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
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
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
Song L et al: Juvenile hyaline fibromatosis: a clinicopathological study of five cases. Ann Diagn Pathol. 55:151835, 2021
Braizat O et al: Juvenile hyaline fibromatosis: literature review and a case treated with surgical excision and corticosteroid. Cureus. 12(10):e10823, 2020
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
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
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
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
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
Raeeskarami SR et al: Infantile systemic hyalinosis: report of 17-year experience. Iran J Pediatr. 24(6):775-8, 2014
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
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
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
Keser G et al: Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature. Clin Rheumatol. 18(3):248-52, 1999
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
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
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
Song L et al: Juvenile hyaline fibromatosis: a clinicopathological study of five cases. Ann Diagn Pathol. 55:151835, 2021
Braizat O et al: Juvenile hyaline fibromatosis: literature review and a case treated with surgical excision and corticosteroid. Cureus. 12(10):e10823, 2020
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
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
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
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
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
Raeeskarami SR et al: Infantile systemic hyalinosis: report of 17-year experience. Iran J Pediatr. 24(6):775-8, 2014
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
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
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
Keser G et al: Two siblings with juvenile hyaline fibromatosis: case reports and review of the literature. Clin Rheumatol. 18(3):248-52, 1999
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