A Boy with Yellowish Striae on the Palmar Crease / 대한피부과학회지

No abstract available.

A Case of Type III Hyperlipoproteinemia Accompanied by Xanthoma Striatum Palmare / 대한피부과학회지

Xanthomas are localized lipid deposits within organs that may manifest as papules, plaques, or nodules in skin. They are commonly associated with all types of hyperlipidemia. Xanthoma striatum palmare characterized by xanthomas of the palmar creases is a rare but important diagnostic physical sign of dysbetalipoproteinemia, also known as type III hyperlipoproteinemia. Type III hyperlipoproteinemia is characterized by the early onset of cardiovascular disease and peripheral vascular disease. We describe herein the case of a 51-year-old female patient affected by xanthoma striatum palmare associated with elevated plasma levels of triglycerides and cholesterol and a lipoprotein electrophoresis pattern consistent with type III hyperlipoproteinemia.

genetic characterization of familial hypercholesterolemia in Pakistan

Familial hypercholesterolemia [FH] is caused by mutations in the genes coding for the low-density lipoprotein receptor [LDLR], apolipoprotein B-100, or proprotein convertase subtilisin/kexin type 9 [PCSK9]. In this study, a molecular analysis of LDLR gene and APOB gene was performed in a group of 17 unrelated patients from Pakistan. All patients were clinically diagnosed with definite or possible hypercholesterolemia according to a uniform protocol and internationally accepted WHO criteria. Mutational analysis included all exons, exon-intron boundaries and the promoter sequence of the LDLR, and fragments of exon 26 and exon 29 of APOB. In our study, SNPs within LDLR exon 12, rs688 and LDLR exon 13, rs5925 were identified. We identified associations between SNPs and increased levels of cholesterol in Pakistani population. We failed to detect polymorphisms in the APOB gene

A case of type 3 hyperlipoproteinemia associated with generalized tuberoeruptive xanthomas / 대한내과학회지

A 55-year-old female presented with extensive yellowish eruptive plaques over both elbows and the buttocks that she had first noticed 2 years earlier. Yellowish orange discoloration of her palmar creases was noted. Her serum cholesterol and triglyceride were markedly elevated. Lipoprotein electrophoresis showed a broad beta band. On apolipoprotein E genotyping, the arginine at position 158 had been replaced by cysteine in both alleles (E2/E2). Under a diagnosis of type III hyperlipoproteinemia, combined atorvastatin and fenofibrate therapy for 2 months normalized the serum cholesterol and triglyceride levels.

Familial dysbetalipoproteinemia: a potentially fatal disorder

Familial dysbetalipoproteinemia is an inherited disorder in which both cholesterol and triglycerides are elevated in the plasma of the blood, which pre-disposes people to coronary artery disease and peripheral vascular disease. We report two young boys with multiple cutaneous xanthomas and grossly abnormal serum cholesterol and triglycerides. Two of the family members had died of cardiovascular accidents in young age and rest of the family members had deranged lipid profile. Patients were managed with lipid lowering drugs and fat restriction diet. All family members were counseled and advised regular exercise and follow-up

A Case of Generalized Plane Xanthoma Associated with Multiple Myeloma and Hyperlipoproteinemia / 대한피부과학회지

Generalized plane xanthoma is a group of plane xanthomas that appear as yellow to yellow-brown flat patches or slightly elevated plaques with a wide-spread distribution. The disease is frequently associated with multiple myeloma or other reticulo-endothelial malignancies and monoclonal gammopathy with unknown significance, and when accompanied by these hematologic malignancies, normolipoproteinemia is invariably associated. We present a case of generalized plane xanthoma associated with multiple myeloma and type III hyperlipoproteinemia in a 48 year-old woman, and this is the first report in Korean literature.

