FaCD Online Syndrome Fact Sheet

Last updated: 21 Feb 2008

Name: Diffuse Tubulocystic Renal Hyperplasia with Renal Cell Cancer

Mode of Inheritance: de novo?

Tumor features

renal cell cancer, papillary

Non-tumor features

craniofacial dysmorphisms
developmental delay/mental deficiency/mental retardation
microcephaly
renal cysts

Comment

Henske et al.[1] reported on a 11-year-old girl and a 10-year-old boy, both with bilateral tubulocystic renal hyperplasia and tubulopapillary renal carcinoma (bilateral in the boy). The girl had a developmental delay, microcephaly and facial dysmorphisms (not further specified), whereas the boy did not. Therefore, their renal disease might have a different etiology. The authors considered von Hippel-Lindau disease, tuberous sclerosis (including the TSC2/PKD1 contiguous gene syndrome) and oro-facial-digital syndrome type 1 in the differential diagnosis, but in their opinion their patients did not meet the criteria for any of these disorders.

References

[1] Henske EP, Thorner P, Patterson K, Zhuang Z, Bernstein J. Renal cell carcinoma in children with diffuse cystic hyperplasia of the kidneys. Pediatr Dev Pathol 1999; 2(3):270-274.