Soft tissue

Fibroblastic / myofibroblastic


Juvenile hyaline fibromatosis

Last author update: 1 April 2013
Last staff update: 21 September 2020

Copyright: 2002-2023,, Inc.

PubMed Search: Juvenile hyaline fibromatosis

Lauren N. Stuart, M.D., M.B.A.
Jerad M. Gardner, M.D.
Page views in 2022: 1,681
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Cite this page: Stuart L. Juvenile hyaline fibromatosis . website. Accessed June 7th, 2023.
Definition / general
  • Rare hereditary pediatric disorder with extracellular hyaline material deposition in skin, soft tissue and bone
  • Molluscum fibrosum in children (original name given by Murray, 1873), mesenchymal dysplasia (Puretic et al, 1962), disseminated painful fibromatosis
  • Also called fibromatosis hyalinica multiplex
  • Called infantile systemic hyalinosis if organ involvement, debatable if this is same disease or a distinct entity (Pediatr Dermatol 2004;21:154, J Am Acad Dermatol 2009;61:695, Hum Mutat 2009;30:583)
  • "Hyaline fibromatosis syndrome" proposed as an umbrella term for juvenile hyaline fibromatosis and infantile systemic hyalinosis since the two syndromes have significant clinicopathologic overlap (J Am Acad Dermatol 2009;61:695)
  • Infants or children under 5 years
  • No ethnic predisposition (Rheumatol Int 2011;31:273), slight male predominance
  • Occasionally presents in 4th - 5th decade
  • Skin, soft tissue, bones
Clinical features
  • Progressive, chronic, and often debilitating disease
  • Pearly papules and plaques (face, posterior neck, perianal region)
  • Large, subcutaneous nodules (most often on scalp)
  • Gingival hypertrophy
  • Flexure contractures (due to masses in periarticular soft tissue)
  • Osteolytic bone lesions of skull, long bones, phalanges (J Am Acad Dermatol 2009;61:695)
  • Anemia, hypogammaglobulinemia, hypoalbuminemia, electrolyte imbalance
Radiology description
  • Fractures, osteolytic bone lesions, osteoporosis
Case reports
Clinical images

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Multiple subcutaneous nodules

Nodules on pinna of ear

Large ulcerated nodules on back

Gingival hyperplasia

Multiple skin papules

Recurrent lesions

Gross description
  • Solid, white, waxy nodules
Gross images

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Nodules with gelatinous surface

Microscopic (histologic) description
  • Poorly circumscribed amorphous or nodular deposits of abundant, hyaline material with embedded fibroblasts in cords
  • Can have retraction artifact around fibroblasts
  • Early lesions are characterized by increased cellularity
  • No atypia, no necrosis
Microscopic (histologic) images

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Sparse, uniform spindle cells

PAS+ matrix

Amorphous hyaline matrix in dermis with fibroblasts

Dermal oval/polygonal cells with retraction artifact

Cytology description
Cytology images

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Scant spindle cells

Positive stains
Negative stains
Electron microscopy description
Differential diagnosis
Additional references
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