Noveir Sasan D, Galamgam Jayden, Pithadia Deeti, Truong Amanda, Hogeling Marcia, Cheng Carol E
David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California, USA.
Division of Dermatology, Department of Medicine, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California, USA.
Pediatr Dermatol. 2025 Jan-Feb;42(1):139-144. doi: 10.1111/pde.15735. Epub 2024 Sep 3.
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.
端粒生物学障碍（TBD）是一组以端粒缩短为特征的复杂遗传性疾病。先天性角化不良（DC）现被认为是一种严重的TBD表型，其特征为网状色素沉着改变、指甲营养不良、癌前口腔白斑及全身受累。本病例描述了一名2岁女性，有网状色素沉着改变和泰瑞氏甲，发现存在TERT变异及端粒缩短；她缺乏TBD的其他黏膜皮肤和全身特征。本报告描述了TBD一种独特的临床表现，并强调了对于具有经典DC有限或细微特征的个体保持TBD怀疑的重要性。
