Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0242339 (dyslipidemia)
 13,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Berardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, patients manifest generalized lipoatrophy at birth or until 2 years of age, and in adolescence usually develop marked insulin resistance with rapid progression to diabetes and dyslipidemia. We report the case of a 17-year-old Berardinelli-Seip syndrome patient with eruptive xanthoma associated with severe hypertriglyceridemia. It is worth noting Eruptive xanthoma as a dermatological manifestation that is not generally highlighted in the reports of cases of this genetic metabolic disorder.
An Bras Dermatol
PMID:Do you know this syndrome? Berardinelli-Seip syndrome. 2447 21

Psoriasis is a polygenic, inflammatory and progressive disease, characterized by an abnormal differentiation and hyperproliferation of keratinocytes, associated with impaired immunologic activation and systemic disorders, while psoriatic arthritis is a chronic inflammatory articular disease. Pathophysiology of psoriasis comprises a dysfunction of the immune system cells with an interactive network between cells and cytokines supporting the initiation and perpetuation of disease and leading to inflammation of skin, enthesis and joints. Recent studies have shown an important role of systemic inflammation in the development of atherosclerosis. Corroborating these findings, patients with severe Psoriasis have marked incidence of psoriatic arthritis, cardiovascular diseases, hypertension, dyslipidemia, obesity and diabetes mellitus, showing an increased risk for acute myocardial infarction, which suggests that the condition is not restricted to the skin. Nuclear receptors are ligand-dependent transcription factors, whose activation affects genes that control vital processes. Among them the peroxisome proliferator-activated receptor is responsible for establishing the relationship between lipids, metabolic diseases and innate immunity. In the skin, peroxisome proliferator-activated receptors have an important effect in keratinocyte homeostasis, suggesting a role in diseases such as psoriasis. The peroxisome proliferator-activated receptors agonists represent a relevant source of research in the treatment of skin conditions, however more clinical studies are needed to define the potential response of these drugs in patients with psoriasis and psoriatic arthritis.
An Bras Dermatol
PMID:Peroxisome proliferator-activated receptor agonists (PPARs): a promising prospect in the treatment of psoriasis and psoriatic arthritis. 2447 26

Psoriasis is a chronic inflammatory skin disease affecting approximately 2% of the population worldwide. In the past decade, many studies have drawn attention to comorbid conditions in psoriasis. This literature review examines the epidemiological evidence, pathophysiological commonalities, and therapeutic implications for different comorbidities of psoriasis. Cardiovascular disease, obesity, diabetes, hypertension, dyslipidemia, metabolic syndrome, nonalcoholic fatty liver disease, cancer, anxiety and depression, and inflammatory bowel disease have been found at a higher prevalence in psoriasis patients compared to the general population. Because of the wide range of comorbid conditions associated with psoriasis, comprehensive screening and treatment must be implemented to most effectively manage psoriasis patients.
Clin Cosmet Investig Dermatol 2014
PMID:Psoriasis and comorbidities: links and risks. 2479 Apr 63

IMPORTANCE An association between the metabolic syndrome (MetS) and chronic inflammatory diseases, such as psoriasis or rheumatoid arthritis, has been suggested.Hidradenitis suppurativa (HS), a more localized chronic inflammation of the skin, has been speculated to have a similar association. Hidradenitis suppurativa is a substantial burden for the individual and a socioeconomic burden globally. Information about the burden of possible comorbidities is scarce.OBJECTIVE To investigate the possibility of an association between HS and MetS.DESIGN, SETTING, AND PARTICIPANTS Cross-sectional population- and hospital-based study of HS and MetS.We identified 32 patients with physician-verified HS from the outpatient clinic at the Department of Dermatology, Roskilde Hospital, and 326 patients with HS and 14 851 individuals without HS from the general population. Individuals with HS were younger,predominantly female, and more often smokers compared with the non-HS group.EXPOSURE Hidradenitis suppurativa.MAIN OUTCOMES AND MEASURES Metabolic syndrome and its components of diabetes mellitus, hypertension, dyslipidemia, and obesity.RESULTS When compared with the non-HS group, the odds ratios (ORs) for the hospital HS and population HS groups were 3.89 (95%CI, 1.90-7.98) and 2.08 (95%CI, 1.61-2.69),respectively, for MetS; 5.74 (95%CI, 1.91-17.24) and 2.44 (95%CI, 1.55-3.83), respectively, for diabetes mellitus; 6.38 (95%CI, 2.99-13.62) and 2.56 (95%CI, 2.00-3.28), respectively, for general obesity; and 3.62 (95%CI, 1.73-7.60) and 2.24 (95%CI, 1.78-2.82), respectively, for abdominal obesity. With regard to dyslipidemia, significant results were found for decreased levels of high-density lipoprotein cholesterol, with ORs of 2.97 (95%CI, 1.45-6.08) and 1.94(95%CI, 1.52-2.48) for the hospital HS and general population HS groups, respectively, when compared with the non-HS group. With regard to increased triglyceride levels, only the result for the population HS group compared with the non-HS group was significant, with an OR of1.49 (95%CI, 1.18-1.87). The OR for hypertension, which was only significant for the hospital HS group compared with the non-HS group, was 2.14 (95%CI, 1.01-4.53). Obesity and inflammation acted as possible confounders. The ORs were higher for the hospital HS group compared with the population HS group. The association between HS and MetS was not influenced by the degree of HS severity.CONCLUSIONS AND RELEVANCE As with more systemic inflammatory diseases, HS appears to be associated with MetS, indicating substantial comorbidities. Because this study is cross-sectional, causality remains to be explored.
JAMA Dermatol 2014 Dec
PMID:Association of metabolic syndrome and hidradenitis suppurativa. 2522 29

