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Juvenile Hyaline Fibromatosis
Eric Walker, MD, MHA, FACR, FACHE; Behrang Amini, MD, PhD; Lauren M. Ladd, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Molluscum fibrosum, mesenchymal dysplasia, fibromatosis hyalinica multiplex juvenilis, Puretic syndrome, systemic hyalinosis, hyaline fibromatosis syndrome, infantile systemic hyalinosis, disseminated painful fibromatosis, multiple fibromata
            • Definitions

              • Rare congenital disease producing subcutaneous tumors, gingiva hypertrophy, lytic bone lesions, and flexion joint contractures

            IMAGING

            • General Features

              • Radiographic Findings

                • MR Findings

                  • Sonography

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Staging, Grading, & Classification

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      Selected References

                                      1. Liu Y et al: Hyaline fibromatosis syndrome: a case presenting with gingival enlargement as the only clinical manifestation and a report of two new mutations in the ANTXR2 gene. BMC Oral Health. 21(1):508, 2021
                                      2. Mendiratta V et al: Multiple scalp tumors in juvenile hyaline fibromatosis with antxr-2 mutation in a family. Indian J Dermatol. 66(3):330, 2021
                                      3. Song L et al: Juvenile hyaline fibromatosis: a clinicopathological study of five cases. Ann Diagn Pathol. 55:151835, 2021
                                      4. Braizat O et al: Juvenile hyaline fibromatosis: literature review and a case treated with surgical excision and corticosteroid. Cureus. 12(10):e10823, 2020
                                      5. Davis JL: Juvenile hyaline fibromatosis. In Fletcher CDM et al: World Health Organization Classification of Tumours: Soft Tissue and Bone Tumours. 5th ed. IARC Press. 63-4, 2020
                                      6. Castiglione D et al: Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution. Skeletal Radiol. 47(3):425-31, 2018
                                      7. Çam B et al: Juvenile hyaline fibromatosis: a case report follow-up after 3 years and a review of the literature. Int J Dermatol. 54(2):217-21, 2015
                                      8. Kransdorf MJ et al: Fibrous and fibrohistiocytic tumors. In Kransdorf MJ et al: Imaging of Soft Tissue Tumors. 3rd ed. Lippincott Williams & Wilkins. 255-7, 2014
                                      9. Jaouad IC et al: Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report. J Med Case Rep. 8:291, 2014
                                      10. Raeeskarami SR et al: Infantile systemic hyalinosis: report of 17-year experience. Iran J Pediatr. 24(6):775-8, 2014
                                      11. Van Raak SM et al: Hyaline fibromatosis of Hoffa's fat pad in a patient with a mild type of hyaline fibromatosis syndrome. Skeletal Radiol. 43(4):531-4, 2014
                                      12. Weiss SW et al: Fibrous tumors of infancy and childhood. In Weiss SW et al: Enzinger and Weiss' Soft Tissue Tumors. 5th ed. Elsevier. 269-72, 2008
                                      13. O' Connell J: Juvenile hyaline fibromatosis. In Fletcher CDM et al: World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone. IARC Press. 63-4, 2002
                                      14. Keser G et al: Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature. Clin Rheumatol. 18(3):248-52, 1999
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Synonyms

                                                  • Molluscum fibrosum, mesenchymal dysplasia, fibromatosis hyalinica multiplex juvenilis, Puretic syndrome, systemic hyalinosis, hyaline fibromatosis syndrome, infantile systemic hyalinosis, disseminated painful fibromatosis, multiple fibromata
                                                • Definitions

                                                  • Rare congenital disease producing subcutaneous tumors, gingiva hypertrophy, lytic bone lesions, and flexion joint contractures

                                                IMAGING

                                                • General Features

                                                  • Radiographic Findings

                                                    • MR Findings

                                                      • Sonography

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Staging, Grading, & Classification

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          Selected References

                                                                          1. Liu Y et al: Hyaline fibromatosis syndrome: a case presenting with gingival enlargement as the only clinical manifestation and a report of two new mutations in the ANTXR2 gene. BMC Oral Health. 21(1):508, 2021
                                                                          2. Mendiratta V et al: Multiple scalp tumors in juvenile hyaline fibromatosis with antxr-2 mutation in a family. Indian J Dermatol. 66(3):330, 2021
                                                                          3. Song L et al: Juvenile hyaline fibromatosis: a clinicopathological study of five cases. Ann Diagn Pathol. 55:151835, 2021
                                                                          4. Braizat O et al: Juvenile hyaline fibromatosis: literature review and a case treated with surgical excision and corticosteroid. Cureus. 12(10):e10823, 2020
                                                                          5. Davis JL: Juvenile hyaline fibromatosis. In Fletcher CDM et al: World Health Organization Classification of Tumours: Soft Tissue and Bone Tumours. 5th ed. IARC Press. 63-4, 2020
                                                                          6. Castiglione D et al: Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution. Skeletal Radiol. 47(3):425-31, 2018
                                                                          7. Çam B et al: Juvenile hyaline fibromatosis: a case report follow-up after 3 years and a review of the literature. Int J Dermatol. 54(2):217-21, 2015
                                                                          8. Kransdorf MJ et al: Fibrous and fibrohistiocytic tumors. In Kransdorf MJ et al: Imaging of Soft Tissue Tumors. 3rd ed. Lippincott Williams & Wilkins. 255-7, 2014
                                                                          9. Jaouad IC et al: Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report. J Med Case Rep. 8:291, 2014
                                                                          10. Raeeskarami SR et al: Infantile systemic hyalinosis: report of 17-year experience. Iran J Pediatr. 24(6):775-8, 2014
                                                                          11. Van Raak SM et al: Hyaline fibromatosis of Hoffa's fat pad in a patient with a mild type of hyaline fibromatosis syndrome. Skeletal Radiol. 43(4):531-4, 2014
                                                                          12. Weiss SW et al: Fibrous tumors of infancy and childhood. In Weiss SW et al: Enzinger and Weiss' Soft Tissue Tumors. 5th ed. Elsevier. 269-72, 2008
                                                                          13. O' Connell J: Juvenile hyaline fibromatosis. In Fletcher CDM et al: World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone. IARC Press. 63-4, 2002
                                                                          14. Keser G et al: Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature. Clin Rheumatol. 18(3):248-52, 1999