Skin necrosis in spinal muscular atrophy: Case report and review of the literature

Spinal muscular atrophy (SMA) type 0 is the most severe phenotype of SMA and is characterized by hypotonia, muscle weakness, and respiratory distress. Cutaneous necrosis, first described in an SMA mouse model, can occur in patients with severe disease; the use of targeted treatment versus supportive measures in the setting of skin necrosis is debated. We present a male infant with SMA type 0 with cutaneous necrosis of proximal and distal limbs who improved with supportive care. The seven previously reported cases of SMA skin necrosis are reviewed.