A rare case of limb anomalies: Rothmund-Thomson syndrome

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Tarih

2024

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

University of Nis, Faculty of Medicine

Erişim Hakkı

info:eu-repo/semantics/openAccess

Özet

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.

Açıklama

Anahtar Kelimeler

Limb Abnormalities, Poikiloderma, Rothmund-Thomson Syndrome

Kaynak

Acta Facultatis Medicae Naissensis

WoS Q Değeri

Scopus Q Değeri

Cilt

41

Sayı

4

Künye