Xantomas tuberosos en un paciente pediátrico: la clave en el diagnóstico precoz de una patología grave y poco frecuente / Tuberous xanthomas in a pediatric patient: a clue to the early diagnosis of a severe and infrequent disease

Los xantomas cutáneos reflejan el depósito de lípidos en la piel y pueden ser la única manifestación temprana de dislipidemias de inicio en la infancia. Las características y distribución de los xantomas orientan a la patología de base; los xantomas tuberosos tienen una fuerte asociación con la hipercolesterolemia homocigota familiar, una patología muy infrecuente. Su detección temprana otorga una ventana terapéutica para prevenir la ateroesclerosis acelerada y la mortalidad. Se presenta el caso de una paciente que comenzó a los dos años con xantomas tuberosos, que fueron la clave diagnóstica para identificar la hipercolesterolemia homocigota familiar subyacente.

Cutaneous xanthomas reflect lipid deposition on the skin and may be the only early manifestation of a childhoodonset dyslipidemia. Characteristics and distribution of the xanthomas signalize the underlying pathology, tuberousxanthomas being strongly associated with homozygous familial hypercholesterolaemia, an extremely rare condition. Its early detection provides a therapeutic window to prevent accelerated atherosclerosis and mortality. We present the case of a patient who started at two years with tuberous xanthomas, which were the diagnostic clue to identify the underlying homozygous familial hypercholesterolaemia.

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.

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

Abstract: 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.

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.

Xantomas eruptivos: manifestación cutánea de desórdenes de las lipoproteínas / Eruptive xanthomas: skin manifestation of the lipoprotein disorders

Los xantomas constituyen tumores cutáneos, y se presentan por depósitos de lipoproteínas en los macrófagos tisulares. Clínicamente se manifiestan como lesiones papulosas o nodulares de color amarillento, estando relacionada su distribución con las diferentes formas clínicas de presentación. Aunque no se observan con frecuencia, su presencia puede alertar sobre la existencia de alteraciones en los niveles lipídicos en sangre, y es por lo que se presentó este caso, donde la presencia de los xantomas fue indicador de un incremento de los niveles de colesterol y triglicéridos, lo que pudo constituir un importante factor de riesgo para que la paciente presentara alteraciones en otros sistemas...

Xanthomas are skin tumors, and they present as a cause of lipoprotein deposits in tissue macrophages. Clinically they take the form of yellow papular or nodular lesions, being related its distribution with their different forms of presentation. Though they are not very frequent, their presence can alert about the existence of alterations in the lipid levels in blood. That is why we presented this case, where the presence of xanthomas was an indicator of the cholesterol and triglycerides level increase, what probably was an important risk fact for the patient to present alterations in other systems...

Xantoma verruciforme: características histopatológicas y patogénesis, análisis de casos de vulva y región perianal / Verruciform xanthoma: histopathologic findings and pathogenesis: analysis of vulvar and perianal cases

El xantoma verruciforme es una lesión inflamatoria, reactiva, no tumoral, que afecta principalmente la mucosa oral, las semimucosas y la piel de las extremidades. Clínicamente se presenta como lesión única, elevada, de superficie irregular o verrucosa. La histopatología se caracteriza por hiperplasia epidérmica, paraqueratosis extensa con exocitosis de neutrófilos y acúmulos de histiocitos xantomatosos en la dermis papilar. Las hipótesis propuestas para explicar la patogénesis de la enfermedad incluyen origen metabólico, infeccioso, irritantes locales, inflamación crónica y trauma. Las diferentes teorías indican que el evento inicial es el daño de los queratocitos con liberación de productos que inducen respuesta inflamatoria, proliferación celular y liberación de lípidos, que originarían los macrófagos espumosos. El diagnóstico diferencial debe hacerse con condiloma acuminado, carcinoma escamocelular y con el tumor de células granulares. Revisamos la patogénesis del xantoma verruciforme y presentamos dos casos de lesiones en el área perineal, que ilustran sus características histopatológicas.

