Peeling skin syndrome

Definition:

Peeling skin syndrome (PSS) is a group of rare autosomal recessive disorders characterized by superficial detachment of the epidermal corneal layers. PSS can be divided into two main types, acral PSS (APSS) and generalized PSS. APSS involves the palmar, plantar and dorsal surfaces of hands and feet. Generalized PSS can be further divided into the non-inflammatory (type A) and the inflammatory (type B) forms. Several underlying genetic causes of PSS have been identified.

References:

[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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