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

被引：6

作者：

Weissman, Amanda S. ^{[1
]}

Kennedy, Kelsey R. ^{[2
]}

Powell, Matthew R. ^{[3
]}

Davis, Loretta S. ^{[2
]}

机构：

[1] Augusta Univ, Med Coll Georgia, 1004 Chafee Ave, Augusta, GA 30904 USA

[2] Augusta Univ, Med Coll Georgia, Dept Dermatol, Augusta, GA 30904 USA

[3] Augusta Univ, Med Coll Georgia, Dept Pathol, Augusta, GA 30904 USA

来源：

PEDIATRIC DERMATOLOGY | 2021年 / 38卷 / 03期

关键词：

autonomic dysfunction; motor neuron disease; skin necrosis; SMA type 0; spinal muscular atrophy; SURVIVAL;

D O I：

10.1111/pde.14538

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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.

引用

页码：632 / 636

页数：5

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