Chinese Journal of Dermatology ›› 2023, Vol. 56 ›› Issue (8): 794-799.doi: 10.35541/cjd.20201253
• Reviews • Previous Articles Next Articles
Jia Tao, Song Xiangjin, Geng Songmei
Received:
2020-12-30
Revised:
2021-02-13
Online:
2023-08-15
Published:
2023-08-07
Contact:
Geng Songmei
E-mail:gsm312@yahoo.com
Supported by:
Jia Tao, Song Xiangjin, Geng Songmei. Autoinflammatory dermatosis[J]. Chinese Journal of Dermatology, 2023, 56(8): 794-799.doi:10.35541/cjd.20201253
[1] | Moreira A, Torres B, Peruzzo J, et al. Skin symptoms as diagnostic clue for autoinflammatory diseases[J]. An Bras Dermatol, 2017,92(1):72⁃80. doi: 10.1590/abd1806⁃4841.2017 5208. |
[2] | Marzano AV, Damiani G, Genovese G, et al. A dermatologic perspective on autoinflammatory diseases[J]. Clin Exp Rheumatol, 2018,36 Suppl 110(1):32⁃38. |
[3] | McGonagle D, Aziz A, Dickie LJ, et al. An integrated classification of pediatric inflammatory diseases, based on the concepts of autoinflammation and the immunological disease continuum[J]. Pediatr Res, 2009,65(5 Pt 2):38R⁃45R. doi: 10.1203/PDR.0b013e31819dbd0a. |
[4] | Ebstein F, Poli Harlowe MC, Studencka⁃Turski M, et al. Contribution of the unfolded protein response (UPR) to the pathogenesis of proteasome⁃associated autoinflammatory syndromes (PRAAS)[J]. Front Immunol, 2019,10:2756. doi: 10.3389/fimmu.2019.02756. |
[5] | Nomura T. Hidradenitis Suppurativa as a potential subtype of autoinflammatory keratinization disease[J]. Front Immunol, 2020,11:847. doi: 10.3389/fimmu.2020.00847. |
[6] | Hofmann SC, Juratli HA, Eming R. Bullous autoimmune dermatoses[J]. J Dtsch Dermatol Ges, 2018,16(11):1339⁃1358. doi: 10.1111/ddg.13688. |
[7] | Nishikomori R, Izawa K, Kambe N, et al. Low⁃frequency mosaicism in cryopyrin⁃associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases[J]. Int Immunol, 2019,31(10):649⁃655. doi: 10.1093/intimm/dxz047. |
[8] | Takeichi T, Akiyama M. Familial or sporadic porokeratosis as an autoinflammatory keratinization disease[J]. J Dermatol, 2019,46(4):e125⁃125e126. doi: 10.1111/1346⁃8138.14666. |
[9] | Akiyama M, De Vita V, Sugiura K. Editorial: autoinflammatory keratinization disease (AiKD)[J]. Front Immunol, 2020,11:1753. doi: 10.3389/fimmu.2020.01753. |
[10] | La Rosée P, Horne A, Hines M, et al. Recommendations for the management of hemophagocytic lymphohistiocytosis in adults[J]. Blood, 2019,133(23):2465⁃2477. doi: 10.1182/blood.2018 894618. |
[11] | Shwin KW, Lee CR, Goldbach⁃Mansky R. Dermatologic manifestations of monogenic autoinflammatory diseases[J]. Dermatol Clin, 2017,35(1):21⁃38. doi: 10.1016/j.det.2016.07. 005. |
[12] | Kanazawa N. Designation of autoinflammatory skin manifesta⁃tions with specific genetic backgrounds[J]. Front Immunol, 2020,11:475. doi: 10.3389/fimmu.2020.00475. |
[13] | Figueras⁃Nart I, Mascaró JM Jr, Solanich X, et al. Dermatologic and dermatopathologic features of monogenic autoinflammatory diseases[J]. Front Immunol, 2019,10:2448. doi: 10.3389/fimmu. 2019.02448. |
[14] | Rigante D, Vitale A, Lucherini OM, et al. The hereditary autoinflammatory disorders uncovered[J]. Autoimmun Rev, 2014,13(9):892⁃900. doi: 10.1016/j.autrev.2014.08.001. |
[15] | Manthiram K, Zhou Q, Aksentijevich I, et al. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation[J]. Nat Immunol, 2017,18(8):832⁃842. doi: 10.1038/ni.3777. |
[16] | Aksentijevich I, Zhou Q. NF⁃κB Pathway in autoinflammatory diseases: dysregulation of protein modifications by ubiquitin defines a new category of autoinflammatory diseases[J]. Front Immunol, 2017,8:399. doi: 10.3389/fimmu.2017.00399. |
[17] | Babaoglu H, Varan O, Kucuk H, et al. On demand use of anakinra for attacks of familial Mediterranean fever (FMF)[J]. Clin Rheumatol, 2019,38(2):577⁃581. doi: 10.1007/s10067⁃018⁃4230⁃z. |
