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Volker Schuster - One of the best experts on this subject based on the ideXlab platform.
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Type I plasminogen deficiency with unexpected clinical aspects: Could be more than coexistence?
Taylor & Francis Group, 2017Co-Authors: Şule Altıner, Volker Schuster, Jürgen Klammt, Matthias K. Bernhard, Halil Gürhan KarabulutAbstract:Type I plasminogen deficiency is a rare autosomal recessive systemic disorder. It usually starts in infancy and is clinically characterized by chronic mucosal pseudomembranous lesions which contain largely fibrin due to diminished extracellular plasmin mediated fibrinolysis. The most common clinical manifestation occurs in conjunctiva and therefore the disease is also named as Ligneous Conjunctivitis. Though type I plasminogen deficiency is known to cause female infertility due to genital tract inflammation and destruction, no male infertile patient with Ligneous Conjunctivitis was reported to date. In this case report, two siblings, both had Ligneous Conjunctivitis and gingivitis are presented. The male patient had primary infertility and his sister who was also infertile had neuroendocrine carcinoma. Both of the patients were found to be homozygous for PLG gene IVS6 + 1 G > A (c.668 + 1G > A) mutation. Plasmin and fibrinolysis pathway play important role in male infertility and our patient’s infertility could be due to type I plasminogen deficiency
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Congenital hydrocephalus as a rare association with Ligneous Conjunctivitis and type I plasminogen deficiency.
Neuropediatrics, 2005Co-Authors: Ayse Tana Aslan, Ugur Ozcelik, Deniz Dogru, A. Olmez, G. Turanli, E. Yalcin, Nural Kiper, K. Tefs, Volker SchusterAbstract:Severe type I plasminogen deficiency is the underlying cause of Ligneous Conjunctivitis (LC). Furthermore, pseudomembranes may also be found on other mucous membranes (gastrointestinal tract, bronchial system, genital tract). In very rare cases, congenital hydrocephalus has been associated with the more severe forms of the disease and may even precede LC. The pathophysiological mechanism is unclear at present. It is advisable to look for plasminogen deficiency in patients with congenital hydrocephalus, because obstruction of ventriculoperitoneal shunts is possible when such a condition is overlooked. Here, we report a case of LC with hydrocephalus. This report reemphasizes the association of LC with hydrocephalus which is not well known.
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Ligneous Conjunctivitis, hydrocephalus, hydrocele, and pulmonary involvement in a child with homozygous type I plasminogen deficiency
European Journal of Pediatrics, 2003Co-Authors: Ergin Çiftçi, Katrin Tefs, Ülker Doğru, Nejat Akar, Erdal Ince, Volker SchusterAbstract:Ligneous Conjunctivitis is a rare and unusual form of chronic pseudomembranous Conjunctivitis which usually starts in early infancy. Plasminogen deficiency has recently been associated with Ligneous Conjunctivitis. The disease may be associated with pseudomembranous lesions of other mucous membranes in the mouth, nasopharynx, trachea, and female genital tract and also with congenital hydrocephalus. In this report, a 1-month-old Turkish boy who had pseudomembranous Conjunctivitis, occlusive hydrocephalus, and hydrocele is presented. After surgery for ventriculo-peritoneal shunt establishment, he developed inspiratory stridor, respiratory distress, and pulmonary atelectasis. Tracheal pseudomembranes were also demonstrated by bronchoscopy. Plasminogen antigen level and plasminogen activity were very low. Genomic DNA from the patient was screened for mutations in the plasminogen gene and a homozygous L650fsX652 mutation (deletion of 2081C) was detected. Both of his parents were heterozygous for this mutation. He died due to respiratory failure during follow-up. Conclusion: Ligneous Conjunctivitis related to type I plasminogen deficiency is relatively common in the Turkish population, however, mutations are heterogeneous and a common founder is unlikely.
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Pulmonary involvement in a child with Ligneous Conjunctivitis and homozygous type I plasminogen deficiency.
