A Case of Variant Turner Syndrome with Multiple Café-au-lait Spots
- Author:
Gi-Wook LEE
1
;
Yeona KIM
;
Sang-Hyeon WON
;
Kyung-Nam BAE
;
Jungsoo LEE
;
Kihyuk SHIN
;
Hoon-Soo KIM
;
Byung-Soo KIM
;
Moon-Bum KIM
;
Hyun-Chang KO
Author Information
1. Department of Dermatology, Pusan National University School of Medicine, Busan, Korea
- Publication Type:Case Report
- From:Korean Journal of Dermatology
2023;61(4):244-247
- CountryRepublic of Korea
- Language:English
-
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.
