Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation.
We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema ophryogenes). Two-color FISH with centromere-specific Y and 18 DNA probes identified the derivative chromosome 18 as a dicentric with breakpoints in p11.2 on both involved chromosomes. The patient had another normal Y chromosome. This is a third report the presence of a chromosome 18p deletion (and first case of a translocation involving 18p and a sex chromosome) with this genodermatosis. Our data suggest that the short arm of chromosome 18 is a candidate region for a gene causing keratosis pilaris. Unmasking of a recessive mutation at the disease locus by deletion of the wild type allele could be the cause of the recessive genodermatosis.
Institute of Medical Genetics, Tomsk, Russia. snaz@img.tsu.ru
S A
SA
Nazarenko
N V
NV
Ostroverkhova
E O
EO
Vasiljeva
L P
LP
Nazarenko
V P
VP
Puzyrev
P
P
Malet
T A
TA
Nemtseva
D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005138:Eyebrows / Q000002:abnormalities*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007642:Keratosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D012871:Skin Diseases / Q000175:diagnosis; D014178:Translocation, Genetic