H01217 | |
H number | H01217 |
Name | Primary localized cutaneous amyloidosis |
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 disease |
Network | - |
Gene | (PLCA1) OSMR [HSA:9180] [KO:K05057] (PLCA2) IL31RA [HSA:133396] [KO:K22630] (PLCA3) GPNMB [HSA:10457] [KO:K20732] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5D00.0 MeSH: C562642 OMIM: 105250 613955 617920 |
Reference | PMID:20507362 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) DOI:10.1111/j.1600-0625.2010.01083.x PMID:19375894 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) DOI:10.1016/j.jdermsci.2009.03.003 PMID:29336782 AUTHORS Yang CF, Lin SP, Chiang CP, Wu YH, H'ng WS, Chang CP, Chen YT, Wu JY TITLE Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans. JOURNAL Am J Hum Genet 102:219-232 (2018) DOI:10.1016/j.ajhg.2017.12.012 |