Type III hyperlipoproteinemia associated with generalized tuberoeruptive xanthomas / 대한임상병리학회지

A 61-year-old female patient presented with the type III hyperlipoproteinemia (HLP) in association with generalized eruptive and tuberous xanthomas. She had hypercholesterolemia and hypertriglyceridemia, and extensive coronary atherosclerosis. Further studies revealed a positive standing plasma test, abnormal beta-very low density lipoprotein (VLDL) on lipoprotein electrophoresis, markedly elevated very low density lipoprotein-cholesterol (VLDL-C) to plasma triglycerides (TG) ratio (0.86) and homozygosity for apolipoprotein E2. After about one year of therapy with lipid-lowering agents and diet restriction, a significant reduction of serum cholesterol and TG was observed and the yellowish orange discolorations of palmar creases disappeared from her palms.

A Case of Type III Hyperlipoproteinemia Associate with Xanthoma Tuberosum and Xanthoma Striatum Palmare / 대한피부과학회지

We report a case of type III hyperlipoproteinemia associated with xanthoma eruptivum. Xanthoma tuberosum, and xanthoma striatum palmare whose clinical symptoms have been improved by the treatment of gemfibrozil. A 31-year-old male patient visited our clinic for evaluation of multiple yellowish nodules on the elbows, multiple yellowish plaques on the buttocks and linear yellowish plaques along with the palmar creases on both palms. The blood chemistry showed an elevation of cholesterol and triglyceride. Lipoprotein electrophoresis showed broad betazone and plasma standing test showed turbid plasma. Lipoprotein ultracentrifugation showed that the ratio of VLDL cholesterol and plasma triglyceride was 0.38. According to the above findings, we diagnosed this patient as type III hyperlipoproteinemia. After 4 months of treatment with diet and gemfibrozil, the serum level of cholesterol and triglyceride were reduced to normal range. The skin lesions of both palms showed marked improvement but the skin lesions on elbows and buttocks were not much improved.

Colesterol-IDL y/o colesterol-ß-VLDL: un nuevo parámetro en diferentes fenotipos lipoprotéicos / IDL- an/or ß-VLDL cholesterol: a new parameter in different lipoproteic phenotypes

IDL y/o ß-VLDL son consideradas una lipoproteína aterogénica. Nuestro objetivo es evaluar su concentración plasmática en diferentes fenotipos primarios y secundarios de dislipemia (según OMS). Se definió normolipemia de acuerdo a colesterol (C) total *200 mg/dl, triglicéridos *170 mg/dl, C-LDL *160 mg/dl, C-HDL *40 mg/dl y ausencia de "ß-ancha" en el lipodograma electroforético. El percentilo 90 de la concentración de C-IDL previamente hallado en 30 controles sanos fue 12 mg/dl. Los datos obtenidos no reflejan necesariamente la distribución de fenotipos y patologías en la población general, debido a que se obtuvieron en un laboratorio de referencia. Entre 99 pacientes normolipénicos (NL), cuya Xñ DS fue de 8,8 ñ 6,5 mg/dl, se encontró un subgrupo de 22 con C-IDL > 12 mg/dl cuya Xñ DS fue 18,7 ñ 5,3 mg/dl. En el fenotipo IIa la Xñ fue 12,3 ñ 8,3 mg/dl (n=40). En el fenotipo IIb la Xñ DS fue 16,4 ñ 7,9 mg/dl (n=20). Los fenotipos III y V presentaron en todos los casos C-IDL elevado (Xñ DS = 64,6 ñ 28,6 y 19,2 ñ 3,2 mg/dl respectivamente). En el fenotipo IV la Xñ DS fue 22,6 ñ 11,6 mg/dl (n=10). Todos los fenotipos presentaron C-IDL mayor que los NL (p<0.05 o menor, test U-Mann Whitney). El 22%de los pacientes "aparentemente" NL tenían C-IDL > 12 mg/dl, siendo éstos postmenopáusicas, diabéticos u obesos. De estos datos surge la conveniencia de incluir la medida de C-IDL en el seguimiento de estas patologías y de los fenotipos IIb, III, IV y V

