Sporadic Kindler Syndrome with a novel mutation
A 28-year-old woman from Porto Alegre reported that since childhood she had widespread\nskin pigmentary changes and photosensitivity, as well as fragility of the skin and\nmucous membranes. No other cases were reported in her family. Skin examination revealed\nmarked atrophy of the skin on the back of the hands and feet, as well as a few scattered\nerosions/resolving blisters (). There was\nextensive dyschromia on the limbs and trunk (). We also noted a loss of dermatoglyphics on her fingers. Examination of her\nmouth showed erosive stomatitis. She also reported esophageal, vaginal and anal\ninflammation, leading to stricture formation, requiring surgical correction. A skin\nbiopsy showed disruption of dermal collagen bundles and a focal reduction in elastic\nfibers (). DNA was extracted from\nperipheral leucocytes and used to sequence the FERMT1 gene. Two\nheterozygous mutations were identified: the change c.328C>T results in the creation\nof a nonsense mutation, p.Arg110X and the insertion c.866insGG leads to a frameshift and\na premature termination codon 7 amino acids downstream, p.Ala289GlufsX7 ().