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Unilateral linear hyperpigmentation of the skin with ipsilateral sectorial hyperpigmentation of the retina
Author(s) -
Meyer Carsten H.,
FreyschmidtPaul Pia,
Happle Rudolf,
Kroll Peter
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20483
Subject(s) - hyperpigmentation , anatomy , retina , pigmentation disorder , retinal pigment epithelium , skin hyperpigmentation , retinal , medicine , dermatology , biology , ophthalmology , neuroscience
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.