Rothmund-Thomson Syndrome Type II: A Pediatric Case Presentation with Genetic and Dermoscopic Findings

Abstract

Background: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma, sparse hair, skeletal anomalies, and an increased risk of malignancies, particularly osteosarcoma and skin cancers. RTS is classified into two types: Type I with an unknown genetic cause and Type II associated with mutations in the RECQL4 gene. Case Report: We report the case of an 11-year-old male born to first-degree consanguineous parents, who presented with coarse, sparse hair and erythematous facial lesions since infancy, evolving into hypo- and hyperpigmented macules. Clinical examination revealed poikiloderma affecting the hands, Gluteal area, and feet, with skin atrophy, telangiectasias, eyebrow and eyelash alopecia, plantar hyperkeratosis, thumb hypoplasia, and psychomotor developmental delay. Dermoscopic evaluation demonstrated heterogeneous pigmentation with fine arborizing telangiectasias, without malignant features. Genetic analysis identified a pathogenic c.2335_2356del, p.(Asp779Cysfs*57) mutation in the RECQL4 gene, confirming the diagnosis of RTS Type II. Conclusion: This case highlights the importance of considering RTS in pediatric patients presenting with poikiloderma and developmental anomalies, particularly in consanguineous populations. Genetic confirmation is essential for accurate diagnosis, and long-term surveillance is crucial due to the increased risk of malignancies associated with RTS Type II.