Xantoma eruptivo com aspecto histopatológico inusitado simulando granuloma anular: relato de caso / Eruptive xanthoma with unexpected granuloma annulare-like microscopic appearance: case report

Xantoma eruptivo e granuloma anular são doenças dermatológicas com quadros clínicos distintos que, algumas vezes, apresentam semelhanças histopatológicas que podem conduzir a diagnóstico errôneo. Relata-se o caso de paciente do sexo masculino com 34 anos, portador de dislipidemia, com lesões clinicamente características de xantoma eruptivo cujo exame histopatológico foi sugestivo de granuloma anular. No entanto, a revisão da lâmina mostrou tratar-se de xantoma eruptivo. A remissão completa e rápida das lesões após o tratamento da dislipidemia confirmou o diagnóstico de xantoma eruptivo e motivou a pesquisa sobre as semelhanças e diferenças histopatológicas entre essas doenças.

Eruptive xanthoma with unexpected granuloma annulare-like microscopic appearance - Case report Abstract: Eruptive xanthoma and granuloma annulare are dermatological diseases with different clinical findings that, sometimes, exhibit histopathological similarities with potential for misinterpretation. We report a case of an eruption of yellow-orange papules with erythematous borders in a 34-year-old male with high levels of serum triglycerides and cholesterol. The skin biopsy specimen has diagnosed granuloma annulare. Review of the histologic material revealed eruptive xanthoma. Remission of the eruption after treatment of dyslipidemia confirmed the diagnosis of the eruptive xanthoma and motivated research about the histological similarities and differences between these diseases.

Xantomas eruptivos / Eruptive xantomas

Los xantomas eruptivos son expresión de manifestaciones cutáneas de enfermedades sistémicas, específicamente de hiperlipoproteinemias, entre ellas la hipertrigliceridemia. La enfermedad es poco frecuente, aparece en brotes, se manifiesta por pápulas amarillentas localizadas en nalgas, abdomen, dorso y extremidades y es generalmente asintomática. Afecta a adultos y se asocia a un defecto genético de la lipoprotein-lipasa (LPL) y a un trastorno del metabolismo lipídico. Se presentan 2 casos clínicos de xantomas eruptivos y se realiza una revisión bibliográfica de esta patología y sus posibilidades terapéuticas.

Xanthomas: a marker for hyperlipidemias

Xanthomas are deposits of lipids in the skin and sometimes of the subcutaneous tissue that are expressed clinically as yellowish papules and plaques, nodules, and tumors. They are often, but not always, a consequence of hyperlipidemia. In these cases, a meticulous work-up nearly always reveals some disturbance in regards to the metabolism of the lipids-lack of certain lipoproteins, for example. Xanthoma tuberosum and tendinosum occur in persons with familiar hypercholesterolemia, palmar crease xanthoma in familial dysbetalipoproteinemia, plane xanthoma in persons with an underlying lymphoproliferative disorder (or normolipemic), and eruptive xanthoma in those with a genetically-transmitted lipoprotenemia. In sum, each type of xanthoma and any associated abnormality in lipid metabolism can be diagnosed with specificity. Xanthomas are deposits of lipid in the skin or subcutaneous tissue that manifest clinically as yellowish papules, nodules and tumors. They are often associated with hyperlipidemias, although some of them may be normolipemic. Xanthomas result when abnormalities in the transportation of lipids such as cholesterol, triglycerides and phospholipids cause these lipids to be deposited in the skin and being ingested by tissue macrophages. When they are deposited in the walls of arteries, they promote the development of atherosclerosis. Sometimes, by identifying the clinical variant of the xanthoma, the lipoprotein that is deposited and the clinical associations can be predicted. This discussion will focus on those xanthomas associated with hyperlipidemias

Xanthogranulomatous oophoritis and salpingitis: late sequelae of inadequately treated staphylococcal PID.

