KEGG   DISEASE: Peeling skin syndromeHelp
Entry
H00737                      Disease                                

Name
Peeling skin syndrome
Description
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 and is caused by mutations in the transglutaminase 5 gene (TGM5). Generalized PSS can be further divided into the non-inflammatory (type A) and the inflammatory (type B) forms. Recently, it was found that mutations in the corneodesmosin gene (CDSN) underlie PSS type B.
Category
Skin and connective tissue disease
Brite
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H00737  Acral peeling skin syndrome
BRITE hierarchy
Gene
CDSN [HSA:1041]
TGM5 [HSA:9333] [KO:K05622]
CHST8 [HSA:64377] [KO:K09672]
CSTA [HSA:1475] [KO:K13907]
SERPINB8 [HSA:5271] [KO:K13965]
Other DBs
Reference
PMID:16935789 (description, gene)
  Authors
Oji V, Traupe H
  Title
Ichthyoses: differential diagnosis and molecular genetics.
  Journal
Eur J Dermatol 16:349-59 (2006)
Reference
PMID:22066523 (description, gene)
  Authors
Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA
  Title
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.
  Journal
Pediatr Dermatol 29:258-63 (2012)
DOI:10.1111/j.1525-1470.2011.01563.x
Reference
PMID:11100033 (description)
  Authors
Hashimoto K, Hamzavi I, Tanaka K, Shwayder T
  Title
Acral peeling skin syndrome.
  Journal
J Am Acad Dermatol 43:1112-9 (2000)
DOI:10.1067/mjd.2000.103645
Reference
PMID:21191406 (gene)
  Authors
Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E
  Title
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.
  Journal
J Invest Dermatol 131:779-81 (2011)
DOI:10.1038/jid.2010.363
Reference
PMID:22289416 (gene)
  Authors
Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM
  Title
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.
  Journal
Genomics 99:202-8 (2012)
DOI:10.1016/j.ygeno.2012.01.005
Reference
PMID:23534700 (gene)
  Authors
Krunic AL, Stone KL, Simpson MA, McGrath JA
  Title
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
  Journal
Pediatr Dermatol 30:e87-8 (2013)
DOI:10.1111/pde.12092
Reference
PMID:27476651 (gene)
  Authors
Pigors M, Sarig O, Heinz L, Plagnol V, Fischer J, Mohamad J, Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP, Blaydon DC
  Title
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.
  Journal
Am J Hum Genet 99:430-6 (2016)
DOI:10.1016/j.ajhg.2016.06.004

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