From the Research
Familial primary cutaneous amyloidosis mutations are predominantly linked to specific geographic regions in Asia and South America, particularly in Taiwan, China, Indonesia, Malaysia, Brazil, and Colombia, as evidenced by studies such as 1 and 2. These regions have a high prevalence of the condition, which is characterized by persistent pruritic papules or macules containing amyloid deposits in the papillary dermis. The condition shows a strong genetic predisposition in these populations, with several identified mutations in the OSMR (oncostatin M receptor) gene on chromosome 5 and the IL31RA (interleukin-31 receptor A) gene, as reported in studies such as 2 and 3. Some key points to consider include:
- The OSMRβ-IL31RA signaling pathway is crucial for skin homeostasis and keratinocyte differentiation, and alterations in this pathway have been implicated in the pathogenesis of familial primary cutaneous amyloidosis, as discussed in 4.
- The geographic clustering of the condition suggests founder effects in these populations, where specific mutations were introduced by a small number of ancestors and became more common over generations due to relative isolation and consanguineous marriages in some communities.
- The prevalence of these mutations varies by region, with some areas of Taiwan showing particularly high rates of familial cases, as noted in 1. Overall, the available evidence suggests that familial primary cutaneous amyloidosis is a condition with a strong genetic component, and that certain geographic regions are at higher risk due to founder effects and genetic predisposition, as supported by studies such as 2, 3, and 1.