KEGG   DISEASE: H00737Help
Entry
H00737                      Disease                                

Name
Acral peeling skin syndrome
Description
Acral peeling skin syndrome is a rare autosomal recessive disorder characterized by spontaneous, lifelong peeling of the skin at a subcorneal or intracorneal level. Missense mutations in the gene of transglutaminase-5 (TGM5) underlie the disease.
Category
Skin and connective tissue disease
BRITE hierarchy
Gene
TGM5 [HSA:9333] [KO:K05622]
Other DBs
MeSH: 
OMIM: 
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)
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)

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