Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a young woman with systemic lupus erythematosis (SLE) who developed diabetes secondary to extreme insulin resistance, associated with severe hyperandrogenism and acanthosis nigricans. Her insulin resistance was found to be associated with high titers of insulin receptor antibodies. The hyperandrogenism has been favourably influenced by cyclical treatment with cyproterone acetate and ethinyl oestradiol, but the insulin resistance and acanthosis nigricans have remained unmodified after 15 months of follow up.
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PMID:Hyperandrogenism, insulin resistance, acanthosis nigricans, and systemic lupus erythematosis associated with insulin receptor antibodies. 338 33

Diseases in which involvement of the nails may be helpful in the diagnosis of dermatologic disease elsewhere include psoriasis, lichen planus, Darier's disease, alopecia areata and totalis, keratotic scabies, scleroderma, and lupus erythematosus and dermatomyositis. Dermatologic diseases in which involvement of the nail commonly occurs but is relatively nonspecific and not diagnostic include dermatitis, lichen striatus, parakeratosis pustulosa, pityriasis rubra pilaris, acrokeratosis paraneoplastica, pemphigus vulgaris, epidermolysis bullosa, porokeratosis of Mibelli, and acanthosis nigricans. These entities are described and treatments summarized as appropriate.
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PMID:Dermatologic diseases of the nail unit other than psoriasis and lichen planus. 383 May 3

The authors report the case of a 22-year-old Guatemalan in whom lupus was diagnosed 8 months after a second pregnancy. The diagnosis of lupus met the criteria of the ARA: Raynaud's syndrome, alopecia, arthralgia, thrombophlebitis, facial erythema, antinuclear factor at 1/100, Farr at 75 p. 100 and immunofluorescent demonstration of IgM binding in healthy skin. Two months after the beginning of the lupus, there was onset of insulin-resistant ketosic diabetes without overweight. The serum insulin was 1.140 mu U/ml. Acanthosis nigricans was noted and confirmed by a biopsy. Insulin-resistance can be attributed to anti-membrane receptor antibodies titrating at 1/200 (R. Khan). The short-term progress of the disease was favorable on corticosteroid treatment. Insulin could be stopped, but high insulin serum levels persisted. This case meets criteria for type B as defined by Flier, Khan and Roth, and is the first European case of lupus with a complete presentation. Short-term progress was favorable, and there is no evidence to affirm that there will be a tardive progression towards hypoglycemia which is, however, possible due to the persistence of elevated serum insulin levels.
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PMID:[Lupus, insulin-resistant diabetes and acanthosis nigricans (author's transl)]. 723 1

Acanthosis nigricans, insulin receptor antibody, and systemic lupus erythematosus are associated in the potentially lethal syndrome of type B insulin resistance. Hyperpigmentation has been reported rarely, while glucose intolerance is common in these patients. We report an adolescent girl with acanthosis nigricans, hyperpigmentation, insulin receptor antibody, and systemic lupus erythematosus without glucose intolerance. Insulin resistance may be mild or transient in some patients with type B insulin resistance. Resolution of skin lesions was noted during therapy of SLE, and was associated with disappearance of insulin receptor antibody.
Lupus 1997
PMID:Systemic lupus erythematosus with acanthosis nigricans, hyperpigmentation, and insulin receptor antibody. 910 36

