ULERYTHEMA-OPHRYOGENES AND KERATOSIS PILARIS IN A CHILD WITH MONOSOMY18P

We report a 13-year-old boy with deletion of the short arm of chromoso me 18 and follicular, partially inflammatory, keratotic papules of the eyebrows, foreskin, and cheeks (ulerythema ophryogenes) as well as th e shoulders, upper back, upper arms, and thighs (keratosis pilaris), i nitially diagnosed as atopic dermatitis. Over 100 patients with this g enetic defect have been reported, and the 18p- syndrome is considered one of the most frequently occurring deletion syndromes. However, uler ythema ophryogenes and keratosis pilaris have not been described in an y of these patients, although the association of the latter with other genetic abnormalities is well known. Keratosis pilaris is a relativel y common genodermatosis of ectodermal origin, frequently occurring wit h ichthyosis or atopy; concomitance with ulerythema ophryogenes has al so been reported. The association of chromosome 18p deletion defect an d ulerythema ophryogenes may be helpful in future attempts to localize the gene defect responsible for follicular genokeratoses.