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Waxy Keratoses of Childhood in a Segmental Distribution

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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.
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Document Type: Research Article

Affiliations: 1: Northeastern Ohio Universities College of Medicine, Rootstown, Ohio 2: Department of Pathology, Duke University Medical Center, Durham, North Carolina 3: Department of Medicine, Duke University Medical Center, Durham, North Carolina

Publication date: October 1, 2001

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