Department of Clinical and Experimental Medicine, Unit of Dermatology, University of Pisa, Pisa, Italy.
Wounds. 2023 Mar;35(3):E123-E125. doi: 10.25270/wnds/22051.
Dubowitz syndrome is a rare genetic disease with only a few cases reported in the literature. It is characterized by growth retardation, microcephaly, facial dysmorphism and higher risk of developing cancer and cardiomyopathies. PG is an autoinflammatory disorder that causes painful ulcers to develop on the skin and has not been previously associated with Dubowitz syndrome.
The authors report the case of a 50-year-old female with Dubowitz syndrome who developed painful ulcerative lesions. An incisional biopsy was performed to rule out other diagnoses, and a subsequent clinical diagnosis of PG was made. The patient was treated with specialized wound dressings and oral glucocorticoids. The clinical picture improved consistently after 7 weeks of therapy.
This case report, to the authors' knowledge, is the first to suggest a possible association between Dubowitz syndrome and PG and also to indicate an effective treatment.
杜氏综合征是一种罕见的遗传性疾病，文献中仅报道过少数病例。其特征为生长迟缓、小头畸形、面部畸形，且癌症和心肌病的发病风险更高。PG 是一种自身炎症性疾病，可导致皮肤出现疼痛性溃疡，但以前与杜氏综合征无关。
作者报告了一例 50 岁女性杜氏综合征患者，其出现疼痛性溃疡性病变。为排除其他诊断进行了切开活检，并随后临床诊断为 PG。患者接受了专门的伤口敷料和口服糖皮质激素治疗。经过 7 周的治疗，临床症状持续改善。
据作者所知，本病例报告首次提示杜氏综合征和 PG 之间可能存在关联，并表明了一种有效的治疗方法。
