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Skin necrosis in spinal muscular atrophy: Case report and review of the literature
Author(s) -
Weissman Amanda S.,
Kennedy Kelsey R.,
Powell Matthew R.,
Davis Loretta S.
Publication year - 2021
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14538
Subject(s) - sma* , medicine , spinal muscular atrophy , necrosis , respiratory distress , hypotonia , atrophy , weakness , muscle contracture , pathology , surgery , disease , mathematics , combinatorics
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.