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Non-alcoholic steatohepatitis associated with Netherton syndrome
  1. Stephanie Tanner1,
  2. Atharina Julai2 and
  3. David Angelo Gorard1
  1. 1 Gastroenterology, Stoke Mandeville Hospital, Aylesbury, UK
  2. 2 Histopathology, Stoke Mandeville Hospital, Aylesbury, UK
  1. Correspondence to Dr Stephanie Tanner, s.l.tanner1{at}


A 21-year-old man with Netherton syndrome underwent investigation of a persistently elevated serum alanine transaminase, detected on routine monitoring. He drank no alcohol, was not diabetic or overweight (body mass index 23 kg/m2) and had no clinical features of liver dysfunction. A FibroScan yielded an elevated result of 9.3 kPa. An ultrasound guided liver biopsy showed histological features consistent with non-alcoholic steatohepatitis, with activity score of 4 and fibrosis stage of 3. The patient was started on vitamin E supplementation and remains under surveillance.

  • dermatology
  • non-alcoholic steatosis
  • genetics

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  • Contributors The patient was identified and treated by DAG; who also sought the patient’s consent for publication and approved the final submission. The case report was written, finalised and submitted by ST. AJ provided histopathological images and interpretation for submission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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