KEGG   DISEASE: Ectodermal dysplasia/skin fragility syndrome
Entry
H00644                      Disease                                
Name
Ectodermal dysplasia/skin fragility syndrome
Description
Ectodermal dysplasia/skin fragility syndrome (EDSFS) is a very rare genodermatosis that develops skin fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms and soles is always seen in the patients. This condition is caused by mutations in PKP1, a desmosomal plaque-associated protein.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic or developmental disorders affecting the skin
   Genetically-determined epidermolysis bullosa
    EC30  Epidermolysis bullosa simplex
     H00644  Ectodermal dysplasia/skin fragility syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular processes
  nt06549  Cadherin signaling
   H00644  Ectodermal dysplasia/skin fragility syndrome
  nt06545  Cornified envelope formation
   H00644  Ectodermal dysplasia/skin fragility syndrome
Pathway
hsa04382 Cornified envelope formation   
hsa04519 Cadherin signaling   
Network
nt06545 Cornified envelope formation
nt06549 Cadherin signaling
Gene
PKP1 [HSA:5317] [KO:K10387]
Other DBs
ICD-11: EC30
MeSH: C536183
OMIM: 604536
Reference
PMID:19504607
  Authors
Priolo M
  Title
Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
  Journal
Am J Med Genet A 149A:2003-13 (2009)
DOI:10.1002/ajmg.a.32804
Reference
PMID:9326952
  Authors
McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA
  Title
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
  Journal
Nat Genet 17:240-4 (1997)
DOI:10.1038/ng1097-240
Reference
PMID:16781314
  Authors
Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA
  Title
Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
  Journal
J Am Acad Dermatol 55:157-61 (2006)
DOI:10.1016/j.jaad.2005.10.002
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