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Pediatr Dermatol. 1992 Sep;9(3):255-8.

Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis.

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Department of Dermatology, Hospital for Sick Children, London, UK.


Two unrelated infants had stiff skin and painful joint contractures in the first few months of life. Other features included gingival hyperplasia, small papules on the face and trunk, perianal nodules, and bloody diarrhea. Hyaline material was evident in the papillary dermis and gut mucosa in both patients. Ultrastructural examination revealed a distinctive fibrillogranular appearance. These infants have the same clinical, histologic, and ultrastructural features as four infants we reported previously with infantile systemic hyalinosis. One of the patients described here demonstrated some features that overlap with those of juvenile hyaline fibromatosis.

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