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

Anorexia nervosa has not been described in patients with systemic lupus erythematosus (SLE). The case of a patient with SLE who developed the classical features of anorexia nervosa is described. Although an impressive interplay between psychosocial and cultural factors was present, the possibility that this syndrome was produced by active CNS vasculitis remained.
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PMID:Anorexia nervosa in a patient with systemic lupus erythematosus. 367 92

Pernio, or chilblains, is a localized inflammatory lesion of the skin resulting from an abnormal response to cold. Five cases were seen among adolescent female patients who presented to our rheumatology service in a pediatric tertiary care center in the winter of 2003 to 2004. All 5 patients were thin (BMI of <25th percentile) and had either toes or fingers that were affected. For each, laboratory evaluation results were unremarkable, including negative antinuclear antibody profile results. Symptomatic treatment, with or without medication, was recommended. Pernio most commonly occurs among young women but may occur among older individuals or among children. Because pernio develops among susceptible individuals who are exposed to nonfreezing cold, the lesions usually begin in the fall or winter and disappear in the spring or early summer. Acute pernio may develop 12 to 24 hours after exposure to the cold. Single or multiple erythematous, purplish, edematous lesions appear, accompanied by intense pain, itching, or burning. Chronic pernio occurs with repeated exposure to the cold and the persistence of lesions. In an acute exacerbation, the major differential diagnosis alternative would be Raynaud's phenomenon, which consists of sharply demarcated cutaneous pallor and cyanosis, followed by erythema, of far shorter duration (hours rather than days). Frostbite is freezing of tissue, with resultant tissue necrosis. Several conditions have been described as predisposing subjects to pernio, including the presence of cryoproteins, excessive cold exposure, and anorexia nervosa among children and systemic lupus erythematosus and antiphospholipid antibodies among adults. It is important, therefore, when evaluating a patient with pernio, both to exclude an underlying diagnosis and to determine whether additional testing is necessary. The lesions of acute pernio are usually self-limited but may lead to recurrent disease. The involved limb should be cleaned and dried, and rewarming should occur. Prevention is the best form of therapy, and cold exposure should be minimized after an initial insult. The prognosis for properly treated pernio is excellent. Nifedipine, which produces vasodilation, has been demonstrated to be effective in reducing pain, facilitating healing, and preventing new lesions of pernio. We think that the 5 cases seen in our rheumatology clinic represent an increase, compared with prior years; the dermatology clinic at the University of Colorado reported a series of 8 children treated during a 10-year period. The reasons for the possible increase are likely multifactorial, with cold climate, a vulnerable population with thin body habitus, and cold exposure all being contributing causes. Of note, the quality of cold in Colorado is quite dry; however, the winter of 2003 to 2004 was not particularly colder or drier than prior years. All patients were very thin, and thin body habitus may be associated with increased cutaneous vasoreactivity. It is also unclear how these cases of pernio may reflect that winter's fashion trends (2 patients reported wearing sandals in winter). General pediatricians, particularly those who practice in colder climates, should be aware of the presentation and treatment of pernio in childhood.
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PMID:Pernio in pediatrics. 1614 Jun 94

Chilblain lupus erythematosus (CHLE) is a rare, chronic form of cutaneous lupus erythematosus. Sporadic cases and two families with autosomal dominant-inherited CHLE have been reported. In familial CHLE, two missense mutations in TREX1 encoding the 3'-5' repair exonuclease 1 were described in affected individuals. The pathogenesis of sporadic CHLE remains unknown. Up to 20% of patients develop systemic lupus erythematosus (SLE). An association with anorexia is discussed. In many cases, there is good response to symptomatic therapy. SLE therapeutics have good effects on SLE-typical symptoms but not on chilblains themselves. This article reviews the clinical presentation, pathogenesis, diagnosis and treatment of CHLE. As an index patient with unique features, we report a 13-year-old boy developing CHLE after anorexia nervosa. Sequencing of TREX1 was normal. With psychotherapeutic support for anorexia and after antibiotic therapy, topical steroids, physical warming and calcium channel blockers, the patient experienced significant relief. Improvement of phalangeal perfusion was demonstrated by angio-MRI.
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PMID:Chilblain lupus erythematosus--a review of literature. 1854 54

We report here a case of bilateral trichomegaly associated with alopecia areata in a 3-year-old girl, healthy except for mild atopic dermatitis. Trichomegaly is a rare condition and, in many cases, is a side effect of medication such as ophthalmic solution prostaglandin analogs and epidermal growth factor receptor inhibitors. Trichomegaly has also been associated with acquired medical conditions such as HIV, systemic lupus erythematosus, anorexia nervosa, porphyria cutanea tarda, hypothyroidism, and dermatomyositis. In very rare circumstances, trichomegaly has been described as part of congenital conditions such as Oliver-McFarlane syndrome. We believe that the development of bilateral trichomegaly in conjunction with alopecia areata in this patient represents a novel finding as it occurred in the absence of any significant health problems, congenital abnormalities, or medications.
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PMID:Trichomegaly in a 3-year-old girl with alopecia areata. 1941 69

