Jf. Korczak et al., NEVOID BASAL-CELL CARCINOMA SYNDROME WITH MEDULLOBLASTOMA IN AN AFRICAN-AMERICAN BOY - A RARE CASE ILLUSTRATING GENE-ENVIRONMENT INTERACTION, American journal of medical genetics, 69(3), 1997, pp. 309-314
We present an 8-year-old African-American boy with medulloblastoma and
nevoid basal cell carcinoma syndrome (NBCCS) who exhibited the radios
ensitive response of basal cell carcinoma (BCC) formation in the area
irradiated for medulloblastoma, Such a response is well-documented in
Caucasian NBCCS patients with medulloblastoma, The propositus was diag
nosed with medulloblastoma at the age of 2 years and underwent surgery
, chemotherapy, and craniospinal irradiation, At the age of 6 years, h
e was diagnosed with NBCCS following his presentation with a large odo
ntogenic keratocyst of the mandible, pits of the palms and soles and n
umerous BCCs in the area of the back and neck that had been irradiated
previously for medulloblastoma, Examination of other relatives showed
that the propositus' mother also had NBCCS but was more mildly affect
ed; in particular, she had no BCCs, This case illustrates complex gene
-environment interaction, in that increased skin pigmentation in Afric
an-Americans is presumably protective against ultraviolet, but not ion
izing, radiation, This case and other similar cases in the literature
show the importance of considering NBCCS in the differential diagnosis
of any patient who presents with a medulloblastoma, especially before
the age of 5 years, and of examining other close relatives for signs
of NBCCS to determine the patient's at-risk status. Finally, for indiv
iduals who are radiosensitive, protocols that utilize chemotherapy in
lieu of radiotherapy should be considered. (C) 1997 Wiley-Liss, Inc.