Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The pathogenesis of the lupus erythematosus results from co-operation of three principles: (1) genetical disposition, (2) increased reactivity of the immune system, (3) different exogenic influences. The genetical disposition is confirmed by family investigations, metabolic disorders and immune anomalies as well as by parallels to animal models. The reaction manner of the immune system is genetically determined. Exogenic factors influence the immune system (behaviour) either as starter or by modifying the genetical material. The most striking humoral immune phenomenon is an immense number of (auto-)antibodies. Investigations of xeroderma pigmentosum as well as with DNA of different antigenity have shown that an increase of the antigenicity is unlikely for this phenomenon. In the serum of patients there were established and partially characterized factors (mitogens, granulocytic adherence-factor) for increasing the immune reactivity. The increase of such factors may be the sequence of a T-suppressor cell-defect. Like-wise no interdigitating cells in systemic lupus erythematosus have been found, cells which may be responsible for the terminal differentiation of T-lymphocytes. The mode of action of exogenic factors is represented and discussed with the example of the UV provocation.
 ...
PMID:[New studies on the pathogenesis of lupus erythematosus]. 9 93

Out of a total of 370 patients with photosensitivity disorders, the light sensitivity had started at an age of 15 years or earlier in 95 cases (26%). Seventy-eight of these suffered from polymorphous light eruptions (PMLE). In half of the PMLE cases the morphology of the light-induced rash was classified as prurigo-like, and in one-fourth as vesicopapular. Other registered photodermatoses with childhood onset were xeroderma pigmentosum, erythropoietic protoporphyria, systemic lupus erythematosus and pellagra. No childhood cases of photosensitivity from external chemicals or internal medication were encountered.
 ...
PMID:Photosensitivity in childhood. 695 15

A patient is described who has a unique combination of symptoms that correspond with two sun-sensitive conditions: xeroderma pigmentosum (XP) and systemic lupus erythematosus (SLE). Both of these conditions have been suggested as being associated with a defect in DNA repair, but this is only clearly established for XP. The patient described is the only known case among U.S. blacks, thus far, although African black cases are known. Her DNA repair levels are 20--30% of normal, within the range found for many XP cell cultures and consistent with her assignment to group C by other investigators. Unusual for group C cases, however, are the neurological disorders, some of which correspond to those found in the de Sanctis Cacchione form of XP, which is commonly assigned to group A. Whether the associated SLE is a consequence of some special aspect of this particular XP condition or whether it is fortuitous cannot be resolved at present.
 ...
PMID:Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus. 738 85

A connection between vitamin D deficiency and severe health problems including various types of cancer has been demonstrated. We have shown that patients that have to protect themselves against solar UV radiation for medical reasons, including patients with xeroderma pigmentosum (XP), basal cell nevus syndrome (BCNS), lupus erythematodes (LE) or transplant recipients, are at risk to develop vitamin D deficiency. We conclude that 25-hydroxyvitamin D serum levels as a measure of vitamin D status have to be analyzed in patients that have to protect themselves against solar UV radiation for medical reasons. Suboptimal vitamin D status has to be substituted (e.g. via oral treatment) to protect against serious vitamin D deficiency-related health problems without increasing the risk to develop solar UV-induced skin cancer. Our finding that protection against solar UV radiation causes vitamin D deficiency underlines the need for re-defining dermatological recommendations for solar UV protection in skin cancer prevention programs.
 ...
PMID:Sunlight, skin cancer and vitamin D: What are the conclusions of recent findings that protection against solar ultraviolet (UV) radiation causes 25-hydroxyvitamin D deficiency in solid organ-transplant recipients, xeroderma pigmentosum, and other risk groups? 1720 18

A wide variety of dermatoses may arise in exposed areas and are at the same time induced or exacerbated by irradiation from the sun. The spectrum may range from acute sunburn to chronic effects of sun damage, including elastosis and ultraviolet-induced skin cancer. Inflammatory ultraviolet-induced dermatoses have a confusing nomenclature and classification that often leads to difficulties in the differential diagnosis. Modern nosology differentiates primary from secondary photodermatoses. Primary photodermatoses are believed to be mainly irradiation-induced and immunologically mediated. If the pathophysiology is not clearly defined, they are also called idiopathic. In cases of a known photosensitizer, local and systemic phototoxic or photoallergic reactions can be differentiated. Secondary photodermatoses have an established pathophysiology; for example, an enzyme defect such as occurs in the porphyrias or xeroderma pigmentosum, which leads to the abnormal sun sensitivity. Finally, preexisting dermatoses may be exacerbated by irradiation from the sun, as in systemic lupus erythematosus or Darier disease.
 ...
PMID:Sun exposed skin disease. 2139 58

Complement is one of the most important mechanisms of natural resistance preventing infections in humans and animals. It is actively involved in the pathogenesis of several diseases, including skin diseases, characterized by the presence of autoantibodies, foreign microorganisms, altered tissue cells, and the presence of mannan. Complement is intended to kill invading microorganisms but it can also destroy the organism's own damaged or altered cells. It is characterized by vigorous activity and is also potentially harmful for the host if triggered in its own body. This review discusses the significance of complement activation for emerging skin diseases and highlights the importance of serological laboratory tests for the detection of complement system activity alterations in skin diseases such as pemphigus vulgaris, bullous pemphigoid, herpes gestationis, dermatitis herpetiformis, porphyria, urticaria, angioedema, cutaneous vasculitis, systemic lupus erythematosus, partial lipodystrophy, lichen planus, xeroderma pigmentosum, psoriasis, and recurrent cutaneous infections. Finally, we draw attention to the current potential for treating these diseases with complement inhibitors.
 ...
PMID:Complement in skin diseases. 2187 99

Sirtuins are a family of seven proteins in humans (SIRT1-SIRT7) that are involved in multiple cellular processes relevant to dermatology. The role of sirtuins in other organ systems is established. However, the importance of these proteins in dermatology is less defined. Recently, sirtuins gained international attention because of their role as "longevity proteins" that may extend and enhance human life. Sirtuins function in the cell via histone deacetylase and/or adenosine diphosphate ribosyltransferase enzymatic activity that target histone and non-histone substrates, including transcription regulators, tumor suppressors, structural proteins, DNA repair proteins, cell signaling proteins, transport proteins, and enzymes. Sirtuins are involved in cellular pathways related to skin structure and function, including aging, ultraviolet-induced photoaging, inflammation, epigenetics, cancer, and a variety of cellular functions including cell cycle, DNA repair and proliferation. This review highlights sirtuin-related cellular pathways, therapeutics and pharmacological targets in atopic dermatitis, bullous dermatoses, collagen vascular disorders, psoriasis, systemic lupus erythematosus, hypertrophic and keloid scars, cutaneous infections, and non-melanoma and melanoma skin cancer. Also discussed is the role of sirtuins in the following genodermatoses: ataxia telangiectasia, Cowden's syndrome, dyskeratosis congenita, Rubenstein-Taybi, Werner syndrome, and xeroderma pigmentosum. The pathophysiology of these inherited diseases is not well understood, and sirtuin-related processes represent potential therapeutic targets for diseases lacking suitable alternative treatments. The goal of this review is to bring attention to the dermatology community, physicians, and scientists, the importance of sirtuins in dermatology and provide a foundation and impetus for future discussion, research and pharmacologic discovery.
 ...
PMID:Sirtuins in dermatology: applications for future research and therapeutics. 2337 38