Neuromuscular

FACIOSCAPULOHUMERAL (FSH) DYSTROPHY


Adult FSH




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


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 are accumulating in the perimysium.




H&E stain
Biopsy from another FSH patient
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

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



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11/12/2004