Melo Daniel Fernandes, de Almeida Rita Fernanda Cortez, Machado Carla Jorge, Benez Marcela, Neto Pedro da Rocha Andrade, Donda André Luiz Vairo, Melhado Isabela Peron, Kondo Rogerio Nabor, Frattini Sidney, Pinto Giselle, Donati Aline
Department of Dermatology, Rio de Janeiro State University, Rio de Janeiro, Brazil.
Preventive and Social Medicine Department, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Dermatol Pract Concept. 2025 Jul 31;15(3):5285. doi: 10.5826/dpc.1503a5285.
Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by trichological, craniofacial, and skeletal abnormalities. To date, limited data are available on hair involvement in TRPS, especially those focusing on trichoscopy.
We aimed to describe the epidemiology and the clinical and trichoscopy features of TRPS.
We performed a retrospective multicenter study using chart review and images from six patients with a confirmed diagnosis of TRPS. Hair density (hair/field; field 13×1.4 mm) was classified as high (>30), medium (21-30), low (11-20), very low (5-10), or hairless (<4). The distance between follicular units, ranging from 1.0 mm to 1.4 mm, was considered normal.
Most patients were females, with a median age of 12 at diagnosis. Hair density ranged from very low to medium. All female patients presented a high occipital hairline. Our patients had exclusively non-terminal hairs and no case with high hair density, following the literature, which describes thin and sparse hairs. Hair density was related to a higher proportion of single hair units, while the distance between follicles was within normal limits.
TRPS is notably uncommon, with hair alterations being important for diagnosis, where trichoscopy serves as a valuable tool. Our study found a normal hair diameter relationship (frontal ≥ occipital) in females, while the male patient exhibited frontal-occipital inversion. Low hair density may result from an increased number of single hair units rather than from follicular distance. The high occipital hairline is proposed as a diagnostic pearl, warranting further studies to validate our findings.
毛发鼻指综合征（TRPS）是一种罕见的常染色体显性遗传病，其特征为毛发、颅面和骨骼异常。迄今为止，关于TRPS患者毛发受累情况的数据有限，尤其是聚焦于毛发镜检查的相关数据。
我们旨在描述TRPS的流行病学、临床及毛发镜特征。
我们进行了一项回顾性多中心研究，通过查阅病历及6例确诊为TRPS患者的图像资料。毛发密度（每视野毛发数量；视野为13×1.4 mm）分为高（>30）、中（21 - 30）、低（11 - 20）、极低（5 - 10）或无毛（<4）。毛囊单位之间的距离在1.0 mm至1.4 mm之间被视为正常。
大多数患者为女性，确诊时的中位年龄为12岁。毛发密度范围从极低到中等。所有女性患者均表现为高枕部发际线。根据文献描述，我们的患者均仅有毳毛，且无毛发密度高的病例，毛发均细而稀疏。毛发密度与单根毛发单位比例较高有关，而毛囊之间的距离在正常范围内。
TRPS极为罕见，毛发改变对诊断很重要，毛发镜检查是一种有价值的工具。我们的研究发现女性患者毛发直径关系正常（额部≥枕部），而男性患者表现为额枕部倒置。毛发密度低可能是由于单根毛发单位数量增加而非毛囊间距所致。高枕部发际线被认为是一个诊断要点，需要进一步研究以验证我们的发现。
