Ligneous conjunctivitis, hydrocephalus, hydrocele, and pulmonary involvement in a child with homozygous type I plasminogen deficiency

European Journal of Pediatrics

Volumn 162, Issue 7-8, 2003, Pages 462-465

  Çiftçi, Ergin ^a   Ince, Erdal ^a   Akar, Nejat ^a   Dogru, Ülker ^a   Tefs, Katrin ^b   Schuster, Volker ^b  

^a ANKARA UNIVERSITY   (Turkey)

^b UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

Hydrocele; Hydrocephalus; Ligneous conjunctivitis; Plasminogen deficiency; Respiratory distress

Indexed keywords

PLASMINOGEN; PLASMINOGEN TYPE 1; UNCLASSIFIED DRUG;

ARTICLE; ATELECTASIS; BRAIN VENTRICLE PERITONEUM SHUNT; BRONCHOSCOPY; CASE REPORT; CLINICAL FEATURE; CONJUNCTIVITIS; DISEASE ASSOCIATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE GENITAL SYSTEM; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYDROCELE; HYDROCEPHALUS; INFANT; LUNG DISEASE; MALE; MOUTH; MUCOSA; NASOPHARYNX; PLASMINOGEN TYPE 1 DEFICIENCY; POLYMERASE CHAIN REACTION; POSTOPERATIVE COMPLICATION; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SINGLE STRAND CONFORMATION POLYMORPHISM; TRACHEA; TRACHEA DISEASE; TRACHEA PSEUDOMEMBRANE;

CHROMOSOME DELETION; CONJUNCTIVITIS; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; MALE; PLASMINOGEN;

EID: 0041846941     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1205-z     Document Type: Article

References (29)

1. 572 to Pro mutation. Blood 82: 475-480
2. Babcock MF, Bedford RF, Berry FA (1987) Ligneous tracheobronchitis: an unusual cause of airway obstruction. Anesthesiology 67: 819-821
3. Bateman JB, Pettit TH, Isenberg SJ, Simons KB (1986) Ligneous conjunctivitis: an autosomal recessive disorder. J Pediatr Ophthalmol Strabismus 23: 137-140
4. Borel MG (1933) Un nouveau syndrome palpébral. Bull Soc Ophthalmol Fr 46: 168-180
5. Bouisson M (1847) Ophthalmie sur-aigue avec formation de pseudomembranes à la surface de la conjonctive. Ann Ocul 17: 100-104
6. Cooper TJ, Kazdan JJ, Cutz E (1979) Ligneous conjunctivitis with tracheal obstruction: a case report with light and electron microscopy findings. Can J Ophthalmol 14: 57-62
7. De Cock R, Ficker LA, Dart JG, Garner A, Wright V (1995) Topical heparin in the treatment of ligneous conjunctivitis. Ophthalmology 102: 1654-1659
8. Drew AF, Kaufman AH, Kombrinck KW, Danton MJS, Daugherty CC, Degen JL, Bugge TH (1998) Ligneous conjunctivitis in plasminogen-deficient mice. Blood 91: 1616-1624
9. Firat T (1974) Ligneous conjunctivitis. Am J Ophthalmol 78: 679-688
10. Firat T, Tinaztepe B (1970) Histochemical investigations on ligneous conjunctivitis and a new method of treatment. Acta Ophthalmol (Copenh) 48: 3-13
11. Francois J, Victoria-Troncoso V (1968) Treatment of ligneous conjunctivitis. Am J Ophthalmol 65: 674-678
12. Günhan Ö, Günhan M, Berker E, Gürgan CA, Yildirim H (1999) Destructive membranous periodontal disease (Ligneous peridontitis). J Periodontol 70: 919-925
13. Hidayat AA, Riddle PJ (1987) Ligneous conjunctivitis: a clinicopathologic study of 17 cases. Ophthalmology 94: 949-959
14. Kao WW, Kao CW, Kaufman AH, Kombirnck KW, Converse RL, Good WV, Bugge TH, Degen JL (1998) Healing of corneal epithelial defects in plasminogen- and fibrinogen-deficient mice. Invest Ophthalmol Vis Sci 39: 502-508
15. Machovich R, Owen WG (1990) The elastase-mediated pathway of fibrinolysis. Blood Coagul Fibrinolysis 1: 79-90
16. Marcus DM, Walton D, Donshik P, Choo L, Newman RA, Albert DM (1990) Ligneous conjunctivitis with ear involvement. Arch Ophthalmol 108: 514-519
17. Mingers AM, Heimburger N, Zeitler P, Kreth HW, Schuster V (1997) Homozygous type I plasminogen deficiency. Semin Thromb Hemost 23: 259-269
18. Mingers AM, Philapitsch A, Zeitler P, Schuster V, Schwarz HP, Kreth HW (1999) Human homozygous type I plasminogen deficiency and ligneous conjunctivitis. APMIS 107: 62-72
19. Nussgens Z, Roggenkamper P (1993) Ligneous conjunctivitis: ten years follow-up. Ophthalmic Paediatr Genet 14: 137-140
20. Ozcelik U, Akcoren Z, Anadol D, Kiper N, Orhon M, Gocmen A, Irkec M, Schuster V (2001) Pulmonary involvement in a child with ligneous conjunctivitis and homozygous type I plasminogen deficiency. Pediatr Pulmonol 32: 179-183
21. Petersen TE, Martzen MR, Ichinose A, Davie EW (1990) Characterization of the gene for human plasminogen, a key proenzyme in the fibrinolytic system. J Biol Chem 265: 6104-6111
22. Schott D, Dempfle CE, Beck P, Liermann A, Mohr-Pennert A, Goldner M, Mehlem P, Azuma H, Schuster V, Mingers AM, Schwarz HP, Kramer MD (1998) Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency. N Engl J Med 339: 1679-1686
23. Schuster V, Mingers AM, Seidenspinner S, Nussengens Z, Pukrop T, Kreth HW (1997) Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. Blood 90: 958-966
24. Schuster V, Seidenspinner S, Zeitler P, Escher C, Pleyer U, Bernauer W, Stiehm ER, Isenberg S, Seregard S, Olsson T, Mingers AM, Schambeck C, Kreth HW (1999) Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis. Blood 93: 3457-3466
25. Schuster V, Zeitler P, Seregard S, Ozcelik U, Anadol D, Luchtman-Jones L, Meire F, Mingers AM, Schambeck C, Kreth HW (2001) Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of ligneous conjunctivitis. Thromb Haemost 85: 1004-1010
26. Schwartz GS, Holland EJ (1995) Induction of ligneous conjunctivitis by conjunctival surgery. Am J Ophthalmol 120: 253-254
27. Scurry J, Planner R, Fortune DW, Lee CS, Rode J (1993) Ligneous (pseudomembranous) inflammation of the female genital tract: a report of two cases J Reprod Med 38: 407-412
28. Simon DI, Ezratty AM, Francis SA, Rennke H, Loscalzo J (1993) Fibrin(ogen) is internalized and degraded by activated human monocytoid cells via Mac-1 (CD11b/CD18): a nonplasmin fibrinolytic pathway. Blood 82: 2414-2422
29. Watts P, Suresh P, Mezer E, Ells A, Albisetti M, Bajzar L, Marzinotto V, Andrew M, Massicotle P, Rootman D (2002) Effective treatment of ligneous conjunctivitis with topical plasminogen. Am J Ophthalmol 133: 451-455