil aplicação e reprodutibilidade, eficaz, segura, com relevantes taxas de satisfação e baixa ocorrência de recidivas.

Introduction: Eyelid xanthelasma is the most common form of cutaneous xanthoma, characterized by yellowish patches on the eyelid's skin. Despite being a benign condition and not presenting with functional limitations, it is an important aesthetic complaint that impacts the patient's social and emotional life. There are clinical therapeutic options, but the most widespread approach is the surgical approach with excision of the lesions, a simple procedure with few complications and lower local recurrence rates. This study aims to describe the surgical treatment of palpebral xanthelasma, to assess postoperative patient satisfaction and post-surgical recurrence rates. Methods: This is a retrospective study with a sample of 25 patients undergoing surgical treatment of eyelid xanthelasmas. Postoperative follow-up was performed at intervals of 7 days, 30 days, 90 days and 12 months with an interview, physical examination and application of a questionnaire that included the identification of local recurrences, postoperative complications and satisfaction with the aesthetic result. Results: Four patients evolved with local recurrence, and only two expressed dissatisfaction with the aesthetic result after the outcome. No patient who underwent surgical resection of lesions associated with autograft recurrence or dissatisfaction with the aesthetic result was observed. Conclusions: Surgical treatment as the first option in the therapeutic approach of eyelid xanthelasmas should be considered, given the aesthetic and psychological impact of such a condition. It is a simple technique, easy to apply and reproducible, effective, and safe, with relevant satisfaction rates and low recurrences.

Absceso hepático por colecistitis xantogranulomatosa y adenomiomatosis vesicular: reporte de un caso

La colecistitis xantogranulomatosa (CXG) y la adenomiomatosis (AV) son infrecuentes, con escasos reportes en nuestro medio. La diferenciación preoperatoria e intraoperatoria es difícil, porque presenta características radiológicas y macroscópicas similares al cáncer. Frecuentemente se presenta como una colecistitis aguda. Y el diagnóstico se establece por la presencia de fibrosis, histiocitos espumosos, y de los senos de Rokitansky-Aschoff, respectivamente. Presentamos el caso de una mujer que acudió por dolor abdominal, náuseas y vómitos. La tomografía reveló una colección hepática subcapsular. Se interviene quirúrgicamente y se evidencia absceso hepático bloqueado por epiplón, con múltiples adherencias; y vesícula de paredes engrosadas perforada en bacinete. La paciente recibe antibioticoterapia, cursa con buena evolución, y la histopatología concluye una CXG y AV. La CXG y la AV son enfermedades raras, asociadas a colelitiasis. En nuestro caso, su asociación y su complicación con absceso hepático hacen que sea particularmente excepcional. Requiriendo ambas, cirugía e histopatología para confirmarlas.

Xanthogranulomatous cholecystitis (CXG) and Adenomyomatosis (VA) are rare, with few reports in our setting. The preoperative and intraoperative differentiation is difficult because it presents radiological and macroscopic characteristics, similar to cancer. It often presents as acute cholecystitis. And the diagnosis is established by the presence of fibrosis, foamy histiocytes, and Rokitansky-Aschoff sinuses, respectively. We present the case of a woman who came in for abdominal pain, nausea and vomiting. The tomography revealed a subcapsular liver collection. Surgery was performed and a hepatic abscess blocked by the omentum was evidenced, with multiple adhesions; and thickened-walled vesicle perforated in bacinete. Patient receives antibiotic therapy, progresses well, and histopathology concludes CXG and VA. CXG and VA are rare diseases associated with cholelithiasis. In our case, its association, and its complication with liver abscess, make it particularly exceptional. Requiring both surgery and histopathology to confirm them.

Xantoma del hueso temporal. A propósito de n caso

Se presenta el caso de una mujer de 53 años de edad, quien presentó por un año tinnitus de frecuencia mixta en el oído izquierdo y abruptamente desarrollo cuadro de sordera súbita ipsilateral. Recibió tratamiento con corticoides por vía oral, además de infiltraciones intratimpánicas. En las evaluaciones por imágenes de tomografía y resonancia magnética con contraste, se detecta tumoración sólida de bordes bien definidos a nivel de la unión entre la porción petrosa y escamosa del hueso temporal izquierdo. Para definir el diagnóstico se realizó exéresis de la lesión por mastoidectomía a demanda; el estudio anátomo-patológico reveló xantoma de hueso temporal. Debido a que el lugar de presentación es inusual se reporta el caso y se realiza una revisión del tema.

