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

被引:5
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
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
收藏
页码:632 / 636
页数:5
相关论文
共 26 条
[1]  
[Anonymous], MEDLINEPLUS
[2]   Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive in spinal muscular atrophy [J].
Arai, H ;
Tanabe, Y ;
Hachiya, Y ;
Otsuka, E ;
Kumada, S ;
Furushima, W ;
Kohyama, J ;
Yamashita, S ;
Takanashi, JI ;
Kohno, Y .
JOURNAL OF CHILD NEUROLOGY, 2005, 20 (11) :871-875
[3]   Medical considerations of long-term survival of Werdnig-Hoffmann disease [J].
Bach, John R. .
AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION, 2007, 86 (05) :349-355
[4]  
Davis, 2021, PEDIATR DERMATOL, V00, P1
[5]   Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy [J].
de Queiroz Campos Araujo, Alexandra Prufer ;
Araujo, Mario ;
Swoboda, Kathryn J. .
JOURNAL OF PEDIATRICS, 2009, 155 (02) :292-294
[6]  
de Queiroz Campos Araujo AP, 2018, J Rare Dis Res Treat, V3, P1, DOI [10.29245/2572-9411/2018/1.1136, DOI 10.29245/2572-9411/2018/1.1136]
[7]   Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls [J].
Fang, Ping ;
Li, Liang ;
Zeng, Jian ;
Zhou, Wan-Jun ;
Wu, Wei-Qing ;
Zhong, Ze-Yan ;
Yan, Ti-Zhen ;
Xie, Jian-Sheng ;
Huang, Jing ;
Lin, Li ;
Zhao, Ying ;
Xu, Xiang-Min .
BMC MUSCULOSKELETAL DISORDERS, 2015, 16
[8]   A mouse model for spinal muscular atrophy [J].
Hsieh-Li, HM ;
Chang, JG ;
Jong, YJ ;
Wu, MH ;
Wang, NM ;
Tsai, CH ;
Li, H .
NATURE GENETICS, 2000, 24 (01) :66-70
[9]   Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models [J].
Hua, Yimin ;
Liu, Ying Hsiu ;
Sahashi, Kentaro ;
Rigo, Frank ;
Bennett, C. Frank ;
Krainer, Adrian R. .
GENES & DEVELOPMENT, 2015, 29 (03) :288-297
[10]  
Kissel, 2015, NEUROL CLIN, V33, P4