Korean J Dermatol.
2023 May;61(4):244-247.
A Case of Variant Turner Syndrome with Multiple Café-au-lait Spots
- Affiliations
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- 1Department of Dermatology, Pusan National University School of Medicine, Busan, Korea
- 2Department of Dermatology, Pusan National Yangsan University Hospital, Yangsan, Korea
Abstract
- The phenotypic variability of variant Turner syndrome is wide, ranging from characteristic clinical features to those that are hardly distinguishable from the general population. A 4-year-old girl presented with multiple brownish macules and patches on the trunk and upper extremities as well as axillary freckles. Exome sequencing and chromosomal microarray testing revealed a microdeletion at Xp22.33p22.11 leading to a diagnosis of Turner syndrome. Here we describe an unusual case of variant Turner syndrome with multiple café-au-lait spots.
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