RESUMEN
Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder characterized by the deposition of hyaline material in the skin, soft tissues, and bones. In this report, we discuss a case of a six-month-old male with HFS who presented with faltering growth, chronic diarrhea, multiple joint contractures, joint stiffness, hyperpigmented skin over bony prominences, gingival hypertrophy, patent foramen ovale, and symmetric periventricular hyperintensities on brain MRI. The diagnosis of HFS was confirmed by skin biopsy and genetic testing, which identified a homozygous mutation in the anthrax toxin receptor 2 (ANTXR2) gene. The patient was managed symptomatically with nutritional support, physiotherapy, analgesics, and regular dental care. He also received intralesional corticosteroid therapy, which significantly decreased the size of the skin nodules. His hyperpigmented skin and gingival hypertrophy remained stable, and the patent foramen ovale was managed conservatively. This case report highlights the importance of early diagnosis and management of HFS and the benefits of involving a multidisciplinary team to improve the quality of life of affected individuals.