Pediatric pulmonology, 2001Co-Authors: Ozçelik U, Deniz Anadol, Nural Kiper, Zuhal Akçören, Mehmet Orhon, Ayhan Göçmen, Murat Irkec, Volker SchusterAbstract:Ligneous Conjunctivitis (LC) is a rare disorder characterized by a chronic course of recurrent membranous lesions at conjunctivae. Pseudomembranes of other mucous membranes have been reported in patients with LC, but to the best of our knowledge, no case with alveolar involvement has been described. Here, we report a 2.5-year-old girl with LC who had tracheoaveolar involvement and homozygous type I plasminogen deficiency. Tracheal involvement was diagnosed by bronchoscopic biopsy and alveolar involvement with postmortem biopsy. She was shown to be homozygous for frameshift mutation in plasminogen exon 14 (Gly565ins-G) with molecular genetic examination of DNA which was obtained from parafin embedded postmortem lung tissue. Ligneous inflammation of the upper and lower respiratory tract must be considered in children with LC and recurrent respiratory tract problems.
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Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of Ligneous Conjunctivitis.
Thrombosis and haemostasis, 2001Co-Authors: Volker Schuster, Annemarie Mingers, P. Zeitler, Stefan Seregard, Ugur Ozcelik, Deniz Anadol, Lori Luchtman-jones, Francoise Meire, Christian M. Schambeck, Hans Wolfgang KrethAbstract:Severe type I plasminogen deficiency has been recently linked to Ligneous Conjunctivitis, a rare and uncommon form of chronic Conjunctivitis. In this study, eight unrelated Ligneous Conjunctivitis patients living in different parts of the world were examined. All affected subjects from which plasma was available displayed absent or markedly reduced plasminogen antigen and plasminogen functional activity. Molecular genetic studies of seven patients identified a Lys19→ Glu mutation in two boys in a homozygous state, and in two girls in a compound-heterozygous state in which the second plasminogen gene carried a missense (Arg134→ Lys) and a nonsense mutation (Cys133→ Stop), respectively. A fifth patient was shown to be homozygous for a frameshift mutation in plasminogen exon 14 (Gly565 ins-G). In two unrelated subjects with Ligneous Conjunctivitis no mutations in the plasminogen gene were identified. Our results suggest that the Lys19→ Glu mutation is the most prevalent mutation in the plasminogen gene of patients with Ligneous Conjunctivitis.
Khalid F. Tabbara - One of the best experts on this subject based on the ideXlab platform.
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Prevention of Ligneous Conjunctivitis by topical and subconjunctival fresh frozen plasma
American Journal of Ophthalmology, 2004Co-Authors: Khalid F. TabbaraAbstract:PURPOSE: To present a case of Ligneous Conjunctivitis where the recurrence of membranous Conjunctivitis was prevented by subconjunctival and topical instillation of fresh frozen plasma. DESIGN: Interventional case report. METHODS: A case of Ligneous Conjunctivitis with multiple recurrences since the age of 3 years developed recurrent membranous Conjunctivitis after transconjunctival levator recession. Blood plasminogen activity was determined. The membrane was excised, and the membrane reappeared 4 days later. The patient was treated with excision of the membrane and subconjunctival injection of fresh frozen plasma and topical fresh frozen plasma. Plasminogen activity of the fresh frozen plasma was normal. RESULTS: Plasminogen blood functional activity was 52% (normal is 80%-120%). The patient had complete remission with no recurrences of membranous Conjunctivitis after topical and subconjunctival fresh frozen plasma. CONCLUSIONS: Prophylactic use of topical and subconjunctival fresh frozen plasma may help in the prevention of membranes in susceptible patients with plasminogen deficiency.
Hans Wolfgang Kreth - One of the best experts on this subject based on the ideXlab platform.
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Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of Ligneous Conjunctivitis.