SUMMARY We present the case of a 53-year-old female patient who presented with one-year history of mixed frequency tinnitus of the left ear and sudden development of unilateral deafness. She received treatment with oral steroids plus intratympanic infiltrations. Imaging studies using CT-Scan and MRI disclosed a solid tumor of well-defined borders in the union of the petrosal and squamous portions of the left temporal bone. A mastoidectomy was performed, the anatomopathological studies revealed a xanthoma of the temporal bone. A literature review was performed.

Three cases of cerebraltendinous xanthomatosis caused by compound heterozygous mutation of CYP27A1 gene / 中华神经科杂志

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disease caused by mutation of CYP27A1 gene. This article reported three cases with clinical phenotypes of CTX and CYP27A1 gene mutation and analyzed the pedigree with a literature review. All the three CTX cases had c.379C>T (p.Arg127Trp) missense mutation on exon 2 of CYP27A1 gene. They all had compound heterozygous mutation and two cases had new type of exon and intron compound mutation. This article enriched the types of CYP27A1 gene mutations in CTX patients. The primers of CYP27A1 gene should also cover more gene sequences including intron regions.

Necrobiotic Xanthogranuloma Coexists with Diffuse Normolipidemic Plane Xanthoma and Multiple Myeloma

Xantoma del tendón de aquiles bilateral: debut de xantomatosis cerebrotendinosa / Bilateral achilles tendon xanthoma: cerebrotendinous xanthomatosis debut

OBJETIVO Presentación de un inusual caso de xantomatosis cerebrotendinosa en un paciente de edad cuya primera manifestación fueron xantomas bilaterales del tendón de Aquiles. MATERIAL Y MÉTODOS Mujer de 62 años, que presenta tumoraciones, que presenta tumoraciones sólidas y polilobuladas, en la cara posterior de ambos tendones de Aquiles de 8 años de evolución. El diagnóstico se realizó mediante el hallazgo de hiperlipidemia y estudio genético. Se realió la exóresis quirúrgica parcial de las tumoraciones. RESULTADOS A los 5 años de la cirugía del pie izquierdo y 4 años del pie derecho la paciente estaba asintomática. Presentaba una fuerza para la flexión plantar bilateral de 5/5, pudiendo caminar y subir escaleras sin molestias. Presentaba una escala AOFAS de 85 y 90 puntos en el pie izquierdo y derecho, respectivamente. No hubo recidivas. DISCUSIÓN Los xantomas son depósitos de colesterol en el tejido conectivo de la piel, tendones o fascia, como resultado de una hiperlipoproteinemia. La importancia del caso radica en su sospecha diagnóstica, ya que la xantomatosis cerebrotendinosa suele manifestarse en pacientes de menos de 30 años de edad y en los que se ha recomendado la resección radical de las tumoraciones, e incluso del tendón, debido a las frecuentes recidivas. CONCLUSIÓN En pacientes de mayor edad con lesiones que infiltran el tendón, se puede optar por un tratamiento menos agresivo con un buen resultado clínico.

OBJETIVE Presentation of an unusual case of cerebrotendinous xanthomatosis in an elderly patient whose first manifestation was bilateral Achilles tendon xanthomas. MATERIAL AND METHODS 62-year-old woman presenting solid and polylobed tumors on the posterior aspect of both Achilles tendons for eight years. The diagnosis was made by means of hyperlipidemia and a genetic study. Surgical partial excision of the tumors was performed. RESULTS Five years after surgery on the left foot and four years after the right foot, the patient was asymptomatic. Bilateral plantar flexion force was 5/5, The patient was able to walk and climb stairs without discomfort. AOFAS score was 85 and 90 on the left and right feet, respectively. There were no recurrences. DISCUSSION Xanthomatosis is a genetic alteration with deposits of cholesterol in connective tissue of the skin, tendons or fascia, because of hyperlipoproteinemia. The importance of the present case lies in its diagnostic suspicion, since cerebrotendinous xanthomatosis manifests usually in patients under 30 years of age and in whom radical resection of tumors, and even of the tendon, has been recommended due to frequent recurrences . CONCLUSION In older patients with tumors that infiltrate the tendon, a less aggressive treatment can be chosen with a good clinical result.

