A  rare case of with limb anomalies: Rothmund-Thomson syndrome :

Sebahattin Memiş; Mehmet Semih Demirtas

doi:10.5937/afmnai41-49782

Sebahattin Memiş Aksaray Eğitim ve Araştırma Hastanesi
Mehmet Semih Demirtas Aksaray University, medicine Faculty, Department of Pediatrics https://orcid.org/0000-0003-2965-1811

DOI: https://doi.org/10.5937/afmnai41-49782

Keywords: Rothmund-Thomson Syndrome, limb abnormalities, poikiloderma

Abstract

Introduction: Rothmund-Thomson Syndrome (RTS) or Poikiloderma Congenitale 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, hypogonadism was consulted to the Pediatric Genetics Department and diagnosed as RTS.

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

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