Thrombosis and haemostasis, 2001Co-Authors: Volker Schuster, Annemarie Mingers, P. Zeitler, Stefan Seregard, Ugur Ozcelik, Deniz Anadol, Lori Luchtman-jones, Francoise Meire, Christian M. Schambeck, Hans Wolfgang KrethAbstract:Severe type I plasminogen deficiency has been recently linked to Ligneous Conjunctivitis, a rare and uncommon form of chronic Conjunctivitis. In this study, eight unrelated Ligneous Conjunctivitis patients living in different parts of the world were examined. All affected subjects from which plasma was available displayed absent or markedly reduced plasminogen antigen and plasminogen functional activity. Molecular genetic studies of seven patients identified a Lys19→ Glu mutation in two boys in a homozygous state, and in two girls in a compound-heterozygous state in which the second plasminogen gene carried a missense (Arg134→ Lys) and a nonsense mutation (Cys133→ Stop), respectively. A fifth patient was shown to be homozygous for a frameshift mutation in plasminogen exon 14 (Gly565 ins-G). In two unrelated subjects with Ligneous Conjunctivitis no mutations in the plasminogen gene were identified. Our results suggest that the Lys19→ Glu mutation is the most prevalent mutation in the plasminogen gene of patients with Ligneous Conjunctivitis.
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Human homozygous type I plasminogen deficiency and Ligneous Conjunctivitis.
APMIS : acta pathologica microbiologica et immunologica Scandinavica, 1999Co-Authors: Annemarie Mingers, Volker Schuster, P. Zeitler, Anton Philapitsch, Hans Peter Schwarz, Hans Wolfgang KrethAbstract:On the basis of a questionnaire sent to the ophthalmology departments of hospitals throughout Germany, 10 patients with Ligneous Conjunctivitis or pseudomembranous disease, ranging in age from 1 to 71 years were identified. All 10 patients had severely reduced plasminogen levels. Genetic analysis revealed homozygous type I plasminogen deficiency (which had not previously been described in humans) in 7 patients and compound heterozygous plasminogen deficiency in 1 patient. Clear differentiation was not possible in 2 patients. Most of the parents had heterozygous plasminogen deficiency. None of the patients had experienced any episodes of thrombosis. Additionally, the following observations were made: 1) Levels of polymorphonuclear (PMN)-elastase protein were markedly elevated in 6 of 6 patients and 10 of 11 parents tested, and levels were higher in homozygotes than in heterozygotes. 2) Hereditary factor XII deficiency was found in 3 of 6 patients tested. 3) C1-inhibitor was elevated in 2 of 4 patients, prekallikrein was elevated in 1 of 4 patients, and plasminogen activator inhibitor type 1 was elevated in 1 of 4 patients. Infusions of lys-plasminogen concentrate induced pronounced fibrinolytic activity as indicated by high levels of D-dimer, increases in plasmin-antiplasmin complex and decreases in polymorphonuclear elastase. C1-inhibitor, prekallikrein and PAI-1 normalized after repeated infusions of lys-plasminogen. In contrast to dysplasminogenemia, severe type I plasminogen deficiency might be seen as a problem of extravascular space, in particular of the mucous membranes, possibly triggered by mechanically induced or inflammatory lesions of the vessels supplying the tissue.
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Polymorphonuclear elastase in patients with homozygous type I plasminogen deficiency and Ligneous Conjunctivitis.
