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.
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.