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.

Figure 1

(A) Characteristic face appearance, poikilodermic skin changes on the cheeks, saddle nose, propitotic eyeballs, and lateral alopecia of the eyebrows. (B) Small hands, swan‐neck deformity, and dystrophic fingers and nails.

Figure 2

(A) Initial appearance of the leg ulcer. (B) The appearance of the leg ulcer with purulent material after 1 month’ treatment. No remission exists.

Figure 3

(A) Histopathological findings of the ulcer (HEx40). (B) Histopathological findings of the non ulcerous and atrophic skin of the arm; Atrophic epidermis and regionally sclerotic dermis are noticeable (HEx40).