A further case of basal cell nevus syndrome and structural chromosome abnormalities

Summary and Conclusions

In a 30-year-old man with typical signs of basal cell nevus syndrome (multiple nevoid basal cell carcinoma, jaw cysts, vertebral malformations, palmar and plantar pits), an increased incidence of chromosomal breakage in cultivated peripheral blood lymphocytes was observed. To interpret this finding, the following possibilities might be discussed:

• 1. Are the aberrations artefacts due to culture conditions? This can be excluded, as the findings were reproducible, and as cultures simultaneously established from other individuals yielded normal chromosomal patterns.

• 2. Is the high incidence of chromosomal breakage due to the X-ray therapy carried out in 1962? This possibility also seems rather improbable, if the technical data of the irradiation are considered (dose and quality of rays, field size, localisation on the chin).

• 3. The chromosomal aberrations foundin vitro might be correlated with the basal cell nevus syndrome. An exact explanation of this interrelationship is not possible at the present time. Similar chromosomal aberrations have previously been observed in two other patients with nevoid basal cell carcinoma (Happleet al., Arch. derm. Forsch.241, 96 (1971), Happle and Hoehn (in preparation)).

Thus the present case represents the third patient with nevoid basal cell carcinoma and increased incidence of chromosomal breakagein vitro.