Familial Amyloidosis Cutis Dyschromica with GPNMB mutation: A Case Report and Literature Review

Hamie L, Haddad I, Nasser N, Kurban M, Abbas O. Primary localized cutaneous amyloidosis of keratinocyte origin: an update with emphasis on atypical clinical variants. Am J Clin Dermatol 2021; 22: 667–680. DOI: https://doi.org/10.1007/s40257-021-00620-9

Mahon C, Oliver F, Purvis D, Agnew K. Amyloidosis cutis dyschromica in two siblings and review of the epidemiology, clinical features and management in 48 cases. Australas J Dermatol 2016; 57: 307–311. DOI: https://doi.org/10.1111/ajd.12342

Wang H, Zhong Z, Wang X, Zheng L, Wang Y, Wang S, et al. Case report: amyloidosis cutis dyschromica: dermoscopy and reflectance confocal microscopy and gene mutation analysis of a Chinese pedigree. Front Med (Lausanne) 2021; 8: 774266. DOI: https://doi.org/10.3389/fmed.2021.774266

Sakuma TH, Hans-Filho G, Arita K, Odashiro A, Odashiro D, Hans NR, et al. Familial primary localized cutaneous amyloidosis in Brazil. Arch Dermatol 2009; 145: 695–699. DOI: https://doi.org/10.1001/archdermatol.2009.107

al-Ratrout JT, Satti MB. Primary localized cutaneous amyloidosis: a clinicopathologic study from Saudi Arabia. Int J Dermatol 1997; 36: 428–434. DOI: https://doi.org/10.1046/j.1365-4362.1997.00109.x

Qin W, Wang H, Zhong W, Bai J, Qiao J, Lin Z. Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns. J Dermatol Sci 2021; 104: 48–54. DOI: https://doi.org/10.1016/j.jdermsci.2021.08.002

Zhang P, Liu W, Zhu C, Yuan X, Li D, Gu W, et al. Silencing of GPNMB by siRNA inhibits the formation of melanosomes in melanocytes in a MITF-independent fashion. PLoS One 2012; 7: e42955. DOI: https://doi.org/10.1371/journal.pone.0042955

Yang CF, Lin SP, Chiang CP, Wu YH, H’Ng WS, Chang CP, et al. Loss of GPNMB causes autosomal-recessive amyloidosis cutis dyschromica in humans. Am J Hum Genet 2018; 102: 219–232. DOI: https://doi.org/10.1016/j.ajhg.2017.12.012

Atzori L, Ferreli C, Matucci-Cerinic C, Pilloni L, Rongioletti F. Primary localized cutaneous nodular amyloidosis and limited cutaneous systemic sclerosis: additional cases with dermatoscopic and histopathological correlation of amyloid deposition. Dermatopathology (Basel) 2021; 8: 229–235. DOI: https://doi.org/10.3390/dermatopathology8030028

Murthy AB, Palaniappan V, Karthikeyan K, Anbarasan V. Dyschromatosis universalis hereditaria. Int J Dermatol 2023; 62: 1218–1227. DOI: https://doi.org/10.1111/ijd.16817

Black JO. Xeroderma pigmentosum. Head Neck Pathol 2016; 10: 139–144. DOI: https://doi.org/10.1007/s12105-016-0707-8

Daruish M, Al-Sharbatee G, D’Arrigo C, Taibjee S. 34betaE12 is the most reliable marker for keratin-derived cutaneous amyloid: a comparative study. Am J Dermatopathol 2025; 47: 439–441. DOI: https://doi.org/10.1097/DAD.0000000000002942

Arita K, South AP, Hans-Filho G, Sakuma TH, Lai-Cheong J, Clements S, et al. Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet 2008; 82: 73–80. DOI: https://doi.org/10.1016/j.ajhg.2007.09.002

Lin MW, Lee DD, Liu TT, Lin YF, Chen SY, Huang CC, et al. Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. Eur J Hum Genet 2010; 18: 26–32. DOI: https://doi.org/10.1038/ejhg.2009.135

Onoufriadis A, Hsu CK, Eide CR, Nanda A, Orchard GE, Tomita K, et al. Semidominant GPNMB mutations in -amyloidosis cutis dyschromica. J Invest Dermatol 2019; 139: 2550–2554 e2559. DOI: https://doi.org/10.1016/j.jid.2019.05.021