Análise do tratamento cirúrgico dos xantelasmas palpebrais: experiência de um serviço de Cirurgia Plástica / Analysis of surgical treatment of eyelid xanthelasmas: experience of a Plastic Surgery service

Introdução: Xantelasmas são placas amareladas benignas que acometem pele de pálpebras e cursam com limitação funcional e queixa estética, impactando vida social e emocional. Com prevalência de 1,4% na população geral, predominam no sexo feminino e associam-se a hiperlipidemias, formados por deposições dérmicas de colesterol. De diagnóstico clínico, está indicada histopatologia em casos duvidosos. O tratamento de escolha é cirúrgico, através de exérese simples ou associada a blefaroplastia, epicantoplastia medial, retalhos locais e enxertos de pele total. Outras opções são terapia a laser, cauterização química com ácido tricloroacético, radiofrequência e crioterapia. Apesar da variedade terapêutica disponível, ainda são descritas na literatura taxas de recidiva local de até 40%. Objetivo: Analisar taxas de recidiva local associadas à ressecção cirúrgica enquanto tratamento de escolha para os xantelasmas. Métodos: Trata-se de estudo observacional retrospectivo, em que foram analisados prontuários de 18 pacientes submetidos à ressecção cirúrgica de xantelasmas pelo serviço de Cirurgia Plástica do Hospital Universitário da UFJF nos anos de 2016 a 2018. Foram avaliadas localização das lesões e taxas de recidiva local. Resultados: A localização das lesões mostrou-se predominante em pálpebras superiores, acometendo 10 pacientes (55%), sem predileção por lateralidade. Evoluíram com recidiva local 4 pacientes (22%). Conclusão: Os resultados do presente trabalho corroboram a hipótese de que taxas de recidiva local são menores em casos submetidos a tratamento cirúrgico, quando comparadas às descritas na literatura, bem como maior satisfação dos pacientes com os resultados estéticos apresentados. Conclui-se que a ressecção cirúrgica é segura e satisfatória em relação às demais terapêuticas. (AU)

Introduction: Xanthelasmas are benign yellowish plaques that affect the eyelid skin and cause functional limitation and aesthetic complaint, impacting social and emotional life. With a prevalence of 1.4% in the general population, they predominate in females and are associated with hyperlipidemias, formed by dermal cholesterol depositions. Clinically diagnosed, histopathology is indicated in doubtful cases. The treatment of choice is surgical, through simple or associated excision of blepharoplasty, medial epicantoplasty, local flaps and total skin grafts. Other options are laser therapy, trichloroacetic acid chemical cauterization, radiofrequency and cryotherapy. Despite the available therapeutic variety, local recurrence rates of up to 40% are still described in the literature. Objective: To analyze local recurrence rates associated with surgical resection as the treatment of choice for xanthelasmas. Methods: This was a retrospective observational study, which analyzed the medical records of 18 patients who underwent surgical resection of xanthelasmas by the Plastic Surgery Service of the University Hospital of UFJF from 2016 to 2018. We evaluated lesion location and recurrence rates. Results: The location of the lesions was predominant in the upper eyelids, affecting 10 patients (55%), with no preference for laterality. Four patients (22%) evolved with local recurrence. Conclusion: The results of the present study corroborate the hypothesis that local recurrence rates are lower in cases submitted to surgical treatment when compared to those described in the literature, as well as greater patient satisfaction with the aesthetic results presented. It is concluded that surgical resection is safe and satisfactory in relation to other therapies. (AU)

Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias / Prevalência de disfagia orofaríngea nas paraparesias espásticas hereditárias

