Revista Médica de la Universidad de Costa Rica

PROPOSAL FOR PHYSIOTHERAPEUTIC APPROACH IN PEOPLE DIAGNOSED WITH EHLERS-DANLOS SYNDROME

Elías Acuña Ferreto — 2025-02-11

Ehlers-Danlos Syndrome (EDS) is defined as a heterogeneous group of inherited disorders associated with connective tissue caused by abnormal collagen synthesis. Among its main symptoms, muscle weakness, increased joint range of motion, and dislocations and subluxations stand out. Under these considerations, and in accordance with the Physiotherapeutic Care Process that this entails, including some phases such as examination, diagnosis and treatment, some principles are proposed to take into account during the clinical approach to the person diagnosed with EDS. Along with this, other essential strategies are also proposed during the approach, such as the education processes and recommendations provided for the people served, using therapeutic exercise and physical activity as key elements for maintaining health. As part of the particularities of the symptoms associated with EDS, and ensuring the affinity of physiotherapy interventions, pain management in this population is also discussed.

Case report: first diagnosis of VEXAS Syndrome in Costa Rica

Rodrigo Masís-Mejía — 2025-04-07

Introduction: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is an autoinflammatory condition caused by somatic mutations in the UBA1 gene on the X chromosome. Materials: We present the case of a 65-year-old male with relapsing polychondritis admitted with severe systemic inflammation, fever, deep vein thrombosis, and myelodysplasia. Infectious and rheumatologic causes were ruled out. Results: Genetic sequencing confirmed a UBA1 mutation. Conclusion: Steroid treatment led to rapid clinical improvement and decreased inflammatory parameters.

Rare association: Mazabraud syndrome and McCune-Albright syndrome

José Gerardo López Sáenz — 2025-05-30

A 59-year-old female patient with type 2 diabetes mellitus, chronic bone pain and hyperthyroidism without treatment, as well as multiple fractures since childhood, early puberty and recently diagnosed intramuscular myxoma, was admitted to internal medicine unit to establish a clinical syndrome. Imaging and nuclear medicine studies were carried out and polyostotic fibrous dysplasia was documented, which in association with intramuscular myxoma are characteristic of Mazabraud's syndrome. In addition, the correlation between precocious puberty, endocrine dysfunction and a single café-au-lait spot on the back was made, which allowed establishing the clinical diagnosis of McCune-Albright syndrome. The case of the association of these two rare syndromes is presented.

EVALUATION OF COMPLIANCE WITH LABELING REGULATIONS AND ABSENCE OF FORMALDEHYDE IN KERATIN HAIR TREATMENTS SOLD IN SAN JOSÉ, COSTA RICA IN 2024

Jeimy Blanco Barrantes — 2025-05-21

Cosmetics are health-related products that, due to their composition, use, or function, have the potential to impact people's health. The labels of these products must provide the necessary information for their proper and safe use, which is why labeling is regulated. Formaldehyde was used in some hair cosmetics for its straightening properties; however, its use is currently prohibited. This work aimed to verify compliance with the labeling regulations and demonstrate the absence of formaldehyde in keratin treatments available for sale in San José, Costa Rica. A colorimetric method was used for quantifying formaldehyde in the samples due to its sensitivity, speed, and cost-effectiveness. 18 products were analyzed, of which only 4 (22 %) met all the requirements of the current labeling regulations and 3 (17 %) products were found to have a concentration of formaldehyde between 3 and 4 %. These results show the need to maintain and reinforce controls in the national market for products of health interest.