RESUMEN
El síndrome de fibromatosis hialina es una enfermedad autosómica recesiva rara, que se caracteriza por la presencia de contractura y dolor articular, placas y nódulos hiperpigmentados e hipertrofia gingival, producto de la acumulación de un material amorfo hialino similar al colágeno tipo VI en diferentes tejidos. Esta enfermedad incluye el síndrome de hialinosis sistémica y la fibromatosis hialina juvenil, dos entidades que, durante años, fueron consideradas de manera separada; sin embargo, las características clínicas y la edad de presentación se superponen. Además, ha sido documentado que la causa de ambas entidades se localiza en un mismo gen. Se presentan dos casos de hermanas de una misma familia colombiana afectadas por la enfermedad.
Hyaline fibromatosis syndrome is a rare autosomal recessive disease characterized by the presence of contracture and joint pain, hyperpigmented plaques and nodules and gingival hypertrophy. These findings are the result of the accumulation of a hyaline amorphous material similar to collagen type VI in different tissues. This syndrome includes systemic hyalinosis and juvenile hyaline fibromatosis, two entities that for years were considered separately. However, it has been documented that the cause of both entities is located in the same gene and the clinical features and age of presentation are overlapped. In this study two cases of sisters from a same colombian family affected by the disease are presented.
