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Ulerythema ophryogenes and keratosis pilaris in a child with monosomy 18p.

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

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