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Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome
  1. A K Lampe1,
  2. P J Hampton2,
  3. K Woodford-Richens3,
  4. I Tomlinson3,
  5. C M Lawrence2,
  6. F S Douglas1
  1. 1Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
  2. 2Department of Dermatology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK
  3. 3MPGL, Cancer Research UK, 44 Lincoln’s Inn Fields, London WC2A 3PX, UK
  1. Correspondence to:
 Dr A K Lampe, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK;
 anne.lampe{at}ncl.ac.uk

https://doi.org/10.1136/jmg.40.6.e77

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    Laugier-Hunziker syndrome (LHS) is a rare sporadic disorder, which shares some dermatological features with Peutz-Jeghers syndrome (PJS). However, whereas PJS is associated with hamartomatous gastrointestinal polyposis and carries a high risk of malignancy justifying intensive screening protocols,1 LHS is known to be an entirely benign disease with no systemic manifestations, which requires patient reassurance as the only intervention.2

    CASE REPORT

    To highlight the importance of this differential diagnosis, we present the case of a 52 year old white man who was referred to our genetics department for advice in view of his diagnosis of PJS. His dentist had first noted the appearance of perioral and intraoral pigmentation in him at the age of 45 and he was normotensive and systemically well with no history of intermittent vomiting, abdominal pain, anaemia, or rectal bleeding. On the basis of the clinical features supported by a biopsy of one of the lesions seven years earlier a dermatological diagnosis of PJS had been made and he had been referred for gastrointestinal screening and surveillance. Over the past six years he had undergone regular oesophagogastroduodenoscopies and two yearly colonoscopies which had disclosed a hiatus hernia and mild diverticulosis but no polyps. Unfortunately, one of his colonoscopies had resulted in a colonic perforation. Nothing abnormal was detected on a barium follow through and blood tests including kidney, liver, and thyroid function tests, full blood count, and measurement of α-fetoprotein and carcinoembryonic antigen were also normal.

    The patient was referred to the genetics department with the aim of molecular confirmation of diagnosis. When his family history was ascertained the patient reported that his 79 year old mother had an isolated freckle on her lower lip which had remained unchanged since birth. She was otherwise well with no history of gastrointestinal problems. His father had died from bronchial …

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