Soft tissue
Fibroblastic / myofibroblastic tumors
Juvenile hyaline fibromatosis

Author: Lauren N. Stuart, M.D., M.B.A. (see Authors page)
Editor: Jerad M. Gardner, M.D.

Revised: 26 August 2016, last major update April 2013

Copyright: (c) 2002-2016, PathologyOutlines.com, Inc.

PubMed Search: Juvenile hyaline fibromatosis

Definition / General
  • Rare hereditary pediatric disorder with extracellular hyaline material deposition in skin, soft tissue and bone
Terminology
  • 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)
Epidemiology
  • Infants or children under 5 years
  • No ethnic predisposition (Rheumatol Int 2011;31:273), slight male predominance
  • Occasionally presents in 4th - 5th decade
Sites
  • Skin, soft tissue, bones
Etiology
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)
Laboratory
  • Anemia, hypogammaglobulinemia, hypoalbuminemia, electrolyte imbalance
Radiology Description
  • Fractures, osteolytic bone lesions, osteoporosis
Case Reports
Treatment
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

Micro 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
Micro 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