Clinical, Histologic, and Ultrastructural Findings in Two Cases of Infantile Systemic Hyalinosis

Two unrelated infants had stiff skin and painful joint eontrac‐tures in the first few months of life. Other features included gingival hy‐perpiasia, small papules on the face and trunk, perianal nodules, and bloody diarrhea. Hyatine material was evident in the papillary dermis and gut mucosa in both patients. Ultrastructural examination revealed a dis‐tinctive fibrillogranuIar appearance. These infants have the same clinical, histologic, and ultrastructural features as four infants we reported previ‐ously with Infantile systemic hyalinosis. One of the patients described here demonstrated some features that overlap with those of juvenile hy‐aline fibromatosis.