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, Paula Álvarez Peñalba, Norma Alejandra Callejas Pineda, Marta Loredo Martínez, Ignacio Braña Abascal, María Isabel Zapico Fernández, 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.