Seminars in thrombosis and hemostasis, 1998Co-Authors: Annemarie Mingers, P. Zeitler, Anton Philapitsch, Hans Peter Schwarz, Hans Wolfgang KrethAbstract:Laboratory studies were performed on six female patients (ranging in age from 1 to 31 years) with Ligneous Conjunctivitis, which we regard as a systemic condition consisting of Ligneous Conjunctivitis and other pseudomembranous lesions. Plasminogen levels were severely reduced in all six patients; five patients were homozygous, and one patient was double heterozygous for type I plasminogen deficiency. Of family members tested, 11 of 12 parents and two of six siblings tested were diagnosed as heterozygous. No thrombotic episodes had occurred in any of the patients. Polymorphonuclear (PMN) elastase protein levels were markedly elevated in all, significantly more so in the homozygous patients (range 88 to 335 ng/mL; normal range, 20+/-10 ng/mL) than in the heterozygous patient (58 ng/mL). Of 11 parents examined, only 1 mother had normal PMN elastase (27 ng/mL, with plasminogen antigen 60% and plasminogen functional activity 86%), whereas values were moderately elevated (range 42 to 110 ng/mL) in the other 10 parents examined. After plasminogen substitution, PMN elastase levels consistently decreased but did not reach normal values. We interpret our findings as indicating that non-plasmin-induced fibrinolytic processes, possibly mediated via elastase, may be intensified in patients with plasminogen deficiency.
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homozygous mutations in the plasminogen gene of two unrelated girls with Ligneous Conjunctivitis
Blood, 1997Co-Authors: Volker Schuster, Tobias Pukrop, Annemarie Mingers, Zita Nussgens, Silvia Seidenspinner, Hans Wolfgang KrethAbstract:Ligneous Conjunctivitis is a rare and unusual form of chronic pseudomembranous Conjunctivitis that usually starts in early infancy. The disease may be associated with pseudomembranous lesions of other mucous membranes in the mouth, nasopharynx, trachea, and female genital tract. We examined two unrelated Turkish girls both suffering from Ligneous Conjunctivitis and occlusive hydrocephalus. Both children exhibited a severe plasminogen deficiency. Genomic DNA from both patients as well as from clinically healthy family members were screened for mutations in the plasminogen gene by polymerase chain reaction, single-strand conformation polymorphism (SSCP) analysis, and DNA sequencing. In the first girl with Ligneous Conjunctivitis a homozygous G → A point mutation was identified in plasminogen exon 7 at position 780 leading to an amino acid exchange (Arg216 → His). Her healthy sister and her healthy parents were heterozygous for this mutation. The second patient revealed a homozygous G → A point mutation in plasminogen exon 15 at position 1924 which leads to a stopcodon (Trp597 → Stop). The healthy parents were shown to be heterozygous for this mutation. In addition, the father's second allele revealed another mutation in the same codon (Trp597 → Cys) (compound heterozygosity). In conclusion, certain homozygous mutations in the plasminogen gene may cause Ligneous Conjunctivitis.
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HOMOZYGOUS TYPE I PLASMINOGEN (PLG) DEFICIENCY AS A CAUSE OF Ligneous Conjunctivitis. LABORATORY AND MOLECULAR GENETIC STUDIES IN 4 UNRELATED TURKISH GIRLS. 182
Pediatric Research, 1997Co-Authors: Volker Schuster, Annemarie Mingers, Philip Zeitler, Hans Wolfgang KrethAbstract:HOMOZYGOUS TYPE I PLASMINOGEN (PLG) DEFICIENCY AS A CAUSE OF Ligneous Conjunctivitis. LABORATORY AND MOLECULAR GENETIC STUDIES IN 4 UNRELATED TURKISH GIRLS. 182
Annemarie Mingers - One of the best experts on this subject based on the ideXlab platform.
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Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of Ligneous Conjunctivitis.
Thrombosis and haemostasis, 2001Co-Authors: Volker Schuster, Annemarie Mingers, P. Zeitler, Stefan Seregard, Ugur Ozcelik, Deniz Anadol, Lori Luchtman-jones, Francoise Meire, Christian M. Schambeck, Hans Wolfgang KrethAbstract:Severe type I plasminogen deficiency has been recently linked to Ligneous Conjunctivitis, a rare and uncommon form of chronic Conjunctivitis. In this study, eight unrelated Ligneous Conjunctivitis patients living in different parts of the world were examined. All affected subjects from which plasma was available displayed absent or markedly reduced plasminogen antigen and plasminogen functional activity. Molecular genetic studies of seven patients identified a Lys19→ Glu mutation in two boys in a homozygous state, and in two girls in a compound-heterozygous state in which the second plasminogen gene carried a missense (Arg134→ Lys) and a nonsense mutation (Cys133→ Stop), respectively. A fifth patient was shown to be homozygous for a frameshift mutation in plasminogen exon 14 (Gly565 ins-G). In two unrelated subjects with Ligneous Conjunctivitis no mutations in the plasminogen gene were identified. Our results suggest that the Lys19→ Glu mutation is the most prevalent mutation in the plasminogen gene of patients with Ligneous Conjunctivitis.