Cases of radiation-induced skin injury after fluoroscopically guided procedures have been reported since 1996, though the majority of them have been published in Radiology and Cardiology literature, less frequently in Dermatology journals. Chronic radiation dermatitis induced by fluoroscopy can be difficult to diagnose; a high grade of suspicion is required. We report a case of an obese 46-year-old man with hypertension, dyslipidemia, and severe coronary artery disease. He developed a pruritic and painful atrophic ulcerated skin plaque over his left scapula, six months after fluoroscopically guided stent implantation angioplasty. The diagnosis of radiodermatitis was confirmed histologically. We report this case to emphasize the importance of recognizing fluoroscopy as a cause of radiation dermatitis. A good clinical follow-up at regular intervals is important after long and complicated procedures, since the most prevalent factor for injury is long exposure time.
Case Rep Dermatol Med 2014
PMID:Ulcerated radiodermatitis induced after fluoroscopically guided stent implantation angioplasty. 2527 41

A 79-year-old Thai woman with advanced renal failure, dyslipidemia and anemia of chronic disease was admitted to hospital with prolonged fever, productive cough and multiple discrete small pustules on her face, trunk and extremities. A chest X-ray revealed diffuse miliary infiltration. Mycobacterium tuberculosis complex DNA was detected by polymerase chain reaction in sputum and scrapings of pustules from her skin. Blood culture identified M. tuberculosis complex. Pulmonary and cutaneous miliary tuberculosis was diagnosed. The patient's symptoms improved after 3 weeks of treatment with isoniazid, rifampicin, ethambutol and pyrazinamide. This report details a case of cutaneous miliary tuberculosis in a non-dialysis chronic kidney disease patient.
Case Rep Dermatol 2014 Sep
PMID:Cutaneous miliary tuberculosis in a chronic kidney disease patient. 2549 81

Psoriasis is a common, chronic inflammatory dermatosis that often has its onset during childhood. There is increasing evidence that psoriasis in adults is associated with obesity, the metabolic syndrome, and associated comorbidities, including insulin resistance/type 2 diabetes, dyslipidemia, hypertension, and cardiovascular disease. This association is postulated to arise, at least in part, as a result of a systemic proinflammatory state that is mediated by adipose tissue. Several recent observational studies suggest that children and adolescents with psoriasis may be at increased risk of being overweight and obese as well as having an increased risk for features of the metabolic syndrome. Such an association raises concern with regards to the long-term health implications for children and adolescents with psoriasis and suggests that better awareness, evaluation, and management of overweight and obese patients and associated metabolic disease are warranted in this population.
Clin Dermatol
PMID:Obesity and the metabolic syndrome in pediatric psoriasis. 2588 31

Clinical genomic diagnosis is unfamiliar to many dermatologists. Limited knowledge of bioinformatics has limited the use of the next generation sequencing method in dermatological clinics. We evaluated the usefulness of whole genome sequencing as a diagnostic approach to inherited dermatological disease. Here, we present our experience with two female siblings with atypical familial generalized lipodystrophy with diabetes mellitus and dyslipidemia. Whole genome sequencing was performed to diagnose the inherited disease. We compared control genomic databases using the Exome Aggregation Consortium, and filtered false-positive calls with the segmental duplication, non-flagged single nucleotide variants and COSMIC mutation databases, and applied the prediction tools of SIFT and PolyPhen2. The two siblings who presented with generalized lipodystrophy were diagnosed with an atypical progeroid syndrome with a p.D136H mutation in the LMNA gene (NM_005572). We diagnosed a familial atypical progeroid syndrome using whole genome sequencing. In this paper, we present our experience with whole genome sequencing and demonstrate that it can provide useful information for clinical genomic diagnosis of inherited diseases with atypical clinical features, such as atypical progeroid syndrome.
J Dermatol 2015 Dec
PMID:Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome. 2612 71

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disorder of unknown etiology. The role of hormones in HS remains unclear, but the observation of premenstrual flares, female predominance, and improvement during pregnancy suggest a hormonal/metabolic background. The reported positive effects of antiandrogen therapy supports a possible role of androgens. The predominant onset of the disease years after puberty may indicate a metabolic disorder. Obesity contributes significantly to HS pathogenesis; diabetes, dyslipidemia, the metabolic syndrome, and polycystic ovarian syndrome are among the commonest comorbidities. More studies are required to clarify a potential hormonal dysregulation in HS.
Dermatol Clin 2016 Jan
PMID:Endocrinologic Aspects of Hidradenitis Suppurativa. 2661 57

Sitosterolemia is a very rare autosomal recessive lipoprotein metabolic disorder caused by homozygous or compound heterozygous mutations in one of the two adenosine triphosphate-binding cassette transporter genes, ABCG5 and ABCG8. Sitosterolemia is clinically characterized by xanthomas and atherosclerosis, arthritis, fever, hemolysis and macrothrombocytopenia even in early childhood. We described a 16-month-old girl, who had numerous yellowish-brown intertriginous xanthomas along the skin creases on the extremities with severe hypercholesterolemia and elevated plant sterol levels. Histopathologically, xanthoma showed aggregation of foam cells in the dermis with a zone of mucin deposits in the dermal papilla. Electron microscopy showed numerous membrane-bound lipid droplets and multivesicular lipid bodies in the foam cells, a round cell containing lipid droplets in the basal cell layer and abundant mucin deposits just beneath the basal lamina. Diagnosis of sitosterolemia was confirmed by DNA sequencing showing compound heterozygosity for previously reported missense mutations in exon 9 of ABCG5. Infants presenting with multiple xanthomas should be investigated for sitosterolemia, if there is no family history of dyslipidemia.
J Dermatol 2016 Nov
PMID:Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia. 2740 67


<< Previous 1 2 3 4 5 6 Next >>