KEGG   DISEASE: H01217Help
Entry
H01217                      Disease                                

Name
Primary localized cutaneous amyloidosis (PLCA)
Description
Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic forms of amyloidosis. Clinically, skin lesions comprise small, flat-top papules (lichen amyloidosis) or brown-gray macules (macular amyloidosis). PLCA is relatively common in South America and Asia, and some cases have an autosomal dominant family history (familial PLCA, FPLCA). The genetic basis of FPLCA involves mutations in the OSMR and IL31RA genes. Both belong to the family of interleukin (IL)-6 family cytokine receptors.
Category
Skin and connective tissue disease
BRITE hierarchy
Pathway
Cytokine-cytokine receptor interaction
Jak-STAT signaling pathway
Gene
(PLCA1) OSMR [HSA:9180] [KO:K05057]
(PLCA2) IL31RA [HSA:133396]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:20507362 (description, gene)
  Authors
Tanaka A, Lai-Cheong JE, van den Akker PC, Nagy N, Millington G, Diercks GF, van Voorst Vader PC, Clements SE, Almaani N, Techanukul T, Hide M, South AP, McGrath JA
  Title
The molecular skin pathology of familial primary localized cutaneous amyloidosis.
  Journal
Exp Dermatol 19:416-23 (2010)
Reference
PMID:19375894 (description, gene)
  Authors
Arita K, Abe R, Baba K, McGrath JA, Akiyama M, Shimizu H
  Title
A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family.
  Journal
J Dermatol Sci 55:64-5 (2009)

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