title: Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome.
abstract: Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, skeletal abnormalities, short stature, juvenile cataract and predisposition to skin and bone malignancies. Data from the literature suggest that cutaneous findings of the syndrome include genetically programmed ageing changes and DNA repair abnormalities related to photosensitivity. Our patient is a 23-year-old male who presented with an unhealing ulcer for one and a half year on his left leg. Although he had received many various treatments, there had been no significant improvement during this period. We believe that this failure of healing might be to DNA repair abnormalities of fibroblasts. To our knowledge, this is the first case reported with coexistence of an unhealing ulcer without any findings of malignancy and RTS.
authors.affiliation: Department of Dermatology, Sisli Etfal Research and Training Hospital, Veysi Paşa sok. Yucekent sit E/16, Altunizade-Istanbul, Turkey. ialtunay@gmail.com
authors.forename: Ilknur
authors.initials: I
authors.lastname: Altunay
authors.forename: Neslihan
authors.initials: N
authors.lastname: Fisek
authors.forename: Gonca
authors.initials: G
authors.lastname: Gokdemir
authors.forename: Damlanur
authors.initials: D
authors.lastname: Sakız
authors.forename: Umran
authors.initials: U
authors.lastname: Cetincelik
mesh_terms: D000328:Adult; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D001706:Biopsy; D002908:Chronic Disease; D003241:Consanguinity; D004260:DNA Repair / Q000235:genetics; D005347:Fibroblasts / Q000502:physiology; D006801:Humans; D007871:Leg Ulcer / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D008297:Male; D011552:Pseudomonas Infections / Q000209:etiology / Q000628:therapy; D035583:Rare Diseases; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000235:genetics; D017592:Skin Care / Q000379:methods; D013203:Staphylococcal Infections / Q000209:etiology / Q000628:therapy; D014945:Wound Healing; D014946:Wound Infection / Q000175:diagnosis / Q000209:etiology / Q000628:therapy
chemical_list: D000900:Anti-Bacterial Agents