Anais Brasileiros de Dermatologia
Print version ISSN 0365-0596
CARVALHO, Charles André et al. Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18. An. Bras. Dermatol. [online]. 2011, vol.86, n.4, suppl.1, pp. 42-45. ISSN 0365-0596. http://dx.doi.org/10.1590/S0365-05962011000700010.
Partial monosomy of the short arm of chromosome 18 (18p- syndrome) is characterized mainly by speech delay, mild to moderate mental retardation and short stature. We describe a patient with the 18psyndrome and widespread severe keratosis pilaris and ulerythema ophryogenes. This is the fourth case in which such an association has been reported. This association is of considerable interest because it may uncover a candidate genomic region and help to identify the gene responsible for follicular keratinization
Keywords : Chromosome deletion; Chromosomes, human, pair 18; Keratosis.