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Review
. 2021 May;38(3):632-636.
doi: 10.1111/pde.14538. Epub 2021 Feb 23.

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

Amanda S Weissman  1 , Kelsey R Kennedy  2 , Matthew R Powell  3 , Loretta S Davis  2
Affiliations
Review

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

Amanda S Weissman et al. Pediatr Dermatol. 2021 May.

Abstract

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.

Keywords: SMA type 0; autonomic dysfunction; motor neuron disease; skin necrosis; spinal muscular atrophy.

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References

REFERENCES

    1. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and Characterization of a Spinal Muscular Atrophy-Determining Gene. Cell. 1995;80(1):155-165. https://doi.org/10.1016/0092-8674(95)90460-3
    1. SMN2 gene: MedlinePlus Genetics. MedlinePlus. https://medlineplus.gov/genetics/gene/smn2/. Published August 18, 2020. Accessed July 2, 2020
    1. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2016;22(8):1027-1049.
    1. Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011;68(8):979-984.
    1. Fang P, Li L, Zeng J, et al. Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls. OriginalPaper. BMC Musculoskelet Disord. 2015;16(1):1-8.

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