A rare case of limb anomalies: Rothmund-Thomson syndrome

Memiş, Sebahattin; Demirtaş, Mehmet Semih

A rare case of limb anomalies: Rothmund-Thomson syndrome

dc.contributor.author	Memiş, Sebahattin
dc.contributor.author	Demirtaş, Mehmet Semih
dc.date.accessioned	2025-02-27T11:22:39Z
dc.date.available	2025-02-27T11:22:39Z
dc.date.issued	2024
dc.department	Tıp Fakültesi
dc.description.abstract	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, hypohyperpigmentation, 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.
dc.identifier.doi	10.5937/afmnai41-49782
dc.identifier.endpage	574	en_US
dc.identifier.issn	0351-6083
dc.identifier.issue	4	en_US
dc.identifier.startpage	569	en_US
dc.identifier.uri	https://dx.doi.org/10.5937/afmnai41-49782
dc.identifier.uri	https://hdl.handle.net/20.500.12451/12973
dc.identifier.volume	41	en_US
dc.language.iso	en
dc.publisher	University of Nis, Faculty of Medicine
dc.relation.ispartof	Acta Facultatis Medicae Naissensis
dc.relation.publicationcategory	Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	Limb Abnormalities
dc.subject	Poikiloderma
dc.subject	Rothmund-Thomson Syndrome
dc.title	A rare case of limb anomalies: Rothmund-Thomson syndrome
dc.type	Article