Neuromuscular

FACIOSCAPULOHUMERAL (FSH) DYSTROPHY


Adult FSH


H&E stain

H&E stain

H&E stain
Varied muscle fiber size: Atrophy & Hypertrophy
Regenerating (Basophilic) muscle fibers
Endomysial connective tissue: Moderately increased
Inflammation: Around intermediate sized vessel


H&E stain

H&E stain

Acid phosphatase stain
Necrotic muscle fibers: Scattered; More common in muscles with less fibrosis


ATPase, pH 4.3 stain
Small & large fibers are both types.
A few immature, type 2C, fibers are present.

(Intermediate staining; Arrow)

Sudan black stain

Lipid droplets can accumulate in the perimysium.



FSH: Other distinctive features

H&E stain
FSH fibers
Basophilic muscle fibers with clustered large nuclei

MHC-1 stain

MHC-1 is upregulated on the rim of all muscle fibers
  and normally present in the cytoplasm
  of small immature fibers.



FSH: Later stage

H&E stain
More marked variation in fiber size

NADH stain
Hypertrophied fibers have pale centers.
Some small fibers are darkly stained


ATPase pH 9.4 stain, Patient 1
Large fibers are type I & II.
Small fibers are type I & II.

ATPase pH 9.4 stain, Patient 2
Large fibers are type I & II.
Small fibers are often type II.

Congenital FSH


H&E stain
Varied muscle fiber size
Many small basophilic fibers
Mononuclear inflammatory cells around intermediate sized perimysial vessel

Congenital FSH
H&E stain
Congenital FSH: ATPase
ATPase pH 9.4 stain
Variable muscle fiber size.
Basophilic (immature) fibers.
No hypertrophy.
Endomysial inflammation.
Small fibers are Type I & II


MHC-1 stain
MHC-1: Abnormal upregulation on muscle fiber surfaces



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2/8/2012