[18] | De Benedetti F, Gattorno M, Anton J, et al. Canakinumab for the treatment of autoinflammatory recurrent fever syndromes[J]. N Engl J Med, 2018,378(20):1908⁃1919. doi: 10.1056/NEJMoa 1706314. |
[19] | Ter Haar N, Lachmann H, Özen S, et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review[J]. Ann Rheum Dis, 2013,72(5):678⁃685. doi: 10.1136/annrheumdis⁃2011⁃201268. |
[20] | Bunney TD, Esposito D, Mas⁃Droux C, et al. Structural and functional integration of the PLCγ interaction domains critical for regulatory mechanisms and signaling deregulation[J]. Structure, 2012,20(12):2062⁃2075. doi: 10.1016/j.str.2012.09. 005. |
[21] | Broekaert SM, Böer⁃Auer A, Kerl K, et al. Neutrophilic epitheliotropism is a histopathological clue to neutrophilic urticarial dermatosis[J]. Am J Dermatopathol, 2016,38(1):39⁃49. doi: 10.1097/DAD.0000000000000390. |
[22] | Goldbach⁃Mansky R. Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)⁃1 and an emerging role for cytokines beyond IL⁃1[J]. Clin Exp Immunol, 2012,167(3):391⁃404. doi: 10.1111/j.1365⁃2249.2011.04533.x. |
[23] | Ombrello MJ, Remmers EF, Sun G, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions[J]. N Engl J Med, 2012,366(4):330⁃338. doi: 10.1056/NEJMoa 1102140. |
[24] | Aderibigbe OM, Priel DL, Lee CC, et al. Distinct cutaneous manifestations and cold⁃induced leukocyte activation associated with PLCG2 mutations[J]. JAMA Dermatol, 2015,151(6):627⁃634. doi: 10.1001/jamadermatol.2014.5641. |
[25] | Smith EJ, Allantaz F, Bennett L, et al. Clinical, molecular, and genetic characteristics of PAPA syndrome: a review[J]. Curr Genomics, 2010,11(7):519⁃527. doi: 10.2174/13892021079317 5921. |
[26] | Moghaddas F, Llamas R, De Nardo D, et al. A novel pyrin⁃associated autoinflammation with neutrophilic dermatosis mutation further defines 14⁃3⁃3 binding of pyrin and distinction to Familial Mediterranean Fever[J]. Ann Rheum Dis, 2017,76(12):2085⁃2094. doi: 10.1136/annrheumdis⁃2017⁃211473. |
[27] | Marzano AV, Damiani G, Ceccherini I, et al. Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis)[J]. Br J Dermatol, 2017,176(6):1588⁃1598. doi: 10.1111/bjd.15226. |
[28] | Marzano AV, Trevisan V, Gattorno M, et al. Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene[J]. JAMA Dermatol, 2013,149(6):762⁃764. doi: 10.1001/jamadermatol.2013.2907. |
[29] | Saraceno R, Babino G, Chiricozzi A, et al. PsAPASH: a new syndrome associated with hidradenitis suppurativa with response to tumor necrosis factor inhibition[J]. J Am Acad Dermatol, 2015,72(1):e42⁃e44. doi: 10.1016/j.jaad.2014.10.002. |
[30] | Bruzzese V. Pyoderma gangrenosum, acne conglobata, suppurative hidradenitis, and axial spondyloarthritis: efficacy of anti⁃tumor necrosis factor α therapy[J]. J Clin Rheumatol, 2012,18(8):413⁃415. doi: 10.1097/RHU.0b013e318278b84c. |
[31] | Cugno M, Borghi A, Marzano AV. PAPA, PASH and PAPASH syndromes: pathophysiology, presentation and treatment[J]. Am J Clin Dermatol, 2017,18(4):555⁃562. doi: 10.1007/s40257⁃017⁃0265⁃1. |
[32] | Masters SL, Lagou V, Jéru I, et al. Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation[J]. Sci Transl Med, 2016,8(332):332ra45. doi: 10.1126/scitranslmed.aaf1471. |
[33] | Brau⁃Javier CN, Gonzales⁃Chavez J, Toro JR. Chronic cutaneous pustulosis due to a 175⁃kb deletion on chromosome 2q13: excellent response to anakinra[J]. Arch Dermatol, 2012,148(3):301⁃304. doi: 10.1001/archdermatol.2011.2857. |
[34] | Marrakchi S, Guigue P, Renshaw BR, et al. Interleukin⁃36⁃receptor antagonist deficiency and generalized pustular psoriasis[J]. N Engl J Med, 2011,365(7):620⁃628. doi: 10.1056/NEJMoa 1013068. |
