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Oesophageal and scaly skin lesions associated with chronic cholestatic liver disease
  1. Philipp Kasper,
  2. Tobias Goeser,
  3. Dirk Nierhoff
  1. Department of Gastroenterology and Hepatology, Faculty of Medicine and University Hospital of Cologne, Cologne, Germany
  1. Correspondence to Dr Dirk Nierhoff, Department of Gastroenterology and Hepatology, Faculty of Medicine and University Hospital of Cologne, Cologne 50937, Germany; dirk.nierhoff{at}uk-koeln.de

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Clinical presentation

A 29-year-old man presented to the hospital with progressive dysphagia and nausea. He also claimed recurrent episodes of nyctalopia (night blindness) in the past. His medical history includes a hepatocyte nuclear factor-1β gene mutation causing a chronic cholestatic liver disease.

On physical examination, epigastric tenderness was detected and there were multiple scaly plaques at the extensor sides of the upper and lower extremities (figure 1A).

Figure 1

(A) Skin lesions on the left lower leg. (B) Endoscopic view of the distal oesophagus. (C) Endoscopic view of the distal oesophagus. (D) Histology findings of distal oesophagus biopsies. (E) Endoscopic view of the distal oesophagus 2 weeks after vitamin A substitution.

Laboratory tests revealed increased parameters of cholestasis including an elevated bilirubin level of 2.7 mg/dL (normal range: <1.2 mg/dL), a markedly increased alkaline phosphatase level of 1113 U/L (normal range: 40–130 U/L) and a raised gamma-glutamyl-transferase level of 370 U/L (normal range: <60 U/L). Increased parameters of cholestasis were accompanied by low serum levels of all fat-soluble vitamins (vitamin A level: 68 ng/mL [normal range: 300–800 ng/mL]; 25-hydroxyvitamin D level: 3.5 µg/L [normal range: 30–70 µL/L]; vitamin E level: 1.7 µg/mL [normal range: 5–18 µg/mL] and vitamin K1 level: 0.6 ng/mL [normal range: 0.1–2.2 ng/mL]).

Oesophagogastroduodenoscopy (OGD) was performed and showed multiple shallow, plaque-like, white lesions that were arranged in long strips in the distal oesophagus without luminal narrowing (figures 1B,C).

Question

What is the aetiology of the oesophageal lesions?

Answer

Histopathological examination revealed an oesophageal hyperkeratosis with a prominent keratin layer covering the squamous epithelium of the lower oesophagus (figure 1D). There was no histological evidence of squamous dysplasia or Barrett’s metaplasia. Staining for fungal organism was negative.

Concomitant histological analysis of the skin lesion showed a follicular hyperkeratosis.

Based on the clinical, laboratory and histopathological findings an oesophageal hyperkeratosis secondary to vitamin A deficiency was diagnosed.

After parenteral substitution of vitamin A, all patient’s symptoms improved. A follow-up OGD 14 days later revealed an almost complete remission of the oesophageal lesions (figure 1E).

Deficiency of fat-soluble vitamins—and in particular vitamin A deficiency—is mostly observed in diseases characterised by malabsorption, such as cystic fibrosis, inflammatory bowel disease or cholestatic liver disease.1 In our patient, the deficiency of fat-soluble vitamins was probably caused by the chronic cholestasis, which is associated with malabsorption of dietary lipids and fat-soluble vitamins due to insufficient intraluminal bile acid concentrations.

Oesophageal hyperkeratosis involves ~2% of oesophageal biopsies and is associated with gastro-oesophageal reflux disease, Barett’s oesophagus, oesophageal squamous neoplasia and has also been reported in patients with excessive alcohol consumption or—very rarely—vitamin A deficiency.2–4

References

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Footnotes

  • Contributors PK and DN wrote the manuscript and reviewed the literature, PK drafted the manuscript, TG critically revised the manuscript.

  • 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.

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

  • Patient consent for publication Obtained.

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