N. Stosiek et al., CHROMOSOMAL MOSAICISM IN 2 PATIENTS WITH EPIDERMAL VERRUCOUS NEVUS - DEMONSTRATION OF CHROMOSOMAL BREAKPOINT, Journal of the American Academy of Dermatology, 30(4), 1994, pp. 622-625
Linear epidermal nevi are hamartomas that originate in embryonic ectod
erm. For epidermal nevi associated with involvement of other systems,
such as the skeleton or central nervous system, the term epidermal nev
us syndrome has been introduced. Chromosomal aberrations have been sug
gested but not proven as an underlying cause. We performed cytogenetic
studies of skin cells from two unrelated men who had a verruciform ep
idermal nevus. Variegated translocation mosaicism with an identical br
eakpoint localized at the long arm of chromosome 1 was present in both
patients. Normal skin and blood lymphocytes showed normal karyotypes.