ABSTRACT Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to significant respiratory and nutritional complications. Objectives: The aim of this study was to evaluate the frequency and clinical characteristics of dysphagia in different types of HSP. Methods: A two-center cross-sectional prevalence study was performed. Genetically confirmed HSP patients were evaluated using the Northwestern Dysphagia Patient Check Sheet and the Functional Oral Intake Scale. In addition, self-perception of dysphagia was assessed by the Eat Assessment Tool-10 and the Swallowing Disturbance Questionnaire. Results: Thirty-six patients with spastic paraplegia type 4 (SPG4), five with SPG11, four with SPG5, four with cerebrotendinous xanthomatosis (CTX), three with SPG7, and two with SPG3A were evaluated. Mild to moderate oropharyngeal dysphagia was present in 3/5 (60%) of SPG11 and 2/4 (50%) of CTX patients. A single SPG4 (2%) and a single SPG7 (33%) patient had mild oropharyngeal dysphagia. All other evaluated patients presented with normal or functional swallowing. Conclusions: Clinically significant oropharyngeal dysphagia was only present in complicated forms of HSP Patients with SPG11 and CTX had the highest risks for dysphagia, suggesting that surveillance of swallowing function should be part of the management of patients with these disorders.

RESUMO As paraparesias espásticas hereditárias (PEH) são um grupo de doenças genéticas caracterizado por espasticidade dos membros inferiores com ou sem características neurológicas adicionais. A disfunção da deglutição é pouco estudada nas PEH e sua presença pode levar a complicações respiratórias e nutricionais significativas. Objetivo: O objetivo deste estudo foi avaliar a frequência e a caracterização clínica da disfagia em diferentes tipos de PEH. Métodos: Foi realizado um estudo transversal em dois centros. Os pacientes com PEH confirmados geneticamente foram avaliados pelo Northwestern Dysphagia Patient Check Sheet e pela Escala Funcional de Ingestão Oral. Além disso, a autopercepção da disfagia foi avaliada pelo Eat Assessment Tool-10 e pelo Swallowing Disturbance Questionnaire. Resultados: Trinta e seis pacientes com paraplegia espástica tipo 4 (SPG4), cinco com SPG11, quatro com SPG5, quatro com xantomatose cerebrotendinosa (CTX), três com SPG7 e dois com SPG3A foram avaliados. Disfagia orofaríngea leve a moderada estava presente em 3/5 (60%) dos pacientes com SPG11 e 2/4 (50%) dos pacientes com CTX. Um único SPG4 (2%) e um único SPG7 (33%) apresentaram disfagia orofaríngea leve. Todos os outros pacientes avaliados apresentaram deglutição normal ou funcional. Conclusão: Disfagia orofaríngea clinicamente significativa estava presente apenas nas formas complicadas de PEH. A SPG11 e CTX apresentaram maiores riscos de disfagia, sugerindo que a avaliação da deglutição deve fazer parte do manejo dos pacientes com essas condições.

Xantomatosis cerebrotendinosa sin xantomas tendíneos: caso clínico / Cerebrotendinous xanthomatosis: report of one case

Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by deficiency of 27-sterol-hydroxylase that results in an accumulation of cholestanol in the central nervous system, eyes, tendons, and blood vessels. We report a 22-year-old woman with a history of cataract surgery at the age of 14, cholecystectomy due to cholelithiasis at the age of 17 and chronic diarrhea, who presented with a six months period of gait instability and frequent falls. Physical examination revealed a bilateral pyramidal and cerebellar syndrome, with no visible tendon xanthomas. Cerebral magnetic resonance imaging showed an increase of the signal intensity on the T2-weighted images in periventricular cerebral white matter, dentate nuclei and spinal cord. With a high suspicion of CXT, a genetic study was conducted identifying a pathogenic variant in the CYP27A1 gene. There is considerable variation in clinical characteristics and age of onset of this disease, including absence of tendon xanthomas, delaying the diagnosis. Early recognition and chronic chenodeoxycholic acid therapy can improve outcome and quality of life.