The present study reports two cases of symptomatic essential trichomegaly. Trichomegaly may develop in various diseases, including anorexia nervosa, hypothyroidism, pregnancy, pretibial myxedema, systemic lupus erythematosus, vernal keratoconjunctivitis, and uveitis. The exact incidence trichomegaly is unknown, and the condition remains sporadically reported. Two cases of symptomatic trichomegaly without any associated systemic disorder are presented in this paper.
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PMID:Essential trichomegaly: case report. 2381 30

Systemic lupus erythematosus (SLE) frequently has neuropsychiatric involvement including affective disorders, psychosis, and cognitive dysfunction. Evidence suggests that anorexia nervosa (AN) in adolescents with SLE may be triggered by steroid-induced changes in weight and body shape. We propose that AN may be another manifestation of neuropsychiatric SLE and should be considered in this patient population. A retrospective chart review identified 7 children/adolescents diagnosed with SLE and the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition diagnostic criteria for AN, restrictive subtype, at the Hospital for Sick Children in Toronto between January 1989 and January 2011. One patient developed AN 15 months after being diagnosed with SLE that was attributed to prednisone-induced weight gain and cushingoid appearance. Of the remaining 6 patients, the median age at onset of AN symptoms was 12.2 years and diagnosis of AN was 13.6 years. The median age at SLE diagnosis was 14.2 years with median time after onset of AN symptoms of 20 months (7.5-32 months). All patients had evidence of joint symptoms and a positive antinuclear antibody, and 50% had lymphopenia at the time of SLE diagnosis. Treatment of SLE resulted in improvement of AN in all patients. The timing of the clinical presentation of AN in relation to the diagnosis of SLE and response to SLE treatment suggests that AN may be a novel presentation of neuropsychiatric SLE. Patients with AN who present with or develop joint symptoms, a positive antinuclear antibody, or lymphopenia should be investigated and followed for possible SLE.
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PMID:Chicken or the egg: anorexia nervosa and systemic lupus erythematosus in children and adolescents. 2439 81

A 13-year-old girl presented with significant weight loss, depression, anemia, and neutropenia. The preliminary diagnosis was anorexia nervosa combined with depression. Due to peripheral cytopenia, a bone marrow biopsy was performed to rule out leukemia. Lupus erythematosus (LE) cells were found in the bone marrow aspirate, which prompted autoantibody testing, although clinically it was not suspected the patient had systemic lupus erythematosus (SLE). Further testing demonstrated very high levels of antinuclear antibodies (ANA) (>12 U) and anti-double strand DNA (dsNDA) (>1000 IU/mL), which confirmed the diagnosis of SLE. The patient was treated with steroids for SLE, and symptoms improved quickly. In conclusion, although the identification of LE cells as one of the diagnostic criteria for SLE has been obsolete, careful examination of bone marrow to identify LE cells is still very important in the diagnosis of unsuspected SLE.
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PMID:Is Identification of Lupus Erythematosus Cells Still Useful? A Case Report. 2658 95

Gelatinous transformation of the bone marrow (GTBM) is a rare hematologic entity, which was first described by Paul Michael in 1930. GTBM is mostly associated with caloric intake/anorexia nervosa, although it also has been described accompanying other pathologic conditions, such as malignancy, systemic lupus erythematosus, HIV infections. Even though the diagnostic features of the hematopoietic tissue, such as hypoplasia, adipose cell atrophy, and deposition of a gelatinous substance in the bone marrow (which stains with Alcian blue at pH 2.5) are quite specific, the underlying pathogenic mechanisms remain poorly understood. Considering the evidence of reversibility-notably in cases of malnutrition and anorexia-this entity should be kept high on cards as a possible differential diagnosis of patients presenting with cytopenias and associated weight loss or starvation, especially in developing countries with nutritionally deprived populations. On an extensive review of the literature aimed at comprehensively addressing the evolution of the GTBM from the past century until now, we conclude that the lack of clinical suspicion and awareness regarding this pathologic entity has led to misdiagnosis and delayed diagnosis.
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PMID:Gelatinous transformation of bone marrow: rare or underdiagnosed? 2925 27

Individuals with psychiatric disorders have elevated rates of autoimmune comorbidity and altered immune signaling. It is unclear whether these altered immunological states have a shared genetic basis with those psychiatric disorders. The present study sought to use existing summary-level data from previous genome-wide association studies to determine if commonly varying single nucleotide polymorphisms are shared between psychiatric and immune-related phenotypes. We estimated heritability and examined pair-wise genetic correlations using the linkage disequilibrium score regression (LDSC) and heritability estimation from summary statistics methods. Using LDSC, we observed significant genetic correlations between immune-related disorders and several psychiatric disorders, including anorexia nervosa, attention deficit-hyperactivity disorder, bipolar disorder, major depression, obsessive compulsive disorder, schizophrenia, smoking behavior, and Tourette syndrome. Loci significantly mediating genetic correlations were identified for schizophrenia when analytically paired with Crohn's disease, primary biliary cirrhosis, systemic lupus erythematosus, and ulcerative colitis. We report significantly correlated loci and highlight those containing genome-wide associations and candidate genes for respective disorders. We also used the LDSC method to characterize genetic correlations among the immune-related phenotypes. We discuss our findings in the context of relevant genetic and epidemiological literature, as well as the limitations and caveats of the study.
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PMID:Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data. 3032 87