Electroforesis de lipoproteínas en gel de agarosa / Lipoproteins in agar gel electrophoresis

Los perfiles de los tipos clásicos mencionados pueden encontrarse en forma aislada o en diversas combinaciones. Muchas veces el perfil resulta limítrofe entre dos clasificaciones, siendo difícil incluirlo en uno de los dos tipos. Este problema se presenta en el 10%de las muestras

Type III Hyperlipoproteinemia / 대한피부과학회지

We report a case of type III hyperlipoproteinemia which is called a broad-beta disease. A 53 year old female patient visited our clinic for the evaluation of multiple yellowish papules on extremities and eyelids. The patient showed various types of xanthoma includiiig eruptive, tuberous, tendinous xanthomas and xanthelasma palpebrarum, xanthoma striatum palmare. The blood chemistry revealed a marked elevstion of cholesterol and triglycerides and agarose gel electrophoresis showed a single peak at prebeta and beta portion without separation. On histopathologic studies, typical foam cells were showen.

Descripción de tres casos con hiperlipoproteinemias tipo III / A description of three cases with hyperlipoproteinemia type III

Hiperlipoproteinemia tipo III es una enfermedad genetica caracterizada por hipertrigliceridemia, hipercolesterolemia y por presencia en el plasma de lipoproteinas de muy baja densidad, enriquecidas en colesterol. Los pacientes con este padecimiento desarrollan xantomas tuberosos y ateroesclerosis prematura. En este informe se presenta tres casos de pacientes con hiperlipoproteinemias tipo III. En dos de ellos la hiperlipoproteinemia se manifesto en la infancia. El perfil de los lipidos y lipoproteinas y la electroforesis del plasma que mostro una banda ancha con movilidad prebeta fueron caracteristicos de la hiperlipoproteinemia tipo III. El fenotipo de la apolipoproteina E (APO E), por medio de enfoque isolectrico, fue APO E2/2 en dos casos y APO E3/2 en el otro. Se revisan las anormalidades metabolicas asociadas a esta enfermedad asi con el efecto de la intervencion nutricional y farmacologica de los pacientes con esta enfermedad genetica

Hiperlipoproteinemias primarias. / Primary hyperlipoproteinemias

Se presenta un lactante menor con hiperlipoproteinemia tipo III. Se revisa la literatura existente, analizandose el cuadro clinico y de laboratorio y se comentan las caracteristicas de cada tipo de hiperlipoproteinemia primaria, enfantizandose aquellas que posibilitan un diagnostico diferencial entre ellas.La presencia de suero lechoso, xantomas eruptivos, colesterol, trigliceridos y lipidos totales sericos elevados y un patron electroforetico con quilomicrones discretamente elevados, betalipoproteinas muy elevadas y alfalipoproteinas discretamente disminuidas nos permiten catalogar este paciente en el tipo III. Se intento tratamiento con dieta de 3 g de lipidos diarios, sin obtener respuesta

Hyperlipoproteinimia Type III ( Broad Beta disease, Floating beta lipoproteins ) with Review of Literatures of Primary Hyperlippoproteinemias / 대한피부과학회지

A stout and obese fourty five year-old Korean man was affected with hyperlipoproteinemia type III. His skin lesion showed yellowish papular eruptive xanthomas with erythematous halo located chiefly on the trunk and extensor aspects of the extremities including both palms. In addition to the skin lesion he showed pea-sized cervical lymphnode swellings, slightly tessellated fundi and, on ECG, premature ventricular contraction. Otherwise no specific findings were seen. The laboratory examinations showed increases of both serum cholesterol and triglycerides, increased fasting blood sugar level and abnormal glucose tolerance curve with turbid color of fasting blood serum which had been kept standing at 4C for 24 hours. On the paper electrophoresis "broad beta band" blending with the pre-beta area was noted. The authors discussed laboratory characteristics, clinical manifestations and differential diagnosis of primary hyperlipoproteinemia on each type with review of the literatures of the disease.