Arthralgias and hip dysplasia: About tricho-rhino-phalangeal syndrome

Pablo González del Pozo, Paula Álvarez Peñalba, Norma Alejandra Callejas Pineda, Marta Loredo Martínez, Ignacio Braña Abascal, María Isabel Zapico Fernández, Sara Alonso Castro
{"title":"Arthralgias and hip dysplasia: About tricho-rhino-phalangeal syndrome","authors":"Pablo González del Pozo,&nbsp;Paula Álvarez Peñalba,&nbsp;Norma Alejandra Callejas Pineda,&nbsp;Marta Loredo Martínez,&nbsp;Ignacio Braña Abascal,&nbsp;María Isabel Zapico Fernández,&nbsp;Sara Alonso Castro","doi":"10.1016/j.rcreue.2026.102188","DOIUrl":null,"url":null,"abstract":"<div><h3>Introduction</h3><div>Tricho-Rhino-Phalangeal Syndrome (TRPS) is a rare genetic and heterogeneous entity distinguished by skeletal abnomalities, growth retardation, distinctive facial features, ectodermal alterations – thin and depigmented hair, nail dystrophy – and also variable intellectual disability.</div></div><div><h3>Objective</h3><div>We present the case of a woman patient referrered to Rheumatology because of progressive-course mechanical joint pain for few years and previous-known pathology on hips.</div></div><div><h3>Conclusion</h3><div>Although infrequent, it is a musculo-skeletal entity that must be recognised by rheumatologists.</div></div>","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 2","pages":"Article 102188"},"PeriodicalIF":0.0000,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Colombiana de Reumatología (English Edition)","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2444440526000518","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2026/5/21 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Introduction

Tricho-Rhino-Phalangeal Syndrome (TRPS) is a rare genetic and heterogeneous entity distinguished by skeletal abnomalities, growth retardation, distinctive facial features, ectodermal alterations – thin and depigmented hair, nail dystrophy – and also variable intellectual disability.

Objective

We present the case of a woman patient referrered to Rheumatology because of progressive-course mechanical joint pain for few years and previous-known pathology on hips.

Conclusion

Although infrequent, it is a musculo-skeletal entity that must be recognised by rheumatologists.
关节痛和髋关节发育不良:关于肱鼻指骨综合征
tricho - rhino - phalangeal Syndrome (TRPS)是一种罕见的遗传异质性实体,其特征是骨骼异常、生长迟缓、独特的面部特征、外胚层改变(头发稀疏和色素沉着、指甲营养不良)以及可变的智力残疾。目的:我们提出的情况下,一名女性患者转介风湿病,因为进行性的机械关节疼痛了几年,以前已知的病理在臀部。结论虽然不常见,但它是一种必须被风湿病学家识别的肌肉骨骼实体。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书