1/4. Ligneous conjunctivitis: biochemical evidence for hypofibrinolysis.Ligneous conjunctivitis (LC) is a rare disease of unknown etiology characterized by the growth of "woody" plaques on ocular and extraocular mucosa. These lesions are comprised of fibrin and both direct and indirect evidence implicates hypofibrinolysis as the primary defect in LC. To further elucidate the pathophysiology of LC we investigated the biochemical aspects of ligneous lesions with respect to the fibrinolytic system. Ligneous lesions were obtained from the right eye of a 15 year-old female patient with longstanding LC since age 2.5 year. Ligneous conjunctivitis in this patient has exhibited a chronic recurrent coarse and has involved multiple muscosal sites. Samples analyzed included an abundant mucoid thread from the conjunctival fornix and the ligneous plaque attached to the inferior tarsus. Samples were analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) to characterize protein profiles and by a variety of zymographic methods to visualize fibrinolytic enzymes. We found that mucoid and ligneous samples were distinct entities. Specifically, ligneous samples contained polypeptides with electrophoretic profiles characteristic of intact fibrin, and were replete in fibrin-bound tissue plasminogen activator (t-PA). Despite the presence of ample t-PA, ligneous samples were essentially devoid of fibrinolytic activity. In contrast, neither proteins nor t-PA could be detected in mucoid samples when fractionated by 7.5-15% SDS-PAGE or analyzed by fibrin zymography, respectively. Despite the absence of t-PA, mucoid samples were replete in fibrinolytic activity. This activity was plasminogen independent, heterogenous and inhibited by PMSF. Degradation profiles suggested that this activity represented in part alpha-chymotrypsin, consistent with this patient's treatment regime, as well as plasmin, elastase and an unidentified neutrophil-derived activity. Interestingly, ligneous samples contained both latent and activated forms of matrix metalloproteinase-9 (MMP-9), whereas mucoid samples contained predominantly activated forms of MMP-9. LC is characterized by defective fibrinolysis, despite the presence of ample t-PA and intact fibrin, and by an abundant mucoid thread which binds both endogenous and exogenous enzymes including serine protease(s) and collagenase(s). The implications of these results with respect to a role for exuberant mucus production or abnormal mucins in the development of a relative mucosal-site specific plasmin(ogen) deficiency is discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/4. Contraceptive pills induce an improvement in congenital hypoplasminogenemia in two unrelated patients with ligneous conjunctivitis.Severe type I plasminogen deficiency is the underlying cause of ligneous conjunctivitis, a rare disease characterized by wood-like pseudomembranes developing on the ocular and extraocular mucosa. Two unrelated female patients with ligneous conjunctivitis and moderate hypoplasminogenemia are described. Being of fertile age, they were treated with oral contraceptives, which determined a marked increase in plasminogen levels. Moreover, a palpebral pseudomembrane stopped growing in one patient and disappeared completely in the other while on the estroprogestinic treatment. In patient n. 2, who also suffered from von Willebrand's disease, prior Cushing's disease induced an increase in both von willebrand factor and plasminogen levels, which dropped after curative hypophysectomy. Genetic plasminogen study showed a 19Lys>Glu mutation in a heterozygous state in the first proposita and in a homozygous state in the second proband. In addition, both index patients were homozygous for a new intron F-14T>G mutation, which was found to reduce the acceptor splicing site prediction score. In conclusion, oral contraceptive therapy may improve plasminogen deficiency and deserves attention as an alternative therapeutic approach in selected cases of ligneous conjunctivitis with low, but not absent, plasminogen synthesis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/4. Infantile periarteritis nodosa or mucocutaneous lymph node syndrome. A report on four cases and diagnostic considerations.Coronary artery aneurysm in childhood is a rare disease and has in most cases been ascribed to infantile periarteritis nodosa (IPN). In recent years a mucocutaneous lymph node syndrom (MLNS) has been found almost exclusively in japan first described by Kawasaki 1967; this disease frequently involves the coronary arteries and myocardium. Four cases with coronary aneurysms are presented from sweden and seem to be first described from scandinavia. Three of these patients died a sudden death with cardiac arrest. Since MLNS and IPN have identical clinical and pathological features, we suggest that MLNS and IPN constitute a pathologic entity and that to separate them on a clinical or histological basis is nonsensical. The risk of coronary aneurysm and possible sudden death must be considered in patients with uncharacteristic symptoms including prolonged fever, conjunctivitis, exanthema, lesions in the oral mucosa, elevated sedimintation rate, and leukocytosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/4. Ligneous conjunctivitis: an ophthalmic disease with potentially fatal tracheobronchial obstruction. Laryngeal and tracheobronchial features.Ligneous conjunctivitis is a rare disease of unknown cause characterized by pseudomembranous, fibrous, woody, plaquelike deposits on the conjunctiva. The disease appears to be hereditary and/or familial. Deposits similar to those found in the eye occur in the larynx, tracheobronchial tree, nose and nasopharynx, and vagina. When these lesions occur in the larynx and tracheobronchial tree, voice change and potentially life-threatening obstruction and pulmonary disease may occur. This paper reports the findings in a child with ligneous conjunctivitis who was followed for 1 1/2 years and who had laryngeal and tracheobronchial involvement with voice change and airway obstruction. The literature is reviewed and the histopathologic findings and endoscopic findings and management of the patient are documented. Because the patient had multiple papillomata of both hands, a possible association with human papillomavirus was suspected but never confirmed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |