Deo Kirti, Sharma Yugal K, Shah Bhavika, Kothari Preeti, Chavan Dhanraj, Sitaniya Sakshi, Gupta Aayush
Department of Dermatology, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Pune, Maharashtra, India.
Department of Dermatology, Krishna Institute of Medical Sciences, Hyderabad, Telangana, India.
J Cutan Aesthet Surg. 2019 Oct-Dec;12(4):244-247. doi: 10.4103/JCAS.JCAS_17_19.
Ectodermal dysplasias are a complex group of heterogenous, heritable disorders entailing two or more developmental abnormalities in ectodermal structures, such as hair, teeth, nails, and/or sweat glands. The most common subtype of these disorders is X-linked hypohidrotic that significantly impairs the quality of life of its sufferers. A 15-year-old boy, who sought the treatment for protuberant lips, saddle nose, dental anomalies, fine sparse hair, decreased sweating, intolerance to heat and photosensitivity, experienced dramatic improvement in his quality of life and confidence with aesthetic correction comprising autologous fat grafting, rhinoplasty, lip reduction, microblading and comprehensive prosthodontic and orthodontic treatments undertaken in collaboration with dental and plastic surgery departments and expert psychological counseling.
外胚层发育不良是一组复杂的异质性遗传性疾病，涉及外胚层结构（如头发、牙齿、指甲和/或汗腺）的两种或更多种发育异常。这些疾病最常见的亚型是X连锁少汗型，会严重损害患者的生活质量。一名15岁男孩因嘴唇突出、鞍鼻、牙齿异常、头发纤细稀疏、出汗减少、不耐热和光敏性前来寻求治疗。通过与牙科和整形外科部门合作进行的自体脂肪移植、隆鼻术、唇部缩小术、纹眉以及全面的修复和正畸治疗，并辅以专业心理咨询，他的生活质量和自信心得到了显著改善。
