title: Ligneous conjunctivitis: a clinicopathological, immunohistochemical, and genetic study including the treatment of two sisters with multiorgan involvement.
abstract: Ligneous conjunctivitis (LC) is a rare disease characterized by wood-like pseudomembranes developing on the ocular and extraocular mucosae secondary to plasminogen (PLG) deficiency. In this paper, we report two cases of LC in two sisters of 57 and 62 years of age that presented with recurrent, bilateral pseudomembranes on conjunctiva and a history of consanguinity and deafness. Pseudomembranes showed superficial and/or subepithelial deposits of eosinophilic amorphous hyaline, amyloid-like material with a variable proportion of granulation tissue, and inflammatory cells. The eosinophilic deposits were negative for Congo red stain, immunoreactive for fibrinogen, and consistently negative for amyloid A component, transthyretin, beta(2)-microglobulin, albumin, fibronectin, collagen type IV, vimentin, and cytokeratins. Among inflammatory cells, a percentage of positivity of roughly 60% for lymphocytes T (CD3+) and 40% for lymphocytes B (CD8+), with a relation of cytotoxic/helper (CD8/4) T cells of 3:2, was found. In one case, nasal polyps and recurrent gastric peptic ulcer were also characterized by the same subepithelial hyaline deposits. A novel homozygous point mutation c.1856 C>T was found in exon 15 of the PLG gene in both patients. Amniotic membrane transplantation was done in one case with promising results.
authors: Anterior Segment Unit, Department of Ophthalmology, Hospital de Conxo-Complexo Hospitalario Universitario de Santiago, Galicia, Spain.
authors: M Teresa
authors: MT
authors: Rodríguez-Ares
authors: Ihab
authors: I
authors: Abdulkader
authors: Ana
authors: A
authors: Blanco
authors: Rosario
authors: R
authors: Touriño-Peralba
authors: Clara
authors: C
authors: Ruiz-Ponte
authors: Ana
authors: A
authors: Vega
authors: José
authors: J
authors: Cameselle-Teijeiro
mesh_terms: D000650:Amnion / Q000637:transplantation; D015496:CD4-Positive T-Lymphocytes / Q000473:pathology; D018414:CD8-Positive T-Lymphocytes / Q000473:pathology; D003231:Conjunctivitis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D005091:Exons / Q000235:genetics; D005123:Eye / Q000378:metabolism / Q000473:pathology; D005260:Female; D005753:Gastric Mucosa / Q000378:metabolism / Q000473:pathology; D006801:Humans; D006818:Hyalin / Q000378:metabolism; D008875:Middle Aged; D009092:Mucous Membrane / Q000378:metabolism / Q000473:pathology; D009298:Nasal Polyps / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D010958:Plasminogen / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D017354:Point Mutation / Q000235:genetics; D035781:Siblings; D013276:Stomach Ulcer / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*
chemical_list: D010958:Plasminogen
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