Leg ulcer in a patient with Rothmund–Thomson syndrome

• Published in: SpringerPlus 2015-10, Vol.4 (1), p.572-572, Article 572
• Main Authors: Ciloglu, Sinem, Duran, Alpay, Pekcan, Sirin Yasar, Buyukdogan, Hasan
• Format: Article
• Language: English
• Subjects: Case Study; Humanities and Social Sciences; Medicine; multidisciplinary; Science; Science (multidisciplinary)
• ISSN: 2193-1801; 2193-1801
• DOI: 10.1186/s40064-015-1374-z

Background Rothmund–Thomson syndrome is a rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities. Case description A 51-year-old male patient, diagnosed with Rothmund–Thomson syndrome, attended to our outpatient clinic with complaint of unhealing wound in lower part of his left leg. Over this period, he had received various local therapies such as creams, wound dressings and hyperbaric oxygen therapy but no progress could be achieved. The wound gradually enlarged. Negative pressure wound therapy was applied at −125 mmHg for 20 days. Wound was finally covered with split-thickness skin graft. Discussion and evaluation There is only one case of Rothmund–Thomson syndrome with leg ulcer reported in the literature. However, complete closure has not been achieved with non-surgical therapies in this case. Therefore we performed negative pressure wound therapy followed by skin grafting. Conclusions It is useful to treat therapy resistant wounds in Rothmund–Thomson syndrome by negative pressure, which can preserve residual vital tissue, and help clear away necrotizing tissue effectively and close the wound promptly.