Xantomatosis cerebrotendinosa: Reporte de un caso en el Perú: Evaluación clínica integral y estudios de neuroimágenes / Cerebrotendinous Xanthomatosis: Report of a case in Peru: Comprehensive clinical evaluation and neuroimaging studies

Se presenta el caso de una paciente de 73 años de edad que, a los 30 años aproximadamente, comenzó a quejarse de dolor al caminar, localizando la molestia a nivel de las regiones aquilianas, con subsecuente aumento de volumen; al paso del tiempo, estas molestias la obligaron a efectuar consulta médica. Los análisis de laboratorio mostraron severa dislipidemia mixta. Al lado de información de significativa declinación cognitiva, provista por familiares (vgr., (i.e., olvidos frecuentes, desorientación, atención disminuida, concentración pobre), hubo evidencia de ánimo fluctuante, labilidad emocional, crisis ansiosas evolucionando hacia ataques de pánico. El test minicognitivo de Folstein, mostró severo estado demencial y en el examen neurológico se constataron ataxia cerebelosa y signos de piramidalismo parcial. El examen oftalmológico puso en evidencia xantelasmas, cataratas y un denso arco senil. El estudio del cerebro con resonancia magnética (RM) mostró el daño encefálico y signos sugestivos de depósitos del colastenol en el SNC. La presencia de xantomas , los hallazgos oftalmológicos, la demencia definidamente progresiva y la ataxia cerebelosa fueron hallazgos clínicos que permitieron establecer el diagnóstico de xantomatosis cerebrotendinosa.

The case of a 73 years-old woman that, since approximately the age of 30 years started to complain of pain when walking, is presented. The symptom was mainly located in the acchillean regions which, as time advanced, showed gradual volume increase and, finally, forced her to seek medical evaluation. Accompanying relatives reported a several years’ history of gradually increasing cognitive difficulties (i.e., forgetfulness, disorientation, poor attention and concentration), fluctuating mood (from periods of good humor switching to sudden episodes of sadness and crying spells), emotional lability and anxiety crises evolving into brief panic attacks. The Mini-cognitive Fenton Test confirmed severe dementia and the neurological evaluation showed cerebellar ataxia and partial pyramidalism. The ophthalmological examination revealed xanthelasmas, cataracts and dense arcus senilis. Xanthomas were detected in the Achillean tendons of both lower extremities. Auxiliary laboratory and densitometric tests demonstrated mixed dyslipidemia and dorsal-lumbar osteoporosis, respectively, and magnetic resonance imaging of the brain (RMC) confirmed SNC damage and suggested deposits of cholestenol, thus confirming the diagnosis of Cerebroitendinous Xanthomatosis.

Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa / Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis

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. Material and Methods: Clinical information was collected from 387 patients diagnosed with CTX, published in MEDLINE between 1968 and 2016. Clinical manifestations were identified, determining their prevalence and age of onset. Sensitivity, specificity and the positive Likelihood ratio (LR+) was calculated for each clinical sign evaluated. Results: The average ages for early symptoms' onset and CTX diagnosis were 13.3 ± 10.6 years and 34.6 ± 12.6 years respectively. The early clinical signs and their respective LR+ were: juvenile cataracts (143), epilepsy (81), chronic diarrhea (15.6) and psychomotor development delay (3.4). The presence of consanguinity among parents resulted in a LR+ of 31. The combination of two early signs increased the post-test probability to 30%. If the early diagnostic criteria would have been applied in three Chilean patients with diagnosis of CTX, their disease would have been diagnosed from 12 to 25 years earlier. Conclusions: The use of a hierarchical system of predictive clinical signs allows an early screening of CTX, which may avoid the natural progression of the disease using an appropriate treatment.

Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia / 中华儿科杂志

Objective@#To investigate clinical, molecular genetic characteristics, and treatment outcomes of 3 children with sitosterolemia.@*Methods@#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. DNA was extracted from peripheral blood and analyzed with whole exome sequencing(WES). All the detected variants were confirmed by Sanger sequencing. Plasma plant sterol concentrations were measured by gas chromatography-mass spectrometry.@*Results@#Three cases of children including 1 boy and 2 girls presented with multiple linear and intertriginous xanthomas around skin of the joint areas at the age from 15 months to 6 years and 2 months. Total cholesterol of the 3 cases was elevated to 14.45, 15.47 and 15.85 mmol/L (3.36-6.46), and low density lipoprotein cholesterol was 9.02, 13.54 and 12.47 mmol/L (< 3.36) respectively. Genetic analysis with WES revealed that 2 cases carried compound heterozygous variants in ABCG5 gene, 1 case carried compound heterozygous variants in ABCG8 gene. Two reported variants (p. N437K, p.R446X) and one novel variant (p.Q251X) of ABCG5 were identified in case 2 and 3. Two novel ABCG8 variants (p.R263Q, c.1528_1530delATC) were found in case 1. All these children had extremely high plasma plant sterol levels, thus the diagnosis of sitosterolemia was confirming. The campesterol level was 111.35, 102.86 and 58.91 μmol/L(0.01-10.00), the stigmasterol was 14.97, 29.43 and 17.79 μmol/L (0.10-8.50) and the sitosterol was 231.20, 177.66 and 114.20 μmol/L (1.00-15.00) respectively. The total serum cholesterol levels of three children decreased to nomal after the patients were placed on the low plant sterol/low cholesterol diet. The xanthomas regressed gradually, and almost disappeared after 8 months of treatment in case 1 and 3.@*Conclusions@#Children with sitosterolemia presented with skin xanthomas around the joint areas. The level of total cholesterol, low density lipoprotein cholesterol and plant sterols increased obviously. One novel variant (p.Q251X) of ABCG5 and 2 novel variants (p.R263Q, c.1528_1530delATC) of ABCG8 were identified. Children with sitosterolemia responded well to a low plant sterols/low cholesterol diet.

A case of intramuscular xanthelasma palpebrarum found during blepharoplasty

Xanthelasma palpebrarum is the most common cutaneous xanthoma found on the medial side of the eyelid. The typical lesion is usually a flat and yellowish plaque on the skin. However, we report on a unique case of intramuscular xanthoma found during blepharoplasty for the correction of ptosis. A 53-year-old male patient visited our department with a complaint of a ptotic eyelid. He was concerned about the cosmetic appearance and the uncomfortable feeling while opening his eyes, and wanted these problems to be solved. A yellowish plaque of about 0.3 × 0.3 cm in size was found in the orbicularis oculi muscle during the surgery. The lesion was excised and xanthelasma was confirmed with biopsy. We have found this specific case of xanthelasma palpebrarum in the only muscle. Therefore, a careful approach to clinical and histologic examination and imaging is required for patients with these lesions.

Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report

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. Sonographic examination revealed hypoechoic, swollen peripheral nerves with enlarged bilateral Achilles tendons. Since the ultrasonographic findings revealed peripheral involvement, the diagnosis of cerebrotendinous xanthomatosis was established after laboratory and genetic studies along with clinical findings.

Serum lipid profile and clinical characteristics of patients with xanthelasma palpebrarum

Abstract: Background: Although many factors are involved in the etiology of xanthelasma palpebrum, lipid disorder is strongly associated with its induction. Xanthelasma palpebrum, the most common type of xanthoma, usually presents in middle-aged females and results in aesthetic problems. Objective: To evaluate thelipid profile and important clinical aspects of xanthelasma palpebrum patients. Methods: In this descriptive study, we enrolled 42xanthelasma palpebrumpatients, and 42 cases of non-inflammatory skin disorders as thecontrol group, matched for age and gender.The clinical characteristics of the patients and fasting serum lipid profile were recorded for both groups. The data obtained were analyzed using SPSS-16. Results: Xanthelasma palpebrum was found more commonly in middle-aged females with disease onset of less than 1 year, and without significant familial history of xanthoma. Furthermore,xanthelasma lesionswere most often seen in the upper lid with mild extension and was rarely associated with systemic disease. There was no statistically significant difference between two groups regarding hypertriglyceridemia (p= 0.231) and hypercholesterolemia (p= 0.302). The mean serum levels of cholesterol (221.51±60.4 mg/dl), triglyceride (185.98±71.1 mg/dl) and VLDL (37.7±17.6 mg/dl) were significantly higher and themedian HDL (36.2 (31, 41) mg/dl) level was lower in thepatient group. Conclusion: In our study, hypercholesterolemia and hypertriglyceridemia did not reveal a significant difference between thepatient and control groups; however, mean serum values for cholesterol, triglyceride, VLDL and HDL showed a significant difference between the two groups. Therefore, in addition to lipid abnormality, other factors could be involved in the pathogenesis of xanthelasma palpebrum.

