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
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Other metabolic disorders
5D00 Amyloidosis
H01217 Primary localized cutaneous amyloidosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06518 JAK-STAT signaling
H01217 Primary localized cutaneous amyloidosis
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.
Lin MW, Lee DD, Liu TT, Lin YF, Chen SY, Huang CC, Weng HY, Liu YF, Tanaka A, Arita K, Lai-Cheong J, Palisson F, Chang YT, Wong CK, Matsuura I, McGrath JA, Tsai SF
Title
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.
