评估局灶性真皮发育不全患者皮肤、毛发、指甲和骨骼疾病的横断面研究。
Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia.
作者信息
Gunasekera Nicole S, Divito Joan K, Kupper Thomas S, Huang Jennifer T, Divito Sherrie J
机构信息
Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts.
Harvard Medical School, Boston, Massachusetts.
出版信息
Pediatr Dermatol. 2017 Mar;34(2):197-198. doi: 10.1111/pde.13056. Epub 2016 Dec 26.
Focal dermal hypoplasia (FDH) is an X-linked dominant disease characterized by dermal thinning and fat herniation with other ectodermal and mesodermal abnormalities. There is limited literature regarding the symptomatology and progression of skin, hair, and nail disease. The risk of bone fragility has not been explored either. This cross-sectional survey-based study explored these gaps in knowledge and provides direction for future avenues of research in FDH.
局灶性真皮发育不全（FDH）是一种X连锁显性疾病，其特征为真皮变薄和脂肪疝出，并伴有其他外胚层和中胚层异常。关于皮肤、毛发和指甲疾病的症状学和进展的文献有限。骨脆性风险也尚未得到研究。这项基于横断面调查的研究探索了这些知识空白，并为未来FDH的研究方向提供了指导。
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