Verruciform xanthoma: case report / Xantoma verruciforme: relato de caso clínico

ABSTRACT Verruciform xanthoma is a rare, benign lesion, with a papillary aspect, asymptomatic, sessile, white colored, and well-demarcated, that occurs in the gingiva and alveolar mucosa. The histopathological aspect is characterized by the presence of macrophages with foam cytoplasm (xanthoma cells) confined to the soft papillary tissue. The etiology and pathogenic mechanisms are unknown, although some hypothesis, such as local trauma or viral origin have been suggested. The aim of this article was report a clinical case of verruciform xanthoma located in the gingiva showing the clinical and histopathological aspects.

RESUMO O xantoma verruciforme é uma lesão muito rara, benigna, com aspecto papilar, indolor, séssil, localizada, principalmente, na gengiva e mucosa alveolar, podendo ocorrer na pele e genitália. O grau de queratinização da superfície influencia na cor, variando de branca a vermelha. Histopatologicamente é caracterizado pela presença de macrófagos com citoplasma espumoso (células de xantoma) acumulados e confinados ao tecido conjuntivo papilar. Criptas invaginadas alternam-se com extensões papilares. As cristas epiteliais alongadas estendem-se para a lâmina própria em profundidade uniforme. Sua etiologia e patogênese são desconhecidas, apesar de várias hipóteses terem sido sugeridas, como trauma local ou viral. O diagnóstico diferencial pode incluir o papiloma escamoso, o carcinoma escamoso papilar e o condiloma acuminado. O tratamento é a excisão conservadora e o prognóstico é excelente. O objetivo deste trabalho foi relatar um caso clínico de xantoma verruciforme localizado na gengiva inserida mostrando seu aspecto clínico e histopatológico.

Verruciform xanthoma in the hard palate: a case report and literature review

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. Excisional biopsy revealed oral mucosa consisting of hyperkeratosis, acanthosis, and elongated rete pegs. Subjacent connective tissue showed numerous foam cells with clear cytoplasm and pyknotic nucleus, negative on periodic acid-Schiff staining. Immunohistochemical analysis revealed foam cells positive for anti-CD68 antibody, while anti-KI-67 antibody was restricted to the basal layer of the oral epithelium. A final diagnosis of OVX was established. The patient showed no signs of recurrence after seven months of follow-up. Physical trauma and smoking habits can be directly related to the etiology of verruciform xanthoma because the lesion is chronic and inflammatory with slow growth, and sites if high trauma are more often affected by such a lesion. The hard palate is the second most commonly affected site, and local trauma caused by smoking can be a cause of this type of lesion.

Preliminary Research for the Relationship Between Serum Levels of Low Density Lipoprotein Cholesterol and Achilles Tendon Thickness / 中国循环杂志

Objective: To analyze the relationship between the serum levels of low density lipoprotein cholesterol (LDL-C) and achilles tendon thickness (ATT). Methods: We studied 154 patients with high serum level of LDL-C (LDL-C≥3.37 mmol/L) from 2014-03 to 2015-03, the patients were at (18-75) years of age. According to《Guidelines on Prevention and Treatment of Blood Lipid Abnormality in Chinese Adults 2007》, the patients were divided into 2 groups:Borderline high LDL-C (3.3-4.12 mmol/L) group n=50 and High LDL-C (≥4.14 mmol/L) group, n=104;in addition, there was a Normal control group (LDL-C Results: ATT levels in High LDL-C group (9.42 ± 3.63) mm was higher than Borderline high group (8.24±1.73) mm and Normal control group (6.05±0.28)mm, all P Conclusion: Our preliminary research showed that the higher serum level of LDL-C associated with thicker ATT, they had positive correlation. This phenomenon should be further conifrmed by large sample and multi-center investigation.