Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation

• Published in: American journal of medical genetics 1999-07, Vol.85 (2), p.179-182
• Main Authors: Nazarenko, Sergey A., Ostroverkhova, Nadezhda V., Vasiljeva, Elena O., Nazarenko, Ludmila P., Puzyrev, Valery P., Malet, Paul, Nemtseva, Tanja A.
• Format: Article
• Language: English
• Subjects: Adolescent; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 18; Eyebrows - abnormalities; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Keratosis - diagnosis; Keratosis - genetics; keratosis pilaris; Male; monosomy 18p; Skin Diseases - diagnosis; translocation Y/18; Translocation, Genetic; ulerythema ophryogenes
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19990716)85:2<179::AID-AJMG14>3.0.CO;2-R

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. Am. J. Med. Genet. 85:179–182, 1999. © 1999 Wiley‐Liss, Inc.