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)

Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles. Central nervous system vasculitis is a prominent cause of childhood strokes. 10 families with familial chilblain lupus related to TREX1 mutations were reported previously in the literature, in which homozygote D18N variant in TREX1 gene was related to chilblains with cerebral vasculitis. In this report, whole-exome-sequencing revealed a homozygote R114C mutation in TREX1 gene was shown in two siblings with recurrent chilblains whom one of them was the second case accompanied by cerebral vasculitis in the literature. As a result, the approach of WES in clinical use revealed a novel mutation in clinically heterogenous patients to provide genetic counseling.
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PMID:A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis. 2891 62

Lupus vulgaris is a common form of cutaneous tuberculosis in China, mostly involving the head and neck region. Turkey ear is a clinically descriptive term, used for a massively enlarged earlobe with bluish-red or violaceous indurated plaques and nodules, which can be a sign of lupus vulgaris. A 47-year-old female presented with edema and reddish ulcerated lesions on both ears which was diagnosed as lupus vulgaris by conventional laboratory investigations and the patient showed good response to antituberculous therapy. Occurrence of turkey ears in lupus pernio (sarcoidosis) should also be mentioned here as this presentation was originally described in this condition. Two case reports of turkey ear have been reported with cutaneous tuberculosis (not bilateral). However, occurrence of bilateral turkey ears in cutaneous tuberculosis has not been described so far in the literature.
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PMID:Bilateral "turkey ear" as a cutaneous manifestation of lupus vulgaris. 2953 81

Chilblain lupus erythematosus is a rare, chronic variant of cutaneous lupus erythematosus that occurs during cold or damp periods on the hands, fingers, or feet. It is often associated with other forms of cutaneous lupus and about 20% of patients develop systemic lupus erythematosus. Various medications have been put forward, including steroids, mycophenolate mofetil, calcium channel blockers, and hydroxychloroquine, but the symptoms do not remit completely.
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PMID:Chilblain Lupus with Nail Involvement: A Case Report and a Brief Overview. 3064 80

Sarcoidosis is a systemic granulomatous disease of unknown cause. Skin involvement may be specific lesions in which granulomas are detected on biopsy or nonspecific lesions without granulomatous inflammation on biopsy. Lupus pernio (LP) occurs in the form of smooth, bright nodules and plaques on the nose, ear, lips, and cheeks. Although presence of skin involvement is frequent, lupus perio is reported as a rare form of extrapulmonary sarcoidosis. A 57-year-old female patient applied to the dermatology outpatient clinic with a lesion on the nose. We report a case of chronic sarcoidosis presenting with lupus pernio with clinical and radiological improvement.
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PMID:A case of chronic sarcoidosis presenting with lupus pernio. 3210 65

Cutaneous tuberculosis occurs in 1-2% of world cases of tuberculosis and more common in tropical countries. It presents with different clinical forms. Unusual clinical presentations are not uncommon and awareness of these will help in suspecting and managing these patients successfully. Lupus pernio like lupus vulgaris, tuberculosis of glans penis and lichen scrofulosorum on the distal parts of limbs are presented here because of their unusual clinical presentation.
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PMID:Unusual presentations of cutaneous tuberculosis. 3282 89


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