Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome.
Birt-Hogg-Dubé syndrome is a hereditary syndrome characterized by benign disease of skin and lungs and a risk of malignant renal tumors. We describe a clinical and genetic study of a large Dutch family with a novel mutation in the FLCN gene. Renal cancer at very young age occurred in one branch of this family, while in other branches, cutaneous and pulmonary symptoms predominated. A variety of congenital anomalies and connective tissue abnormalities were observed, possibly associated with the gene mutation.
Kluijt
I
I
Family Cancer Clinic, The Netherlands Cancer Institute/Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands. i.kluijt@nki.nl
de Jong
D
D
Teertstra
H J
HJ
Axwijk
P H
PH
Gille
J J P
JJ
Bell
K
K
van Rens
A
A
van der Velden
A W G
AW
Middelton
L
L
Horenblas
S
S