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Kearns Sayre syndrome initially presenting as hypomelanosis of Ito
  1. KAKOUROU TALIA,
  2. GAROUFI ANASTASIA,
  3. NIKOLAIDOU POLYXENI,
  4. DAFNI EVMORFIA,
  5. TSAMOURI MIGDALENI,
  6. A PAPADIMITRIOU,
  7. T KARPATHIOS
  1. 2nd Department of Pediatrics
  2. “A & P Kyriakou” Children’s Hospital
  3. Athens 11527, Greece

    https://doi.org/10.1136/adc.81.3.278g

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      Editor,—Hypomelanosis of Ito (HI) is a neurocutaneous syndrome characterised by hypopigmented skin lesions along Blaschko’s lines, frequently associated with neurological, musculoskeletal, ocular, and other extracutaneous manifestations. Chromosomal mosaicism in skin fibroblasts is responsible for approximately 30% of the cases.1 Kearns Sayre syndrome (KSS) is a mitochondrial multisystem disorder, usually associated with a single large scale muscle mtDNA deletion. Its main clinical characteristics are progressive external ophthalmoplegia and pigmentary retinopathy but virtually all organ systems can be involved.2

      We report a 13 year old boy who, at …

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