The Focal Facial Dermal Dysplasia Type 3: Setleis Syndrome
- Author:
Jun-Oh SHIN
1
;
Kyung-Nam BAE
;
Hoon-Soo KIM
;
Hyun-Chang KO
;
Byungsoo KIM
;
Moon-Bum KIM
;
Kihyuk SHIN
Author Information
1. Department of Dermatology, Pusan National University School of Medicine, Yangsan, Korea
- Publication Type:Case Report
- From:Korean Journal of Dermatology
2022;60(7):436-439
- CountryRepublic of Korea
- Language:English
-
Abstract:
Setleis syndrome, also known as the focal facial dermal dysplasia type 3, is characterized by atrophic scar-like lesions in both the temporal regions and other facial abnormalities. The syndrome is associated with a mutation in the TWIST2 gene and is inherited as an autosomal recessive pattern. Here, we describe a case of an 18-year-old woman and her 10-year-old brother with bitemporal depressed patches. The lesions were observed at birth, but they were replaced by atrophic patches after several months. No abnormalities in growth or development were observed. Histopathologic findings showed atrophy of the epidermis and loss of appendages, such as hair follicles and adnexal glands, in the atrophic patches compared to that of the adjacent normal skin.