The frequency of insulin receptor autoantibodies (IR-ab) was determined among adolescents and young adults with documented insulin resistance syndrome (IRS) with and without concomitant autoimmunity. The study population was comprised of 61 patients with obesity, acanthosis nigricans and insulin resistance (simple IRS); 12 with IRS and other autoimmune problems (lupus erythematosus, rheumatoid arthritis, dermatomyositis) (type B insulin resistance); six with autoimmune polyglandular syndrome type 2; and 40 healthy controls. Using our newly developed radiobinding assay system, we found no control positive while 25% of the patients with type B IRS (3/12) were positive, as expected. However, we found that 9.8% of the patients with simple IRS (6/61) were also reproducibly positive. All the latter patients with positive IR-ab were female with ovarian hyperandrogenism. The phenotype of those affected was otherwise unremarkably different from those without IR-ab. Our findings suggest that autoimmunity to insulin receptors may be causal in IRS especially for females with ovarian hyperandrogenism, and that IR-ab may be found in IRS besides those previously defined by the type B phenotype. Determining the level of IR-ab in childhood onset IRS may provide mechanistic insights into the genesis of insulin resistance and lead to novel treatment approaches.
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PMID:Insulin receptor autoimmunity and insulin resistance. 1855 68

Cutaneous manifestations are commonly observed in pediatric patients with systemic lupus erythematosus. Acanthosis nigricans, however, is rarely reported, and even less often in association with neuropsychiatric manifestations of lupus erythematosus. We describe a 9-year-old boy with acute behavioral and cognitive deterioration, combined with cutaneous, diffuse hyperpigmented and hyperkeratotic plaques. Cerebral magnetic resonance imaging revealed cortical atrophy and white matter abnormalities involving the fornix, corpus callosum, and parieto-occipital periventricular regions. The presence of progressive cognitive and behavioral deterioration, combined with abnormal white matter signals on magnetic resonance imaging, led us to suspect X-linked adrenoleukodystrophy. The subsequent development of systemic signs, together with positive serologic tests, confirmed the diagnosis of neuropsychiatric lupus with acanthosis nigricans. We review the literature on acanthosis nigricans in systemic lupus erythematosus and the value of magnetic resonance imaging in evaluating patients with neuropsychiatric systemic lupus.
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PMID:Atypical presentation of neuropsychiatric lupus with acanthosis nigricans. 2296 44

The skin often signals a number of systemic disease, making skin findings of paramount significance. Paraneoplastic diseases and collagen vascular diseases are vitally important illnesses. Paraneoplastic diseases and collagen vascular diseases may also occur with many different acral skin findings. Paraneoplastic skin diseases, associated with some cancers, are by definition nonmalignant skin disorders. These diseases can occur before, simultaneously, or after the diagnosis of cancer. Acral paraneoplastic diseases include acanthosis nigricans maligna, acquired pachydermatoglyphia, acrokeratosis paraneoplastica, palmoplantar keratoderma, and paraneoplastic nail disorders. Collagen vascular diseases include the acral skin findings of lupus erythematosus, scleroderma, dermatomyositis, and rheumatoid arthritis. Any acral skin finding may be encountered as the first finding of an undiagnosed malignancy or collagen vascular diseases. The role of the dermatologist is significant for often being the first physician to suspect a malignancy or collagen vascular disease.
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PMID:Acral manifestations of paraneoplastic and collagen vascular diseases. 2793 12

Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution. Emollients and topical corticosteroids are first-line therapies. Topical calcineurin inhibitors are second-line, steroid-sparing drugs for certain conditions, such as face and eyelid eczema. Systemic and immunologic conditions have mucocutaneous features, such as malar rash, discoid lupus, and photosensitivity in systemic lupus erythematosus; lip, oral, and extremity changes as well as polymorphous rash in Kawasaki disease; erythematous, scaly plaques in psoriasis; and xerosis and face, hand, and leg skin changes in type 1 diabetes. Genetic conditions that manifest as changes in skin pigmentation are important to recognize because of the thorough diagnostic evaluation they warrant, the often challenging interventions they necessitate, and the permanent disability that frequently accompanies them. These conditions include neurofibromatosis, LEOPARD syndrome, incontinentia pigmenti, congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome, hypomelanosis of Ito, and acanthosis nigricans. Childhood dermatologic emergencies often are associated with infection and drugs and require early recognition and intervention.
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PMID:Common Skin Conditions in Children: Noninfectious Rashes. 2819 17