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Human homozygous type I plasminogen deficiency and Ligneous Conjunctivitis.
APMIS : acta pathologica microbiologica et immunologica Scandinavica, 1999Co-Authors: Annemarie Mingers, Volker Schuster, P. Zeitler, Anton Philapitsch, Hans Peter Schwarz, Hans Wolfgang KrethAbstract:On the basis of a questionnaire sent to the ophthalmology departments of hospitals throughout Germany, 10 patients with Ligneous Conjunctivitis or pseudomembranous disease, ranging in age from 1 to 71 years were identified. All 10 patients had severely reduced plasminogen levels. Genetic analysis revealed homozygous type I plasminogen deficiency (which had not previously been described in humans) in 7 patients and compound heterozygous plasminogen deficiency in 1 patient. Clear differentiation was not possible in 2 patients. Most of the parents had heterozygous plasminogen deficiency. None of the patients had experienced any episodes of thrombosis. Additionally, the following observations were made: 1) Levels of polymorphonuclear (PMN)-elastase protein were markedly elevated in 6 of 6 patients and 10 of 11 parents tested, and levels were higher in homozygotes than in heterozygotes. 2) Hereditary factor XII deficiency was found in 3 of 6 patients tested. 3) C1-inhibitor was elevated in 2 of 4 patients, prekallikrein was elevated in 1 of 4 patients, and plasminogen activator inhibitor type 1 was elevated in 1 of 4 patients. Infusions of lys-plasminogen concentrate induced pronounced fibrinolytic activity as indicated by high levels of D-dimer, increases in plasmin-antiplasmin complex and decreases in polymorphonuclear elastase. C1-inhibitor, prekallikrein and PAI-1 normalized after repeated infusions of lys-plasminogen. In contrast to dysplasminogenemia, severe type I plasminogen deficiency might be seen as a problem of extravascular space, in particular of the mucous membranes, possibly triggered by mechanically induced or inflammatory lesions of the vessels supplying the tissue.
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therapy with a purified plasminogen concentrate in an infant with Ligneous Conjunctivitis and homozygous plasminogen deficiency
The New England Journal of Medicine, 1998Co-Authors: Dorothee Schott, Carl-erik Dempfle, Andreas Liermann, Anita Mohrpennert, Peter Mehlem, Peter Beck, Michael Goldner, Hiroyuki Azuma, Volker Schuster, Annemarie MingersAbstract:Ligneous Conjunctivitis is a rare disease characterized by acute or chronic recurrent Conjunctivitis in which the conjunctival membranes acquire a wood-like consistency, due primarily to deposits of fibrin.1,2 Corneal involvement and chronic obstruction of the eye may lead to blindness. The disease is frequently associated with nasopharyngitis, tracheobronchial obstruction, otitis media, vulvovaginitis, and defective wound healing.2–9 Pseudomembranous Conjunctivitis was first described in 1847 by Bouisson,10 and the term “Conjunctivitis lignosa” was introduced by Borel in 1933.11 More than 100 cases have been reported in the literature, but no satisfactory treatment has yet been found. The results of therapy . . .
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Polymorphonuclear elastase in patients with homozygous type I plasminogen deficiency and Ligneous Conjunctivitis.
