Korean J Dermatol.
2022 Aug;60(7):436-439.
The Focal Facial Dermal Dysplasia Type 3: Setleis Syndrome
- Affiliations
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- 1Department of Dermatology, Pusan National University School of Medicine, Yangsan, Korea
- 2Department of Dermatology, Pusan National University Yangsan Hospital, Yangsan, Korea
- 3, Biomedical Research Institute, Pusan National University Yangsan Hospital, Yangsan, Korea
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.
