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Unilateral linear hyperpigmentation of the skin with ipsilateral sectorial hyperpigmentation of the retina

✍ Scribed by Meyer, Carsten H. ;Freyschmidt-Paul, Pia ;Happle, Rudolf ;Kroll, Peter

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 108 KB
Volume: 126A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20483

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✦ Synopsis

Abstract

A 32‐year‐old Caucasian man had a mosaic hyperpigmentation on his left arm, arranged in a pattern following the lines of Blaschko. In addition, a mosaic hyperpigmentation was noted in his left eye, in the form of grouped congenital hypertrophy of the retinal pigment epithelium (CHRPE). Such “bear tracks” are segmentally oriented, well‐demarcated, flat, hyperpigmented lesions originating with small dots at the optic disk and expanding towards the periphery. We hypothesize that these mosaic pigmentary lesions involving the skin and the eye on the same side of the body may have originated from an early postzygotic mutation and thus may be etiologically related. © 2003 Wiley‐Liss, Inc.

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