Artralgias y displasia de cadera: sobre el síndrome trico-rino-falángico

IF 0.5 Q3 Health Professions
Revista Colombiana de Reumatologia Pub Date : 2026-04-01 Epub Date: 2025-07-15 DOI:10.1016/j.rcreu.2025.04.006
Pablo González del Pozo, Paula Álvarez Peñalba, Norma Alejandra Callejas Pineda, Marta Loredo Martínez, Ignacio Braña Abascal, María Isabel Zapico Fernández, Sara Alonso Castro
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引用次数: 0

Abstract

Introduction

Tricho-Rhino-Phalangeal Syndrome (TPRS) 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 infrequently, it is a musculo-skeletal entity that must be recognised by rheumatologists.
髋关节痛和髋关节发育不良:关于三环-鼻-法兰综合征
tricho - rhino - phalangeal Syndrome (TPRS)是一种罕见的遗传异质性疾病,主要表现为骨骼异常、生长迟缓、独特的面部特征、外胚层改变(头发稀疏、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,但风湿病学家必须认识到这是一种肌肉骨骼实体。
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来源期刊
Revista Colombiana de Reumatologia
Revista Colombiana de Reumatologia Medicine-Rheumatology
CiteScore
0.80
自引率
0.00%
发文量
92
期刊介绍: The Colombian Journal of Rheumatology (Revista Colombiana de Reumatología) is the official organ of the Colombian Association of Rheumatology (Asociación Colombiana de Reumatología) and the Central American, Caribbean and Andean Association of Rheumatology (Asociación Centroamericana Caribe Andina de Reumatología) - ACCA. It was created in December 1993 with the purpose of disseminating scientific information derived from primary and secondary research and presenting cases coming from the practice of Rheumatology in Latin America. Since its foundation, the Journal has been characterized by its plurality with subjects of all rheumatic and osteomuscular pathologies, in the form of original articles, historical articles, economic evaluations, and articles of reflection and education in Medicine. It covers an extensive area of topics ranging from the broad spectrum of the clinical aspects of rheumatology and related areas in autoimmunity (both in pediatric and adult pathologies), to aspects of basic sciences. It is an academic tool for the different members of the academic and scientific community at their different levels of training, from undergraduate to post-doctoral degrees, managing to integrate all actors inter and trans disciplinarily. It is intended for rheumatologists, general internists, specialists in related areas, and general practitioners in the country and abroad. It has become an important space in the work of all rheumatologists from Central and South America.
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