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Happle-Tinschert Syndrome: A Case Report of Unilateral Segmentally Arranged Basaloid Follicular Hamartoma with Scoliosis and Review of Literature

Authors
 Seong Hoon Seo  ;  Sang Eun Lee  ;  Soo-Chan Kim 
Citation
 ANNALS OF DERMATOLOGY, Vol.32(2) : 159-163, 2020-04 
Journal Title
 ANNALS OF DERMATOLOGY 
ISSN
 1013-9087 
Issue Date
2020-04
Keywords
Basaloid follicular hamartoma ; Happle-Tinschert syndrome
Abstract
Happle-Tinschert syndrome is a rare disease characterized by unilateral, segmentally arranged basaloid follicular hamartoma (BFH) with osseous, dental, and cerebral anomalies. Although BFH has been demonstrated to be associated with mutations in the patched gene, the genetic basis for Happle- Tinschert syndrome is still unknown. We describe a case of Happle-Tinschert syndrome in a 26-year-old female. The patient presented with unilateral skin color change to brownish papules and atrophoderma following the development of Blaschko’s lines, plantar pitting, and nail dystrophy on the right side of the body. She also had scoliosis, hemihypotrophy, and dental anomalies. The skin lesions were histologically confirmed as BFHs. Next-generation sequencing of the patient’s genomic DNA obtained from a peripheral blood sample identified no pathogenic mutation. This case illustrates the characteristic clinical features of Happle-Tinschert syndrome. Thus far, 14 cases of Happle-Tinschert syndrome have been reported, and we report another case of this syndrome.
Files in This Item:
T202004494.pdf Download
DOI
10.5021/ad.2020.32.2.159
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Soo Chan(김수찬) ORCID logo https://orcid.org/0000-0002-2327-4755
Lee, Sang Eun(이상은) ORCID logo https://orcid.org/0000-0003-4720-9955
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/180254
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