Soft tissue
Fibroblastic / myofibroblastic
Fibromatosis
Juvenile hyaline fibromatosis
Last author update: 1 April 2013
Last staff update: 21 September 2020
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PubMed Search: Juvenile hyaline fibromatosis
Table of Contents
Definition / general | Terminology | Epidemiology | Sites | Etiology | Clinical features | Laboratory | Radiology description | Case reports | Treatment | Clinical images | Gross description | Gross images | Microscopic (histologic) description | Microscopic (histologic) images | Cytology description | Cytology images | Positive stains | Negative stains | Electron microscopy description | Differential diagnosis | Additional referencesCite this page: Stuart L. Juvenile hyaline fibromatosis . PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/softtissuefibromatosishyalinica.html. Accessed June 7th, 2023.
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
- Autosomal recessive disorder; associated with consanguineous parents (J Am Acad Dermatol 2009;61:695)
- Due to mutations in capillary morphogenesis protein 2 (CMG2) gene on chromosome 4q21, which cause retention of CMG2 in endoplasmic reticulum (Hum Mutat 2009;30:583, Am J Hum Genet 2003;73:791, Am J Hum Genet 2003;73:957)
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
- 14 year old girl without prominent hyaline changes (J Cutan Pathol 2005;32:235)
- Disease in 2 siblings of first-degree consanguineous marriage (Indian J Dermatol Venereol Leprol 2005;71:115)
Treatment
- No curative treatment
- Resection of lesions for aesthetic purposes may be considered (varying results in literature)
- Intralesional steroid injections in early lesions
- Physiotherapy to prevent contractures (Indian J Dermatol 2011;56:731, Eur J Dermatol 2010;20:631)
Clinical images
Images hosted on other servers:
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
Images hosted on other servers:
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
Images hosted on other servers:
Sparse, uniform spindle cells
PAS+ matrix
Amorphous hyaline matrix in dermis with fibroblasts
Dermal oval/polygonal cells with retraction artifact
Cytology description
- Benign spindle cells with background PAS+ ground substance (Acta Cytol 2007;51:624, Indian J Dermatol 2011;56:731)
Cytology images
Images hosted on other servers:
Scant spindle cells
Positive stains
- Matrix: PAS (diastase resistant), Alcian blue
- Fibroblasts: vimentin (faint), smooth muscle actin (focally, Am J Dermatopathol 2007;29:99)
- CD68 stains macrophages adjacent to fibroblasts
Negative stains
- Matrix: toluidine blue, Congo red (Indian J Dermatol 2011;56:731)
- Fibroblasts: S100, muscle specific actin (Am J Dermatopathol 2007;29:99)
Electron microscopy description
- Fibroblasts with fibril-filled balls (dilated ER with numerous cisternae containing granular material) which displace nearly the entire cytoplasm
- The same granular material is present in extracellular spaces (Weiss, Goldblum, Folpe: Enzinger and Weiss's Soft Tissue Tumors, 2007, 5th Edition, Am J Dermatopathol 2007;29:99)
Differential diagnosis
- Gingival fibromatosis: limited to gums, collagen-rich fibrous tissue
- Lipoid proteinosis: erythematous papules and subcutaneous nodules over joints, tendons, and pressure points (Pediatr Dermatol 2004;21:154)
- Myofibromatosis, neurofibromatosis, and "turban tumor" syndrome (multiple cylindromas) are potential clinical mimics but have completely different histologic features
- Winchester syndrome: also has hypertrichosis, corneal opacities (Pediatr Dermatol 2004;21:154) but may be related entity
Additional references
