Adult-onset laryngo-onycho-cutaneous syndrome with bilateral ocular pyogenic granulomas and a novel LAMA3 variant

We describe a rare adult presentation of laryngo-onycho-cutaneous (LOC) syndrome with bilateral ocular pyogenic granulomas, systemic manifestations, and a novel LAMA3 mutation. A 48-year-old woman with lifelong hoarseness presented with bilateral conjunctival masses causing vision loss in the left eye. The visual acuity was 6/6 right eye and counting fingers in the left eye. The left eye exhibited a large lobulated granuloma extending onto the cornea with pannus, symblepharon, and vascularization. Systemic examination revealed the presence of vocal cord granuloma, dental enamel hypoplasia, nail dystrophy, and cutaneous scarring. The left eye lesion was excised and reconstructed with cryopreserved amniotic membrane transplantation (AMT). Postoperatively, vision improved to 6/6 with a stable ocular surface at 3 months. Histopathology confirmed the diagnosis of pyogenic granuloma. Whole exome sequencing identified a novel early nonsense LAMA3 mutation (c.133C>T; p.Gln45*). This rare adult-onset LOC syndrome case with bilateral ocular pyogenic granulomas and a novel early LAMA3 truncation expands our clinical and genetic understanding for rare inherited ocular surface disorders and AMT offers effective ocular surface reconstruction restoring vision.