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)

Thirty-five patients with lupus pernio have been observed in a series of 818 patients with clinical and histological evidence of sarcoidosis. This analysis provides the natural history of lupus pernio and its associated clinical and radiological features. It predominates in women, and particularly in West Indians. The chronic persistent violaceous skin lesions have a predilection for the nose, cheeks, lips, eyelids, ears and fingers, ranging from a few nodules under the tip of the nose to exuberant plaques spreading across the nose and both cheeks. There was intrathoracic involvement in 74% of patients, upper respiratory tract disease in 54%, reticulo-endothelial involvement in 54%, bone cysts in 43% and ocular lesions in 37%. It is distinguished from lupus vulgaris and lupus erythematosus by clinical features, histology and radiology.
Lupus 1992 May
PMID:Lupus pernio. 130 72

Chilblain lupus erythematosus is a chronic form of lupus erythematosus that is seen predominantly in women and first manifests itself during cold weather as painful purplish acral swellings. These symptoms and possible progression to systemic lupus erythematosus are discussed with regard to two cases. Patients with recurrent or persistent "chilblains" should be investigated histologically and serologically as well as by immunofluorescence.
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PMID:[Chilblain lupus erythematosus]. 318 75

Chilblain lupus erythematosus (CL) of Hutchinson is a subtype of lupus erythematosus (LE) characterized by erythematous lesions induced by cold, damp climates. A number of patients affected by CL eventually develop features of systemic lupus erythematosus (SLE). We report here 9 patients with chilblain cutaneous lesions, 6 of them were affected by SLE and 2 by SCLE. The onset of CL preceded the diagnosis of LE, from 1 to 10 years in 3 cases, it was concurrent in one case and was subsequent in the remaining 4 cases. Raynaud's phenomenon and photosensitivity were other prominent clinical features in patients with CL. Nailfold capillaroscopy revealed pathological changes in every patient examined. ANA and anti-SSA/Ro antibodies were detected in all nine patients. Anti-SSB/La were detected in 2 cases, anti-Sm in one case, and anti-Sm and anti-RNP in a one case. Antibodies to dsDNA and complement consumption were found in the six patients with SLE. The fine specificity of anti-SSA/Ro was determined by immunoblotting: anti-60kD and anti-52 kD were detected in three sera, anti-60kD alone in 5 sera, while one serum did not blot. In conclusion, the present study suggests that chilblain LE is associated with SSA/Ro autoantibodies, as is SCLE, hypergammaglobulinemic purpura and neonatal lupus erythematosus.
Lupus 1999
PMID:Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. 1034 14

We have evaluated the incidence of lupus erythematosus (LE)-specific skin disease in 186 patients with LE, seen retrospectively over a 10-year period at our Dermatology Department and determined the correlation of LE-nonspecific skin disease in patients with systemic involvement. Chronic cutaneous LE (CCLE) with classical discoid lesions (localized, 70%; generalized, 30%) was the most common cutaneous manifestation (72.5%). Subacute cutaneous LE (SCLE) represented only 8% of LE skin disease (annular-polycyclic type, 73%; papulo-squamous type, 27%). Acute cutaneous LE (ACLE) was detected in 15% of our patients: the butterfly erythema was the most frequent skin lesion (96%) while only one case of bullous LE and one case of widespread maculo-papular eruption in association with malar erythema were demonstrated. In 8 patients no LE-specific skin lesions (lupus sine lupo) were found. LE-nonspecific skin lesions were found in 31% of our patients with systemic LE (SLE): Raynaud's phenomenon was found in 23/58 (39.6%), cutaneous small vessel leukocytoclastic vasculitis in 8/58 (13.7%), nonscarring alopecia in 18/58 (31%), lupus pernio in 6/58 (10.3%), hemorrhagic lesions in 4/58 (6.8%), livedo reticularis in 5/58 (8.6%), mucosal ulcers in 3/58 (5.1%) and periungual telangiectasia in 12/58 (20.6%) SLE patients. LE-nonspecific skin lesions are detected only in patients with SLE and usually in the active phases of the disease.
Lupus 2000
PMID:The spectrum of cutaneous manifestations in lupus erythematosus--the Italian experience. 1098 45

A 49-years-old female admitted to our hospital because of skin eruptions on the extremities in 1985. She had suffered from polyarthralgia, skin eruptions since 1983. Physical examinations revealed discoid lesion, central nervous system involvement, and polyarthritis. Laboratory tests revealed leukopenia, thrombocytopenia, and hypocomplementemia. Antinuclear antibody, ant-DNA antibody, LE test were positive. From these findings, she was diagnosed as systemic lupus erythematosus (SLE). She developed lupus peritonitis in 1990 and 1994, which was successfully treated by steroid pulse therapy. Since then, the activity of SLE was in good control under administration of prednisolone 10 mg/day. Chilblain lupus was seen from 1993, Raynaud's phenomenon from 1996, and she further developed subcutaneous induration on her chest, back and upper extremities in 1999. Skin biopsy findings were compatible with lupus panniculitis. In 2002, erythematous patches with scales were observed on her right hand and left knee, and these skin lesions were histologically diagnosed as psoriasis vulgaris. An autoimmune response similar to SLE is speculated in psoriasis. We describe a rare case of SLE with various skin lesions including psoriasis vulgaris.
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PMID:[A case of systemic lupus erythematosus complicated with psoriasis vulgaris]. 1475 35

Chilblain lupus erythematosus with depigmentation is a rare presentation of lupus erythematosus that may simulate vitiligo. A 52-year-old lady with such a manifestation is being reported.
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PMID:Chilblain lupus erythematosus mimicking acrofacial vitiligo. 1764 33

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

Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3'-5' DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual clinical course of this newly defined genodermatosis in an 18-year-old female member of the family in which familial chilblain lupus was originally described.
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PMID:Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. 1947 77

Chilblain lupus or lupus pernio is a particular clinical type of cutaneous chronic lupus erythematosus, more frequently met in adults and difficult do diagnose without specific lesions at the level of the face and/or the scalp. The patient B.A., female, aged 16 is hospitalized in the Dermatological Clinic Iasi for some red-to-violaceous plaques, infiltrated, slightly scaling located around the nails and on the hands and legs finger sides. The lesions come up at the age of 13 become even more serious and painful in cold weather, getting better in the warm season when they become slightly pruriginous and are accompanied by a discrete facial erythema in "vespertilio", completely neglected by the patient. The general status was very good during this time, without general manifestations or visceral touches. The clinical diagnosis that was initially suggested, pernio, was afterwards denied by a detailed anamnesis, by laboratory testes (positive antinuclear antibodies, positive anti-double-stranded DNA antibodies) and by the histopathological examination of the biopsy from cutaneous lesions. The introduction of the antimalarial drugs (Plaquenil 200 mg/ day) associated with photoprotective creams, led to cure of cutaneous lesions.
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PMID:[Chilblain lupus in an adolescent]. 2020 Dec 46

Chilblain lupus erythematosus is a rare form of chronic cutaneous lupus erythematosus. It is characterised by purple plaques/nodules and oedematous skin mainly around the acral regions of the body, which are most exposed to the cold. In this paper we report a case of chilblain lupus erythematosus that was diagnosed using the Mayo Clinic Diagnostic Criteria and its successful treatment with hydroxychloroquine.
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PMID:Chilblain lupus erythematosus. 2428 7


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