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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 Martinez
Published 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.
Keyphrases
  • case report
  • chronic kidney disease
  • clinical practice
  • copy number
  • gene expression
  • dna methylation
  • physical activity
  • wound healing