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Surgical Pathology Criteria
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(Juvenile) Hyaline Fibromatosis

Definition

  • Hereditary disorder presenting in children characterized by hyalinized nodules in skin, subcutis and soft tissues

Alternate / Historical Names

  • Fibromatosis hyalinica multiplex juvenilis
  • Infantile systemic hyalinosis
  • Juvenile hyaline fibromatosis
  • Molluscum fibrosum
  • Murray-Puretic-Drescher syndrome

Diagnostic Criteria

  • Presents in childhood
    • Usually under age 4 years
    • Most survive into adulthood
    • Nodules continue to appear throughout life
    • Autosomal recessive
  • Clinical syndrome includes:
    • Painful joint contractures
    • Gingival hyperplasia
  • Hyalinized nodule
    • Deposits of amorphous ground substance
    • No mature collagen or elastic fibers
  • Bland fibroblasts with small dark nuclei
  • Hyaline fibromatosis may form a spectrum with infantile systemic hyalinosis
    • Present at birth
      • Most dead by 20 weeks age
    • Autosomal recessive
    • Stiff thick skin
      • Hyaline material in papillary dermis
      • Focal nodularity but not prominent
    • Gingival hyperplasia
    • Painful joint contractures
    • Visceral involvement
    • Diarrhea
    • Cases described with features of both diseases

Robert V Rouse MD
Department of Pathology
Stanford University School of Medicine
Stanford CA 94305-5342

Original posting/updates: 1/20/07, 1/29/12

Supplemental studies

Immunohistology

S100 negative
Actin negative
Collagen type I and III positive
Collagen type II and IV negative
Beta-catenin negative

Stroma is PAS and Alcian Blue positive

Genetics

  • Caused by mutation in capillary morphogenesis protein 2

    • Differential diagnosis

    Myofibromatosis Hyaline Fibromatosis
    Biphasic pattern with mature and immature areas No immature areas
    Hemangiopericytic vascular pattern No hemangiopericytic pattern
    Mature spindle cells with fusiform cytoplasm Scant cytoplasm
    Actin positive Actin negative
    Lack clinical features of syndrome Clinical features of syndrome

     

    Neurofibroma Hyaline Fibromatosis
    S100 positive S100 negative
    Lack clinical features of syndrome Clinical features of syndrome

    Clinical

    • Autosomal recessive
    • Presents in children usually under age 4 years
    • Skin, subcutaneous, soft tissue masses
      • Papulo-nodular lesions
      • Most frequent sites: scalp, neck, hands
    • Slow growing
    • Gingival hypertrophy
    • Painful flexion contractures
    • Osteolytic defects on xray
    • May have growth retardation
    • May merge clinically and histologically with infantile systemic hyalinosis
    • Local recurrences may occur but are not destructive

    Lists

    Predominantly Pediatric Fibrous Lesions

    Fibromatoses

    Bibliography

    • Kempson RL, Fletcher CDM, Evans HL, Henrickson MR, Sibley RS. Tumors of the Soft Tissues, Atlas of Tumor Pathology, AFIP Third Series, Fascicle 30, 2001
    • Fletcher CDM, Unni KK, Mertens F. Pathology and Genetics of Tumours of Soft Tissue and Bone, World Health Organization Classification of Tumours 2002
    • Weiss SW, Goldblum JR. Enzinger and Weiss's Soft Tissue Tumors, 4th edition, 2001
    • Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct;73(4):791-800.
    • Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct;73(4):957-66.
    • Larralde M, Santos-Munoz A, Calb I, Magarinos C. Juvenile hyaline fibromatosis. Pediatr Dermatol. 2001 Sep-Oct;18(5):400-2.
    • Kan AE, Rogers M. Juvenile hyaline fibromatosis: an expanded clinicopathologic spectrum. Pediatr Dermatol. 1989 Jun;6(2):68-75.
    • Bedford CD, Sills JA, Sommelet-Olive D, Boman F, Beltramo F, Cornu G. Juvenile hyaline fibromatosis: a report of two severe cases. J Pediatr. 1991 Sep;119(3):404-10.
    • Mancini GM, Stojanov L, Willemsen R, Kleijer WJ, Huijmans JG, van Diggelen OP, de Klerk JB, Vuzevski VD, Oranje AP. Juvenile hyaline fibromatosis: clinical heterogeneity in three patients. Dermatology. 1999;198(1):18-25.
    • Thway K, Gibson S, Ramsay A, Sebire NJ. Beta-catenin expression in pediatric fibroblastic and myofibroblastic lesions: a study of 100 cases. Pediatr Dev Pathol. 2009 Jul-Aug;12(4):292-6.
    • Thway K, Fisher C, Sebire NJ. Pediatric fibroblastic and myofibroblastic lesions. Adv Anat Pathol. 2012 Jan;19(1):54-65.
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