title: Waxy keratoses of childhood in a segmental distribution.
abstract: Waxy keratoses of childhood is a rare genodermatosis previously noted in both familial and isolated presentations. Three previous cases have been described in which the lesions appeared over the trunk and extremities. We report a case in which the waxy keratoses of childhood lesions appeared in a segmental distribution along a single lower extremity, differing from the more extensive patterns reported previously. We suggest a possible postzygotic mutation hypothesis for this unique segmental distribution, addressing both the possibility of a genomic mosaicism and loss of heterozygosity.
authors.affiliation: Northeastern Ohio Universities College of Medicine, Rootstown, Ohio, USA.
authors.forename: D
authors.initials: D
authors.lastname: Mehrabi
authors.forename: J E
authors.initials: JE
authors.lastname: Thomas
authors.forename: M A
authors.initials: MA
authors.lastname: Selim
authors.forename: N S
authors.initials: NS
authors.lastname: Prose
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007642:Keratosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology