Dubin-Johnson syndrome with multiple liver cavernous hemangiomas: report of a familial case.

Dubin-Johnson syndrome (DJS) is a rare autosomal recessive inheritance disorder of bilirubin metabolism. Herein we reported a complicated but interesting case which is readily resulted in misdiagnosis or an indefinite diagnosis, and this is the first reported familial case of DJS with multiple liver cavernous hemangiomas. A 49-year-old man was referred to our hospital for jaundice and multiple low-density liver masses. Extensive laboratory investigations showed conjugated hyperbilirubinaemia and positive urine bilirubin. Microscopically, lesions were composed of blood-filled vascular channels of various sizes lined by a single layer of flat endothelial cells supported by fibrous tissue. Coarse brown granules presented in the hepatocytes of the liver lobules locating beside the tumor, particularly in the centrilobular hepatocytes, and the granules showed blue-green with Schmorl's reaction lipofuscin staining. Interestingly, one of the patient's six siblings (female) shared the same condition with him. The relationship between DJS and hemangiomas remains unclear, and it might be contributed to some hereditary factors, or probably occurred simultaneously by chance. It was certified that the true reason for the long-term unclear jaundice was DJS, which was presumed clinically to be caused by bile excretion obstacles associated with the hemangiomas. Liver biopsy and histochemical stain may be helpful to identify the reason of jaundice and avoid misdiagnosis or an indefinite diagnosis.

[1]  T. Uchiumi,et al.  Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin–Johnson syndrome , 2013, Hepatology research : the official journal of the Japan Society of Hepatology.

[2]  Chang’an Liu,et al.  Dubin-Johnson syndrome with cholecystolithiasis and choledocholithiasis. , 2013, International journal of surgery case reports.

[3]  V. Barbu,et al.  Novel mutations in the Dubin–Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes , 2012, Annals of clinical biochemistry.

[4]  S. Baik,et al.  [A case of sustained cholestasis caused by acute A viral hepatitis in Dubin-Johnson syndrome]. , 2012, The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi.

[5]  Z. Deng,et al.  [Pleomorphism of the myelin-like bodies in the hepatocytes of patients with Dubin-Johnson syndrome complicated with chronic hepatitis B]. , 2011, Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology.

[6]  S. Borzi,et al.  [The Dubin-Johnson syndrome: case report and review of literature]. , 2008, Acta gastroenterologica Latinoamericana.

[7]  M. Mahtab,et al.  Dubin-Johnson syndrome with systemic lupus erythematosus: a case report. , 2006, Hepatobiliary & pancreatic diseases international : HBPD INT.

[8]  A. Rastogi,et al.  Dubin-Johnson syndrome--a clinicopathologic study of twenty cases. , 2006, Indian journal of pathology & microbiology.

[9]  G. Asimuakopoulos Pregnancy and liver disease. , 2006, Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi.

[10]  A. Caro-Patón,et al.  [Familial hepatic hemangiomas]. , 2004, Gastroenterologia y hepatologia.

[11]  R. Spiegel,et al.  [Familial giant hemangiomas of the liver. Study of a family and review of the literature]. , 1998, Praxis.

[12]  P. Karhunen Benign hepatic tumours and tumour like conditions in men. , 1986, Journal of clinical pathology.

[13]  F. Johnson,et al.  Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases. , 1954, Medicine.