Morais Paulo, Santos António Luís, Baudrier Teresa, Mota Alberto Vieira, Oliveira João Paulo, Azevedo Filomena
Department of Dermatology and Venereology, Hospital S. João, Porto, Portugal.
J Cosmet Laser Ther. 2008 Dec;10(4):218-22. doi: 10.1080/14764170802275832.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A. Angiokeratomas (AKs) are a frequent manifestation of this disease. They usually become apparent during childhood and can cause important cosmetic disability. Current treatment of this feature in the setting of FD has been mainly based on the application of laser systems, namely the argon laser, the variable pulse width 532-nm Nd:YAG laser, the 578-nm copper vapor laser and the flashlamp-pumped pulsed dye laser. We report the case of a 31-year-old Caucasian woman with a clinical and molecular (GLA p.R118C) diagnosis of FD, presenting multiple AKs scattered over the buttocks and thighs. She was treated with 10 sessions of intense pulsed light (IPL), with a 4-8-week interval between them. An almost complete clearance of the lesions was obtained, with no scars or significant complaints. No recurrence occurred during a 12-month follow-up period. The IPL source can be considered a suitable, effective and safe treatment modality for these cutaneous lesions that typically affect patients with FD, with no need for local anesthesia and with very satisfactory cosmetic results. To our best knowledge, there are no reports in the literature of Fabry's AKs treated with IPL.
法布里病（FD）是一种罕见的X连锁溶酶体贮积症，由α-半乳糖苷酶A活性缺乏引起。血管角质瘤（AKs）是该疾病的常见表现。它们通常在儿童期出现，并可导致严重的美容缺陷。目前，在FD背景下针对这一特征的治疗主要基于激光系统的应用，即氩激光、可变脉宽532nm Nd:YAG激光、578nm铜蒸气激光和闪光灯泵浦脉冲染料激光。我们报告了一例31岁的白种女性，临床及分子诊断（GLA p.R118C）为FD，臀部和大腿散在多个AKs。她接受了10次强脉冲光（IPL）治疗，每次治疗间隔4 - 8周。病变几乎完全清除，无疤痕或明显不适。在12个月的随访期内未出现复发。IPL光源可被认为是治疗这些通常影响FD患者的皮肤病变的一种合适、有效且安全的治疗方式，无需局部麻醉，美容效果非常令人满意。据我们所知，文献中尚无IPL治疗法布里血管角质瘤的报道。
