KEGG   DISEASE: Primary localized cutaneous amyloidosis (PLCA)Help
H01217                      Disease                                

Primary localized cutaneous amyloidosis (PLCA)
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.
Skin and connective tissue disease
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H01217  Primary localized cutaneous amyloidosis (PLCA)
BRITE hierarchy
hsa04060  Cytokine-cytokine receptor interaction
hsa04630  Jak-STAT signaling pathway
(PLCA1) OSMR [HSA:9180] [KO:K05057]
(PLCA2) IL31RA [HSA:133396] [KO:K22630]
Other DBs
MeSH: C562642
OMIM: 105250 613955
PMID:20507362 (description, gene)
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
The molecular skin pathology of familial primary localized cutaneous amyloidosis.
Exp Dermatol 19:416-23 (2010)
PMID:19375894 (description, gene)
Arita K, Abe R, Baba K, McGrath JA, Akiyama M, Shimizu H
A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family.
J Dermatol Sci 55:64-5 (2009)

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