Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study.

IF 2.3 4区 医学 Q2 DERMATOLOGY
Daniel Fernandes Melo, Rita Fernanda Cortez de Almeida, Carla Jorge Machado, Marcela Benez, Pedro da Rocha Andrade Neto, André Luiz Vairo Donda, Isabela Peron Melhado, Rogerio Nabor Kondo, Sidney Frattini, Giselle Pinto, Aline Donati
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Abstract

Introduction: 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.

Objective: We aimed to describe the epidemiology and the clinical and trichoscopy features of TRPS.

Methods: 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.

Results: 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.

Conclusion: 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.

一项多中心回顾性研究:鼻毛叉综合征的临床和毛镜特征。
Trichorhinophalangeal综合征(TRPS)是一种罕见的常染色体显性遗传疾病,以毛发、颅面和骨骼异常为特征。迄今为止,关于TRPS中头发的影响的数据有限,特别是那些关注于毛发镜检查的数据。目的:探讨TRPS的流行病学特点、临床及毛镜检查特点。方法:我们进行了一项回顾性的多中心研究,使用了6例确诊为TRPS的患者的图表和图像。发密度(发/场;范围13×1.4 mm)分为高(bbb30)、中(21-30)、低(11-20)、极低(5-10)或无毛(结果:大多数患者为女性,诊断时中位年龄为12岁。头发密度从极低到中等。所有女性患者均表现为枕部发际线高。我们的病人都是非终末发,没有高发密度的病例,按照文献描述,头发稀疏。毛发密度与较高的单发单位比例有关,而毛囊之间的距离在正常范围内。结论:TRPS非常罕见,头发改变对诊断很重要,其中毛发镜检查是一种有价值的工具。我们的研究发现,女性患者的头发直径关系正常(额≥枕),而男性患者表现为额枕倒置。头发密度低可能是由于单发单位数量的增加而不是毛囊距离的增加。高枕发际线被认为是一个诊断珍珠,需要进一步的研究来验证我们的发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
1.40
自引率
0.00%
发文量
217
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