Rare Diseases

Lymphogranuloma Venereum

6 Interesting Facts of Lymphogranuloma Venereum  Lymphogranuloma venereum is a sexually transmitted infection caused by specific serovars of Chlamydia trachomatis. With penile, urethral, or vulvar inoculation, the main presentation is an inguinal syndrome (also known as classic or bubonic lymphogranuloma venereum). With rectal inoculation, the main presentation is proctitis or proctocolitis (primarily in men who have sex with men), although …

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Still Disease

6 Interesting Facts of Still Disease 1. Still Disease consists of several subgroups with different clinical characteristics, pathogenesis, and responses to therapy. 2. Systemic JIA (sJIA) symptoms include quotidian fever, rash, and arthritis, which respond best to interleukin (IL)-1 and IL-6 inhibition. 3. Oligoarticular JIA is characterized by young age of onset, female predominance, positive antinuclear antibody (ANA) …

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Wegener Granulomatosis

10 Interesting Facts of Wegener Granulomatosis Granulomatosis with polyangiitis, formerly known as Wegener granulomatosis, is characterized by necrotizing granulomatous inflammation with necrotizing vasculitis affecting predominantly small to medium vessels in adults older than 55 years Primarily involves the upper and/or lower respiratory tract and kidneys; may also affect skin, eyes, central nervous system, joints, and …

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Granuloma Annulare

Granuloma Annulare  Granuloma annulare (GA) is a chronic, usually self-limited, inflammatory disorder of the dermis that classically presents as arciform to annular plaques located on the extremities. Synonyms Pseudorheumatoid nodule—subcutaneous granuloma annulare GA Epidemiology & Demographics •Most common in children and young adults; most cases of localized GA are diagnosed in patients <30 yr •Female …

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Goodpasture Syndrome

Goodpasture Syndrome Anti-glomerular basement membrane disease (anti-GBM disease), also known as Goodpasture disease, is a rare, autoimmune, small-vessel vasculitis affecting blood vessels of the lungs and kidneys that results in a pulmonary-renal syndrome. A pulmonary-renal syndrome is defined as the coexistence of pulmonary alveolar hemorrhage (i.e., triad of hemoptysis, diffuse alveolar infiltrates, and anemia) and …

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Glanzmann Thrombasthenia

9 Interesting Facts of Glanzmann Thrombasthenia  Glanzmann thrombasthenia is a rare bleeding disorder caused by defective platelet membrane glycoprotein IIb/IIIa (integrin αIIbβ3), resulting in failure of platelets to aggregate in response to stimuli Characterized by a lifelong tendency for mucocutaneous bleeding with an elevated risk of fatal bleeding episodes Symptoms, which often manifest shortly after …

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Gilbert Syndrome

8 Interesting Facts of Gilbert Syndrome Gilbert disease is a hereditary condition caused by a mild form of genetic deficiency of UDP-glucuronyl transferase 1A1 (UGT1A1), an enzyme metabolizing bilirubin through glucuronidation, resulting in impaired bilirubin metabolism and clearance Characterized by intermittent, mild, asymptomatic jaundice in the absence of hemolysis or underlying liver disease Laboratory tests …

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