The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review.
Christine ProdingerSubhanitthaya ChottianchaiwatJemima E MellerioJohn A McGrathLinda OzoemenaLu LiuWilliam MooreMartin LaimerGabriela PetrofAnna E MartinezPublished in: Pediatric dermatology (2021)
This study delineates the disease course of LOC and highlights the overlap with some forms of JEB. Classical signs/symptoms including anemia appear early in life. Genetic analysis revealed three new LOC-associated variants and underscores the finding that interpretation of skin immunolabeling and molecular diagnostics can be challenging. We provide recommendations on management of this complex syndrome.