Reticulated pigmentary changes and Terry's nails in a patient with a TERT variant-associated telomere biology disorder

Sasan D Noveir; Jayden Galamgam; Deeti Pithadia; Amanda Truong; Marcia Hogeling; Carol E Cheng

doi:10.1111/pde.15735

Reticulated pigmentary changes and Terry's nails in a patient with a TERT variant-associated telomere biology disorder

Pediatr Dermatol. 2025 Jan-Feb;42(1):139-144. doi: 10.1111/pde.15735. Epub 2024 Sep 3.

Authors

Sasan D Noveir^{1

2}, Jayden Galamgam², Deeti Pithadia², Amanda Truong², Marcia Hogeling², Carol E Cheng²

Affiliations

¹ David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California, USA.
² Division of Dermatology, Department of Medicine, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California, USA.

PMID: 39225247
DOI: 10.1111/pde.15735

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.

Keywords: Terry's nails; dyskeratosis congenita; leukonychia; reticulate pigmentary disorders; telomere biology disorders.

Publication types

Case Reports

MeSH terms

Child, Preschool
Dyskeratosis Congenita* / diagnosis
Dyskeratosis Congenita* / genetics
Female
Humans
Nail Diseases* / genetics
Nails, Malformed* / genetics
Pigmentation Disorders* / genetics
Telomerase* / genetics
Telomere / genetics

Substances

Telomerase
TERT protein, human