We describe the case of a 42-year-old woman who was a follow-up case of incompletely treated pelvic inflammatory disease, and presented with menorrhagia and bilateral ovarian masses. Subtotal hysterectomy with bilateral salpingo-oophorectomy was performed. Purulent material was obtained from the cystic masses, which grew Staphylococcus aureus. Histological examination of right-sided cystic mass revealed a simple cyst of the ovary. Left sided tuboovarian mass revealed the presence of lipid filled macrophages with lymphocytes, plasma cells and neutrophils; this established the diagnosis of xanthogranulomatous salpingitis and oophoritis. The case is of interest in view of the rarity of this condition; five cases of xanthogranulomatous salpingitis and oophoritis have been reported in the world literature till date.

Xantomatosis e hiperlipoproteinemia en la infancia: a propósito de un caso clínico / Xanthomas and hiperlipoproteinemia in infancy: apropos of a clinical case

Los xantomas cutáneos pueden ser marcadores cutáneos de una patología subyacente, por lo que su identificación y el conocimiento básico de las hiperlipoproteinemias hereditarias que afectan a la población infantil nos ayudarán a realizar un diagnóstico y derivación precoz de los pacientes portadores de estas enfermedades. Las alteraciones de las lipoproteínas pueden acompañarse de patologías tales como diabetes mellitus, enfermedad tiroidea o enfermedad cardiovascular ateroesclerótica precoz. Presentamos el caso clínico de un escolar portador de xantomas e hiperlipoproteinemia

Xantoma y ateroma, hipercolesterolemia familiar homo y heterocigota: riesgo de infarto precoz / Xanthoma and atheroma, homo and heterozygous familiar hypercholesterolemia: risk of early myocardiac infarct

Se presentan dos pacientes con hipercolesterolemia familiar y xantomas en cada una de sus variantes genéticas: homocigota y heterocigota. Se hace revisión y actualización de ambos cuadros: clínica, dermatológica, histopatológica, de laboratorio, por ultrasonografía, genética y terapéutica, destacando la importancia del dignóstico precoz a través de xantoma; para la prevención y el tratamiento oportuno de enfermedades cardiovasculares graves

Evoluçäo clínica de pacientes com hipercolesterolemia familiar e doença coronaria submetidas a derivaçäo ileal parcial (bypass ileal) / Clinical outcome of patients with familial hypercholesterolemia and coronary artery disease undergoing partial ileal bypass surgery

Familial hypercholesterolemia is characterized by high serum levels of total cholesterol and LDL-cholesterol. It may be homozygous or heterozygous. In homozygous patients, LDL-cholesterol levels range from 500 to 1000mg/dL and coronary artery disease is precocious, usually manifesting itself between the 2nd and 3rd decades of life. The diagnosis is often made by the presence of xanthoma tuberosum and tendinous xanthomas that appear between the 1st and 2nd decades of life. The use of high doses of statins or even unusual procedures (apheresis, partial ileal bypass surgery, liver transplantation, gene therapy), or both, is necessary for increasing survival and improving quality of life, because a reduction in cholesterol levels is essential for stabilizing the coronary artery disease and reducing xanthomas. We report our experience with 3 patients with xanthomatous familial hypercholesterolemia and coronary artery disease, who underwent partial ileal bypass surgery. Their follow-up over the years (approximately 8 years) showed a mean 30 percent reduction in total cholesterol, with a significant reduction in the xanthomas and stabilization of the coronary artery disease

Síndrome de Alagille: presentación de un caso y revisión del tema / Alagille syndrome: case report and review

Se presenta un caso de síndrome de Alagille o de escasez de conductos biliares interlobulares; se realiza la descripción de la clínica e histología de nuestro paciente, así como una revisión de esta patología, destacando el interés del tema debido a la escasa frecuencia de observación