Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome.
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.
Altunay
Ilknur
I
Department of Dermatology, Sisli Etfal Research and Training Hospital, Veysi Paşa sok. Yucekent sit E/16, Altunizade-Istanbul, Turkey. ialtunay@gmail.com
Fisek
Neslihan
N
Gokdemir
Gonca
G
Sakız
Damlanur
D
Cetincelik
Umran
U
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
D000900:Anti-Bacterial Agents