Dermatological Clinic, Department of Clinical and Molecular Sciences, Polytechnic University of the Marche Region, Ancona, Italy.
Acta Dermatovenerol Alp Pannonica Adriat. 2022 Mar;31(1):43-46.
Trichorhinophalangeal syndrome is an autosomal dominant disease caused by mutations in TRPS gene, characterized by skeletal, skin appendage, and endocrinological manifestations. Clinical presentation may vary widely, and the syndrome frequently remains undiagnosed. The diagnosis is mainly clinical, supported by radiographic images, and is confirmed by genetic investigation. Familiarity with this genetic disorder is crucial for providing correct and early identification, and for determining adequate supportive management, especially to prevent orthopedic complications.
先天性外胚层发育不良-鼻-指（趾）综合征是一种常染色体显性遗传疾病，由 TRPS 基因突变引起，其特征为骨骼、皮肤附属器和内分泌表现。临床表现差异较大，且该综合征常被漏诊。该诊断主要基于临床特征，辅以影像学图像，并通过遗传研究得到确认。熟悉这种遗传性疾病对于正确和早期识别以及确定适当的支持性管理至关重要，特别是为了预防骨科并发症。
