Clinical, histopathological, and genetic aspects in one case of ligneous conjunctivitis

• Published in: Ophthalmic genetics Vol. 39; no. 5; pp. 642 - 644
• Main Authors: Raimann, Rolf, Moya, Rene, Anguita, Rodrigo, Kobus, Rudolf, Pérez, Marcela, Gonzalez, Patricio
• Format: Journal Article
• Language: English
• Published: England 01.10.2018
• Subjects: Ligneous conjunctivitis; plasminogen deficiency; plasminogen gene; surgical excision; topical treatment
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2018.1502791

Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes. Only few hundred cases have been reported in the literature. Here we report a case of a 9-year-old boy with diagnosis of ligneous conjunctivitis. Histopathological examination in hematoxylin-eosin (HE) staining and sequencing of PLG gene were performed to confirm diagnosis. Histopathological findings confirmed the diagnosis of ligneous conjunctivitis. The patient is compound heterozygous for c.1026T>G (p.Val342Gly) and c.2384G>C (p.Arg795Pro) mutations in PLG gene. Both mutations have not been described previously, and the bioinformatic analysis strongly suggests that are causative of the disease. To the best of our knowledge, this is the first case report of a Chilean patient with ligneous conjunctivitis.