Ullrich Congenital Muscular Dystrophy

Chronic Myopathic features

H&E stain
Chronic Myopathy (3 year-old male)
  Muscle is replaced by fat in many regions
  Endomysial connective tissue: Generally increased
  Muscle fibers: Varied sizes

H&E stain


H&E stain

H&E stain
Chronic myopathy
  • Muscle fibers
    • Size: Varied
    • Small fibers: Round
    • Internal nuclei
    • Immature fibers: Scattered
      • ATPase pH 4.3: Intermediate-color (2C)
      • NADH: Coarse internal architecture
    • Little necrosis or regeneration
  • Endomysial connective tissue: Increased
  • Cells
    • Location: Endomysial, near capillaries
    • Acid phosphatase +

H&E stain

H&E stain

Endomysial connective tissue: Increased between fibers

Gomori trichrome stain
Immature type 2C muscle fiber: Few; Scattered

ATPase pH 4.3 stain

Internal architecture: Coarse
Immature muscle fiber (top left)

NADH stain

Endomysial histiocytic cells: Scattered (Arrow)
Small necrotic muscle fiber: Replaced by histiocytic cells (Top)

Acid phosphatase stain

Connective tissue molecules: Collagen VI & IV

Collagen IV

Collagen VI

Collagen VI + Collagen IV
Collagen Locations: Normal
  • Collagen IV (Left; Orange)
    • Muscle basal lamina
    • Vessels

  • Collagen VI (Middle; Green)
    • Endomysial connective tissue
    • Vessels
    • Perimysium
    • Co-localizes in most regions with Collagen IV (Right; Yellow}

Collagen Locations: Ullrich

Collagen IV

Collagen VI

Collagen VI + Collagen IV
  • Collagen IV (Top left; Orange)
    • Muscle basal lamina
    • Vessels

  • Collagen VI (Top right; Green)
    • Endomysial connective tissue: Abnormal granular pattern
    • Muscle basal lamina: Reduced amount
    • May not co-localize with Collagen IV (Bottom Left}

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