Seminars in thrombosis and hemostasis, 1998Co-Authors: Annemarie Mingers, P. Zeitler, Anton Philapitsch, Hans Peter Schwarz, Hans Wolfgang KrethAbstract:Laboratory studies were performed on six female patients (ranging in age from 1 to 31 years) with Ligneous Conjunctivitis, which we regard as a systemic condition consisting of Ligneous Conjunctivitis and other pseudomembranous lesions. Plasminogen levels were severely reduced in all six patients; five patients were homozygous, and one patient was double heterozygous for type I plasminogen deficiency. Of family members tested, 11 of 12 parents and two of six siblings tested were diagnosed as heterozygous. No thrombotic episodes had occurred in any of the patients. Polymorphonuclear (PMN) elastase protein levels were markedly elevated in all, significantly more so in the homozygous patients (range 88 to 335 ng/mL; normal range, 20+/-10 ng/mL) than in the heterozygous patient (58 ng/mL). Of 11 parents examined, only 1 mother had normal PMN elastase (27 ng/mL, with plasminogen antigen 60% and plasminogen functional activity 86%), whereas values were moderately elevated (range 42 to 110 ng/mL) in the other 10 parents examined. After plasminogen substitution, PMN elastase levels consistently decreased but did not reach normal values. We interpret our findings as indicating that non-plasmin-induced fibrinolytic processes, possibly mediated via elastase, may be intensified in patients with plasminogen deficiency.
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homozygous mutations in the plasminogen gene of two unrelated girls with Ligneous Conjunctivitis
Blood, 1997Co-Authors: Volker Schuster, Tobias Pukrop, Annemarie Mingers, Zita Nussgens, Silvia Seidenspinner, Hans Wolfgang KrethAbstract:Ligneous Conjunctivitis is a rare and unusual form of chronic pseudomembranous Conjunctivitis that usually starts in early infancy. The disease may be associated with pseudomembranous lesions of other mucous membranes in the mouth, nasopharynx, trachea, and female genital tract. We examined two unrelated Turkish girls both suffering from Ligneous Conjunctivitis and occlusive hydrocephalus. Both children exhibited a severe plasminogen deficiency. Genomic DNA from both patients as well as from clinically healthy family members were screened for mutations in the plasminogen gene by polymerase chain reaction, single-strand conformation polymorphism (SSCP) analysis, and DNA sequencing. In the first girl with Ligneous Conjunctivitis a homozygous G → A point mutation was identified in plasminogen exon 7 at position 780 leading to an amino acid exchange (Arg216 → His). Her healthy sister and her healthy parents were heterozygous for this mutation. The second patient revealed a homozygous G → A point mutation in plasminogen exon 15 at position 1924 which leads to a stopcodon (Trp597 → Stop). The healthy parents were shown to be heterozygous for this mutation. In addition, the father's second allele revealed another mutation in the same codon (Trp597 → Cys) (compound heterozygosity). In conclusion, certain homozygous mutations in the plasminogen gene may cause Ligneous Conjunctivitis.
I Cochereau - One of the best experts on this subject based on the ideXlab platform.
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Treatment of Ligneous conjunctivits with subconjunctival fresh frozen plasma (ffp): about three severe cases
Acta Ophthalmologica, 2012Co-Authors: E Gabison, Serge Doan, N Ajzenberg, I CochereauAbstract:Purpose Ligneous Conjunctivitis is a rare type of chronic membranous Conjunctivitis. It is inherited as an autosomal recessive disorder, with low plasminogen levels reported in both homozygous and heterozygous individuals Methods we describe the clinical features and response to subconjunctival FRESH FROZEN PLASMA (FFP) in three patients with severe Ligneous Conjunctivitis with a mean follow-up of 12 months, among 15 patients followed in our department for the past 10 years. Results All our cases had bilateral ocular involvement except. They were all treated with subconjunctival injection of FFP after resection of the membranes. Topical heparin and rimexolone application was continued 1 month after surgery. As the case 2 presented a corneal perforation during the course of the disease, he was also treated with multiple inlay amniotic membrane graft. Conclusion FFP shortens the treatment period, reduces the probability of mid-term recurrences and is a good alternative to a long-term topical treatment with Heparin and steroid.