Reticulated pigmentary changes and Terry's nails in a patient with a <scp><i>TERT</i></scp> variant‐associated telomere biology disorder
Telomere biology disorders (TBD) are a complex set of inherited illnesses characterized by short telomeres. Dyskeratosis congenita (DC), which is now considered a severe TBD phenotype, is characterized by reticulated pigmentary changes, nail dystrophy, premalignant oral leukoplakia, and systemic involvement. This case describes a 2-year-old female with reticulated pigmentary changes and Terry's nails who was found to have a TERT variant and short telomeres; she lacked other mucocutaneous and systemic features of TBD. This report describes a unique clinical presentation of TBD and highlights the importance of upholding suspicion for TBD in individuals with limited or subtle features of classic DC.
Authors
- Carol Erin Cheng (ORCID: https://orcid.org/0000-0003-0334-264X)
- Sasan D. Noveir (ORCID: https://orcid.org/0009-0005-2980-2140)
- Deeti J. Pithadia (ORCID: https://orcid.org/0000-0003-4294-044X)
- Marcia Hogeling (ORCID: https://orcid.org/0000-0002-1404-8860)
- Jayden Galamgam (ORCID: https://orcid.org/0000-0001-5582-7943)
- Amanda Truong (ORCID: https://orcid.org/0000-0001-9260-5418)
Institutions
- University of California, Los Angeles (US)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2024-09-03
- DOI
- https://doi.org/10.1111/pde.15735
- Primary Topic
- Telomeres, Telomerase, and Senescence
- Type
- article
- Field-Weighted Citation Impact
- 0.00