Introduction. 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. Case report. 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. Conclusion. In this rare disease, early diagnosis, awareness of possible malignancies, and a multidisciplinary treatment approach plan are required.
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