Rothmund-Thomson syndrome (RTS) or congenital poikiloderma is a rare autosomal recessive genodermatosis with involvement of many systems. The risk of mesenchymal malignancy is high in this disease which is accompanied by skin findings such as skin atrophy, hypo-hyperpigmentation, short stature, growth retardation, hypogonadism, nail and tooth dysplasia, limb abnormalities, and gastrointestinal system symptoms such as chronic diarrhoea and vomiting. A syndromic patient with thumb aplasia in bilateral fingers, hypopigmented and hyperpigmented macular lesions on the skin, and hypogonadism was referred to the Pediatric Genetics Department and diagnosed with RTS. In this rare disease, early diagnosis, awareness of possible malignancies, and a multidisciplinary treatment approach plan are required.
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Marcella Anggatama, Hanggoro Tri Rinonce, Dwinanda Almira Rizkiani, Eddy Supriyadi, Raden Roro Rini Andayani, Yohanes Widodo Wirohadidjojo, Retno Danarti
(2025)
Diagnostic Challenges of Rothmund-Thomson Syndrome in Infancy: A Case Report from a Resource-Limited Setting
OBM Genetics, 09(04)
10.21926/obm.genet.2504320The statements, opinions and data contained in the journal are solely those of the individual authors and contributors and not of the publisher and the editor(s). We stay neutral with regard to jurisdictional claims in published maps and institutional affiliations.