Fibromatosis

Fibromatosis
Elizabeth A. Montgomery, MD
Key Facts
Terminology
  • Palmar fibromatosis: Dupuytren contracture, Dupuytren disease
  • Plantar fibromatosis: Ledderhose disease
  • Penile fibromatosis: Peyronie disease
  • Deep fibromatosis: Aggressive fibromatosis, desmoid tumor
    • Myofibroblastic proliferations with infiltrative growth pattern that are prone to local recurrences but do not metastasize
Clinical Issues
  • Palmar fibromatosis
    • 4-6% of Caucasian adults over 50 years of age
  • Deep fibromatosis
    • 2.4-4.43 new cases per 100,000 persons per year (Scandinavian data)
  • Recurrences common for both superficial and deep fibromatoses
  • Occasional deaths from deep fibromatoses, especially FAP-associated mesenteric fibromatosis
Microscopic Pathology
  • Sweeping fascicles of myofibroblasts
  • Smooth nuclear membranes
  • Delicate nucleoli in most cells
  • Occasional cells with stellate cytoplasmic contours
  • Occasional foci with storiform pattern similar to nodular fasciitis
  • Some cases with keloid-like collagen
  • Small but conspicuous vessels
  • Open, gaping, thin-walled vessels with perivascular sclerosis often feature of mesenteric fibromatosis
Gross photograph shows a large deep fibromatosis involving the shoulder. This lesion has eroded into the scapula, although typically fibromatoses do not erode bone.
Hematoxylin & eosin shows sweeping fascicles of spindle cells separated by regularly spaced collagen. Even at this magnification, small vessels image are readily apparent.
TERMINOLOGY
Synonyms
  • Superficial fibromatoses
    • Palmar fibromatosis: Dupuytren contracture, Dupuytren disease
    • Plantar fibromatosis: Ledderhose disease
    • Penile fibromatosis: Peyronie disease
    • Knuckle pads
  • Deep fibromatosis: Aggressive fibromatosis, desmoid tumor
Definitions
  • Palmar fibromatosis
    • Nodular myofibroblastic proliferation of volar surface of hand that is prone to local persistence but does not metastasize
  • Plantar fibromatosis
    • Nodular myofibroblastic proliferation of plantar surface of foot that is prone to local persistence but does not metastasize
  • Peyronie disease
    • Penile fibrous lesion causing various deformities; initially pain with erection, erectile dysfunction
  • Knuckle pads
    • Well-circumscribed thickening of skin over metacarpophalangeal and, more commonly, proximal interphalangeal joints
    • Some associated with Dupuytren contractures, most idiopathic
  • Deep fibromatosis
    • Myofibroblastic proliferations of deep soft tissues with infiltrative growth pattern
    • Prone to local recurrences but do not metastasize
CLINICAL ISSUES
Epidemiology
  • Incidence
    • Palmar fibromatosis
      • 4-6% of Caucasian adults over 50 years of age
      • Reports of up to 75% of Celtic men
      • Uncommon in nonwhites
      • Marked male predominance
    • Plantar fibromatosis
      • 1-2 per 100,000 persons per year (northern Europe)
      • Most patients 30-50 years of age
      • Slight male predominance
    • Penile fibromatosis
      • About 3.5% of white men over 50 years of age
    • Deep fibromatosis
      • 2.4-4.43 new cases per 100,000 persons per year (Scandinavian data)
Presentation
  • Superficial fibromatoses present as nodular lesions on palms, soles, knuckles, or penis
    • Most common in older white men
  • Deep fibromatoses present as firm large masses
    • Relationship to age and gender
      • In children, no gender predominance: Lesions of shoulders, chest wall, back, thigh, head, and neck
      • In women in childbearing years: Abdominal wall
      • In older adults, no gender predominance: Lesions of shoulders, chest wall, back, thigh, head, and neck
    • Mesenteric fibromatoses
      • Most have asymptomatic abdominal mass
      • Gastrointestinal hemorrhage or perforation
  • Lesions associated with familial adenomatous polyposis (FAP)
    • Risk of fibromatoses is 2.56/1,000 person-years
    • Comparative risk is 852x that of general population
  • Occasionally associated with scar (“cicatricial fibromatosis”)
Treatment
  • Superficial fibromatoses treated by excision
  • Nonsurgical treatments for penile lesions
    • Verapamil treatment administered by intraplaque injection
    • Colchicine, aminobenzoate potassium (Potaba), L-carnitine, and liposomal superoxide dismutase
  • Deep fibromatoses treated by wide excision
    • For unresectable lesions, radiation, chemotherapy, hormone therapy
Prognosis
  • Recurrences common for both superficial and deep fibromatoses
  • Occasional deaths from deep fibromatoses
    • FAP-associated mesenteric fibromatosis
MACROSCOPIC FEATURES
General Features
  • Superficial fibromatoses
    • Small (1-3 cm), nodular, firm, white lesions; some with gritty cut surface
    • Large, infiltrative, firm, white lesions; some with gritty cut surface
MICROSCOPIC PATHOLOGY
Histologic Features
Tags:
Jul 9, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Fibromatosis

Full access? Get Clinical Tree
Get Clinical Tree app for offline access