Sporadic nemalin myopathy with atypical skin involvement responding to immunoglobulins

A Danish team presents the case of a 59-year-old woman with atypical sporadic late-onset nemaline myopathy (SLONM):

• skin manifestations (redness and phlyctenes on the extremities and trunk) preceded the onset of neuromuscular symptoms by one year;
• the residual thymus showed follicular hyperplasia;
• Muscle biopsy revealed rods and abnormal mitochondria;
• the electromyogram revealed not only myopathic signs but also neuromuscular abnormalities.

Treatment with intravenous immunoglobulins every 5 to 6 weeks improved both muscle symptoms and skin signs.

 

Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment. Nandy A, Tankisi H, Krøigård AB et al. BMC Neurol. 2023 Jun 16;23(1):233.