背景:色素镶嵌(PM),也被称为Blaschkoid色素沉着,是一种罕见的色素异常。尽管已经发表了一些病例报告,描述了与PM相关的皮外表现,关于PM患者的临床特征的研究很少。
目的:描述PM患者的临床特征。
方法:这项描述性横断面研究是在皮肤科医生和儿科医生检查的47名儿童中进行的。PM的模式和位置,记录了色素沉着的类型和皮肤外表现.
结果:最常见的PM模式是窄带PM,其次是宽带和棋盘图案。后备箱是受影响最严重的地区,其次是腿和胳膊。51.1%的PM表现为色素沉着减退,色素沉着过度占27.6%,以及21.2%的低/色素沉着。40.4%的患者存在伴随疾病:神经精神疾病是最常见的,其次是内分泌或血液系统疾病和生长/发育迟缓。
结论:PM与一些皮外发现有关,但仍存在一些争论,这些关联是否反映了不同的PM表型,或者它们是否只是巧合。我们的研究表明,PM患者的皮外受累很频繁,因此需要对PM患者进行仔细检查。
BACKGROUND: Pigmentary mosaicism (PM), also known as
Blaschkoid dyspigmentation, is a rare pigmentary anomaly. Although several case reports have been published describing extracutaneous manifestations associated with PM, there are very few studies on the clinical characteristics of patients with PM.
OBJECTIVE: To describe the clinical characteristics of patients with PM.
METHODS: This descriptive cross-sectional study was conducted among 47 children examined by a dermatologist and a pediatrician. The pattern and location of the PM, type of pigmentation and extracutaneous manifestations were documented.
RESULTS: The most common pattern of PM was narrow-band PM, followed by broad-band and checkerboard patterns. The trunk was the most affected region, followed by the legs and arms. PM manifested as hypopigmentation in 51.1% of cases, as hyperpigmentation in 27.6%, and as hypo/hyperpigmentation in 21.2%. Accompanying diseases were present in 40.4% of patients: neuropsychiatric diseases were the most common, followed by endocrinological or hematological diseases and growth/developmental delay.
CONCLUSIONS: PM has been associated with several extracutaneous findings but there is still some debate whether these associations reflect different PM phenotypes or whether they are simply coincidental. Our study suggests that extracutaneous involvement in PM patients is frequent, thus warranting careful examination of PM patients.