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Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome?

Matthias Dettmer12*, Peter Itin3, Peter Miny4, Manoj Gandhi2, Gieri Cathomas1 and Niels Willi1

Author Affiliations

1 Cantonal Institute of Pathology, Liestal, Switzerland

2 Department of Pathology and Laboratory Medicine, University of Pittsburgh, Pittsburgh, USA

3 Department of Dermatology, University of Basel, Switzerland

4 Division of Medical Genetics, University Children's Hospital, Basel, Switzerland

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Diagnostic Pathology 2011, 6:75  doi:10.1186/1746-1596-6-75

Published: 10 August 2011


Ectopic liver is a very uncommon developmental anomaly that predisposes to the development of hepatocellular carcinoma. We describe the second documented case of a hepatocellular carcinoma developing in the primary liver of a patient with a rare and uncharacterized genetic symptom complex. Also present was the largest ectopic liver ever reported, measuring 12 cm in diameter which contained a solitary focus of metastatic hepatocellular carcinoma. The primary hepatocellular carcinoma is believed to have arisen in the native liver from a hepatic adenoma that was diagnosed 15 years earlier. The patient's uncharacterised condition featured prominent thick, yellow skin over the dorsum of the fingers, and was associated with follicular hyperkeratosis, abnormal plantar creases, digital clubbing, misshaped ears, a lingua plicata and an angioleiomyolipoma of the right kidney.

This unique case of hepatocellular carcinoma arising from liver cell adenoma in a patient with an uncharacterised condition featuring a large ectopic liver invites discussion of the role of local factors in carcinogenesis in the parent liver but not the ectopic liver. It also underlines the imperative ongoing need for clinical autopsies.

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ectopic liver; hepatocellular carcinoma; metastasis; autopsy; genetic syndrome, pachydermoperiostosis