Linear hypermelanosis in narrow bands: a mosaic pattern manifestation of dyskeratosis congenita?
We report on two patients with a c.844C>T variant in TINF2 demonstrating distinct phenotypes of classic dyskeratosis congenita (DC) and a novel linear hypermelanosis in narrow bands similar to mosaic DC. The first patient presented with classic features of DC linked to a germline mutation, while the second exhibited extensive linear hypermelanosis in narrow bands similar to the pigmentary lesions attributed to somatic mosaicism. These findings underscore the critical role of genetic analysis, particularly in affected tissues, for understanding mosaic dermatoses. Our report expands the phenotypic spectrum of DC and sheds light on the molecular mechanisms underlying mosaic congenital dyschromatosis.
Authors
- Zhiming Chen (ORCID: https://orcid.org/0000-0002-3097-0126)
- Guoyi Zhang (ORCID: https://orcid.org/0000-0002-1757-6378)
- Ran Mo (ORCID: https://orcid.org/0000-0002-2394-1896)
- Ruiyu Xiang (ORCID: https://orcid.org/0000-0002-3211-8922)
- Wei Zhang (ORCID: https://orcid.org/0000-0001-9968-0023)
- Hongyang Li (ORCID: https://orcid.org/0000-0002-9014-7502)
- Jianfang Sun (ORCID: https://orcid.org/0000-0001-9229-4904)
- Yong Yang (ORCID: https://orcid.org/0000-0002-7668-3309)
- Mingming Xu
- Xiaofang Li (ORCID: https://orcid.org/0000-0002-5148-2922)
Institutions
- Peking Union Medical College Hospital (CN)
- Chinese Academy of Medical Sciences Dermatology Hospital (CN)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-03-11
- DOI
- https://doi.org/10.1093/bjd/ljaf091
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00