A 27-year-old man with multiple pigmented freckles on his lips and face is investigated for iron deficiency anaemia. A diagnosis of Peutz-Jeghers syndrome is suspected.
What is the mode of inheritance?
Correct Answer D: Peutz-Jeghers syndrome - autosomal dominant.
Peutz-Jeghers syndrome: Peutz-Jeghers syndrome is an autosomal dominant condition characterized by numerous hamartomatous polyps in the gastrointestinal tract. It is also associated with pigmented freckles on the lips, face, palms and soles.
Around 50% of patients will have died from a gastrointestinal tract cancer by the age of 60 years.
Genetics:
Features:
Management:
The increased risk of oesophageal malignancy in patients with Barrett's oesophagus is approximately:
Correct Answer D:
Barrett's oesophagus: Barrett's refers to the metaplasia of the lower oesophageal mucosa, with the usual squamous epithelium being replaced by columnar epithelium. There is an increased risk of oesophageal adenocarcinoma, estimated at 50- 100 fold.
Histological features:
Where do the majority of VIPomas arise from?
Correct Answer C:
VIPoma: VIP (vasoactive intestinal peptide):
VIPoma:
Which one of the following is not associated with oesophageal cancer?
Correct Answer D: Helicobacter pylori may actually be protective against oesophageal cancer.
Oesophageal cancer: Until recent times oesophageal cancer was most commonly due to a squamous cell carcinoma but the incidence of adenocarcinoma is rising rapidly. Adenocarcinoma is now the most common type of oesophageal cancer and is more likely to develop in patients with a history of gastro-oesophageal reflux disease (GORD) or Barrett's.
The majority of tumours are in the middle third of the oesophagus.
Risk factors:
A 45-year-old man is noted to have non-tender, smooth hepatomegaly associated Dupuytren's contracture and parotid enlargement. He recently returned from a holiday in Thailand.
What is the likely diagnosis?
Correct Answer C: Both Dupuytren's contracture and parotitis are associated with alcoholic liver disease. Whilst a history of alcohol excess would normally be volunteered it should be remembered many patients will lie about their alcohol intake.
The recent holiday in Thailand is a distractor.
Hepatomegaly: Common causes of hepatomegaly:
Other causes:
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