Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system

Abstract

Background: It has been suggested that juvenile hyaline fibromatosis and infantile systemic hyalinosis represent different severities of the same disease.

Objective: We sought to redefine these disorders clearly to establish a common inclusive terminology.

Patients: The study included two children with early onset of similar pink papulonodular skin lesions and marked gingival hyperplasia. The first case was characterized by flexion contractures of the large joints, fractures, persistent diarrhea, recurrent chest infections, and retarded physical growth. The second patient had large swellings on the scalp and knees without systemic involvement.

Results: Radiologic examination revealed fractures and osteolytic bone lesions in the first case, and soft tissue masses in the second case. Laboratory tests showed anemia in both cases, and hypogammaglobulinemia, hypoalbuminemia, and electrolyte imbalance in the first case. Histopathological and ultrastructural evaluation demonstrated hyalinized fibrous tissue in the dermis in both cases.

Limitations: Genetic studies were unavailable.

Conclusion: Juvenile hyaline fibromatosis and infantile systemic hyalinosis share many common features that strongly support consideration of these conditions as different expressions of the same disorder. We propose a common term, "hyaline fibromatosis syndrome," which can be divided into mild, moderate, and severe subtypes.