Pithadia Deeti J, Roman John W, Sapp Julie C, Biesecker Leslie G, Darling Thomas N
Department of Dermatology, Uniformed Services University, Bethesda, Maryland.
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
J Am Acad Dermatol. 2021 Feb;84(2):415-424. doi: 10.1016/j.jaad.2020.01.078. Epub 2020 Feb 7.
Proteus syndrome is an overgrowth disorder caused by a mosaic activating AKT1 variant. Hair abnormalities in Proteus syndrome have rarely been reported, and frequencies of such findings have not been elucidated.
To define the types and frequencies of hair findings in individuals with Proteus syndrome.
A cross-sectional study was conducted of individuals with clinical features of Proteus syndrome and a confirmed pathogenic variant in AKT1 evaluated between November 1996 and June 2019 at the National Institutes of Health Clinical Center. Medical records were reviewed for patterning, density, and color of hair on the body and scalp.
Of 45 individuals evaluated, 29 (64%) had asymmetric hypertrichosis on the body. This included unilateral blaschkoid hypertrichotic patches overlying normal skin or epidermal nevi in 16 (36%), unilateral nonblaschkoid hypertrichotic patches in 11 (24%), and unilateral limb hypertrichosis in 10 (22%). Diffuse, scattered, or patchy changes in scalp hair density or color were present in 11 individuals (24%).
The retrospective, observational design, and limited longitudinal follow-up.
Asymmetric variations in hair distribution, thickness, length, and color contribute to the overall mosaic appearance of the skin in Proteus syndrome, an observation that provides novel insights into the role of phosphoinositide 3-kinase (PI3K)-protein kinase B (AKT) signaling in skin appendage development.
变形综合征是一种由镶嵌性激活的AKT1变异引起的过度生长疾病。变形综合征中的毛发异常鲜有报道，此类发现的发生率也尚未阐明。
明确变形综合征患者毛发表现的类型和发生率。
对1996年11月至2019年6月在美国国立卫生研究院临床中心评估的具有变形综合征临床特征且AKT1基因存在确诊致病变异的患者进行了一项横断面研究。查阅病历以了解身体和头皮毛发的分布模式、密度和颜色。
在评估的45例患者中，29例（64%）身体出现不对称多毛症。其中包括16例（36%）覆盖正常皮肤或表皮痣的单侧布勒施科线样多毛斑、11例（24%）单侧非布勒施科线样多毛斑和10例（22%）单侧肢体多毛症。11例患者（24%）头皮毛发密度或颜色出现弥漫性、散在性或斑片状改变。
回顾性观察设计以及有限的纵向随访。
毛发分布、厚度、长度和颜色的不对称变化导致了变形综合征患者皮肤整体的镶嵌样外观，这一观察结果为磷酸肌醇3激酶（PI3K）-蛋白激酶B（AKT）信号通路在皮肤附属器发育中的作用提供了新的见解。
