Infantile Systemic Hyalinosis: A Case Report and Literature Review

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterozygous group of genetic fibromatosis. There is a diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle, lymph node, spleen, thyroid, and adrenal gland due to which it presents clinically with multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, and diarrhea with protein-losing enteropathy, and is associated with recurrent infections. The disease is caused by mutations in ANTXR2 also known as the CMG2 gene, which encodes the transmembrane-extracellular matrix assembly. In this report, we describe a nine-month-old male diagnosed with ISH based on the clinical presentation of severe skin lesions, painful joint contractures, diarrhea, and failure to thrive. His diagnosis was confirmed by molecular DNA sequencing of the ANTXR2 gene. Consanguinity and molecular diagnosis will be helpful for early diagnosis and accurate management.