Akademik Veri Yönetim Sistemi
Journal of Anatolian Medical Research, cilt.2, sa.2, ss.48-53, 2017 (Hakemli Dergi)
Rothmund Thomson syndrome, also known as Poikiloderma congenital, is an autosomal recessive and rarely seen syndrome characterized with poikiloderma in infant age. Developmental risk of mesenchymal malignity is increased in disease which abnormalities of eye and skeletal systems are associated. A 6 years old girl was presented with poikiloderma (atrophy, hypopigmentation, hyperpigmentation, and telangiectasia) on face and trunk, photosensitivity, hyperkeratosis on both plantar region and nail dystrophy. Diagnosis was Rothmund Thomson syndrome. Sun avoidance and topical treatments were advised to the patient. We reported our case because it is rarely seen.
Keywords: infant, poikiloderma congenital, Rothmund Thomson syndrome