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Published on: April 13, 2015
Reticulated pigmentary changes and Terry's nails in a patient with a TERT variant-associated telomere biology
Sasan D Noveir1,2, Jayden Galamgam2, Deeti Pithadia2
1David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California, USA.
Abstract:
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.
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