Homozygous Mutations in the Plasminogen Gene of Two Unrelated Girls With Ligneous Conjunctivitis
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منابع مشابه
RAPID COMMUNICATION Homozygous Mutations in the Plasminogen Gene of Two Unrelated Girls With Ligneous Conjunctivitis
Ligneous conjunctivitis is a rare and unusual form of chronic homozygous G r A point mutation was identified in plasminogen exon 7 at position 780 leading to an amino acid pseudomembranous conjunctivitis that usually starts in early infancy. The disease may be associated with pseudoexchange (Arg216 r His). Her healthy sister and her healthy parents were heterozygous for this mutation. The secon...
متن کاملHomozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis.
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...
متن کاملCompound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less than 0.4, less than 0.4, and 2.4 mg/dL, respectively, but had plasminogen functional residual activity of 17%, 18%, a...
متن کاملLigneous conjunctivitis in plasminogen-deficient mice.
Ligneous conjunctivitis is a rare form of chronic pseudomembranous conjunctivitis that is associated with systemic membranous pathological changes. A probable link between plasminogen and ligneous conjunctivitis has been indicated by the recent diagnoses of plasminogen deficiency in five patients suffering from ligneous conjunctivitis. The current study reports that plasminogen-deficient mice d...
متن کاملClinical and histopathological aspects in two cases of ligneous conjunctivitis.
Ligneous conjunctivitis represents a very rare form of chronic membranous conjunctivitis, with unknown etiology; less than 200 cases have been reported in the literature, most of them in infants and children. After 40 years, this condition appears in exceptional circumstances. We present, in this study, two patients (of 55 and 64 years old) with very severe forms of ligneous conjunctivitis, cer...
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ژورنال
عنوان ژورنال: Blood
سال: 1997
ISSN: 1528-0020,0006-4971
DOI: 10.1182/blood.v90.3.958