Peeling skin syndrome
Definition:
References:
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[1]. Aleksandar L Krunic, et al. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. Pediatr Dermatol. 2013 Sep-Oct;30(5):e87-8. [Content Brief]
[2]. K Hashimoto, et al. Acral peeling skin syndrome. J Am Acad Dermatol. 2000 Dec;43(6):1112-9. [Content Brief]
[3]. Manuela Pigors, et al. Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. Am J Hum Genet. 2016 Aug 4;99(2):430-6. [Content Brief]
[4]. Maria C Bolling, et al. Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations. J Invest Dermatol. 2018 Aug;138(8):1881-1884. [Content Brief]
[5]. Rita M Cabral, et al. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics. 2012 Apr;99(4):202-8. [Content Brief]
[6]. Sasha Pavlovic, et al. Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. Pediatr Dermatol. 2012 May-Jun;29(3):258-63. [Content Brief]
[7]. Shirli Israeli, et al. Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol. 2011 Mar;131(3):779-81. [Content Brief]
[8]. Zhimiao Lin, et al. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet. 2015 Mar 5;96(3):440-7. [Content Brief]
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