RESUMO
Metabolic disorders are often encountered in clinical practice. Some of these diseases are associated with dermatological and musculoskeletal manifestations. Familial hypercholesterolemia is a disorder of lipoprotein metabolism characterized by elevated cholesterol, low-density lipoprotein cholesterol, xanthomas and early onset atherosclerosis. Tendinitis and arthritis have been rarely reported in patients with familial hypercholesterolemia. Here is presented a case of a young girl with migratory polyarthritis, who was diagnosed as probable homozygote familial hypercholesterolemia with hypercholesterolemic arthritis. A proper knowledge of cutaneous manifestations helps to identify patients at risk, establish the underlying diagnosis, and start early and effective therapy.
Assuntos
Artrite/complicações , Criança , Feminino , Humanos , Hiperlipoproteinemia Tipo II/complicações , Hiperlipoproteinemia Tipo II/diagnósticoRESUMO
We report a case of type IIa hyperlipoproteinemia associated with xanthoma planum and xanthoma striatum palmare. The laboratory findings showed increased serum cholesterol and triglyceride on the lipid profile, and an increased beta fraction on electrophoresis of lipoprotein, suggesting type IIa hyperlipoproteinemia. The biopsy specimens of orange yellow colored plaques on the left axillary area of a 54-year-old female showed characteristic findings of xanthoma.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Biópsia , Colesterol , Citrus sinensis , Eletroforese , Hiperlipoproteinemia Tipo II , Lipoproteínas , Temazepam , Triglicerídeos , XantomatoseRESUMO
We report a 30-year-old male who had type IIa hyperlipoproteinemia associated with xanthoma tuberosum. Yellowish nodules first appeared on the right elbow 12 years ago and gradually increased in size and number and spread to right knee. Physical examination revealed normal except for the skin lesions. The laboratory findings showed increased serum total and LDL cholesterol, but nothing triglyceride on lipid profile. Serum lipoprotein electrophoresis showed a marked increase in beta- fraction, suggesting type IIa hyperlipoproteinemia. Histopathology showed many aggregates of foam cells, Touton giant cells and fibrosis in the dermis.
Assuntos
Adulto , Humanos , Masculino , LDL-Colesterol , Derme , Cotovelo , Eletroforese , Fibrose , Células Espumosas , Células Gigantes , Hiperlipoproteinemia Tipo II , Joelho , Lipoproteínas , Exame Físico , Pele , Triglicerídeos , XantomatoseRESUMO
We report a case of a 59 year-old female with hyperlipoproteinernia who had xanthoma tuberosum, xanthoma tendinosurn and xanthoma planum. Yellowish nodules appeared on the right elbow 26 years ago and the lesions gradually increased in size and spread to the elbow, hand, knee, foot and achilles tendon. Except for the skin lesion, she was normal on physical examination. The laboratory findings showed that the serum cholesterol, beta lipoprotein and total lipid were increased. The beta band was rnarkedly elevated on electrophoresis, which suggested type IIa hyperlipoproteinemia. Histopathological findings shc wed many aggregates of foam cells and foreign body giant cells were seen in the dermis.