[35] | de Jesus AA, Canna SW, Liu Y, et al. Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling[J]. Annu Rev Immunol, 2015,33:823⁃874. doi: 10.1146/annurev⁃immunol⁃032414⁃112227. |
[36] | Mahil SK, Twelves S, Farkas K, et al. AP1S3 mutations cause skin autoinflammation by disrupting keratinocyte autophagy and up⁃regulating IL⁃36 production[J]. J Invest Dermatol, 2016,136(11):2251⁃2259. doi: 10.1016/j.jid.2016.06.618. |
[37] | Akiyama M. Early⁃onset generalized pustular psoriasis is representative of autoinflammatory keratinization diseases[J]. J Allergy Clin Immunol, 2019,143(2):809⁃810. doi: 10.1016/j.jaci.2018.11.009. |
[38] | Akiyama M, Takeichi T, McGrath JA, et al. Autoinflammatory keratinization diseases[J]. J Allergy Clin Immunol, 2017,140(6):1545⁃1547. doi: 10.1016/j.jaci.2017.05.019. |
[39] | Pathak S, McDermott MF, Savic S. Autoinflammatory diseases: update on classification diagnosis and management[J]. J Clin Pathol, 2017,70(1):1⁃8. doi: 10.1136/jclinpath⁃2016⁃203810. |
[40] | Brehm A, Liu Y, Sheikh A, et al. Additive loss⁃of⁃function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production[J]. J Clin Invest, 2015,125(11):4196⁃4211. doi: 10.1172/JCI81260. |
[41] | Torrelo A, Patel S, Colmenero I, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome[J]. J Am Acad Dermatol, 2010,62(3):489⁃495. doi: 10.1016/j.jaad.2009.04.046. |
[42] | Sanchez G, Reinhardt A, Ramsey S, et al. JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferono⁃pathies[J]. J Clin Invest, 2018,128(7):3041⁃3052. doi: 10.1172/JCI98814. |
[43] | Rose CD. Blau syndrome: a systemic granulomatous disease of cutaneous onset and phenotypic complexity[J]. Pediatr Dermatol, 2017,34(2):216⁃218. doi: 10.1111/pde.13021. |
[44] | Dávila⁃Seijo P, Hernández⁃Martín A, Torrelo A. Autoinflam⁃matory syndromes for the dermatologist[J]. Clin Dermatol, 2014,32(4):488⁃501. doi: 10.1016/j.clindermatol.2014. 02.004. |
[45] | Fiehn C. Familial chilblain lupus ⁃ what can we learn from type I interferonopathies?[J]. Curr Rheumatol Rep, 2017,19(10):61. doi: 10.1007/s11926⁃017⁃0689⁃x. |
[46] | Briggs TA, Rice GI, Adib N, et al. Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey[J]. J Clin Immunol, 2016,36(3):220⁃234. doi: 10.1007/s10875⁃016⁃0252⁃y. |
[47] | Crow YJ, Manel N. Aicardi⁃Goutières syndrome and the type I interferonopathies[J]. Nat Rev Immunol, 2015,15(7):429⁃440. doi: 10.1038/nri3850. |
[48] | Navon Elkan P, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy[J]. N Engl J Med, 2014,370(10):921⁃931. doi: 10.1056/NEJMoa1307362. |
[49] | Gonzalez Santiago TM, Zavialov A, Saarela J, et al. Dermatologic features of ada2 deficiency in cutaneous polyarteritis nodosa[J]. JAMA Dermatol, 2015,151(11):1230⁃1234. doi: 10.1001/jamadermatol.2015.1635. |
[50] | Hashem H, Kumar AR, Müller I, et al. Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2[J]. Blood, 2017,130(24):2682⁃2688. doi: 10.1182/blood⁃2017⁃07⁃798660. |
[51] | Wenzel J, van Holt N, Maier J, et al. JAK1/2 inhibitor ruxolitinib controls a case of chilblain lupus erythematosus[J]. J Invest Dermatol, 2016,136(6):1281⁃1283. doi: 10.1016/j.jid.2016.02. 015. |
[52] | Neves JF, Doffinger R, Barcena⁃Morales G, et al. Novel PLCG2 mutation in a patient with APLAID and cutis laxa[J]. Front Immunol, 2018,9:2863. doi: 10.3389/fimmu.2018.02863. |
[53] | Kanazawa N. Hereditary disorders presenting with urticaria[J]. Immunol Allergy Clin North Am, 2014,34(1):169⁃179. doi: 10. 1016/j.iac.2013.08.001. |
[1] | 春里 陈 Siyu Yan Si-Yuan TANG Wei LIU Jinrong Zeng jianyun Lu. Efficacy of acidified aliphatic ester in the treatment of atopic dermatitis in mouse models and preliminary exploration of its mechanisms of action [J]. Chinese Journal of Dermatology, 2023, 56(9): 822-831. |
[2] | Wang Li, Ren Zengguo, Lou Guiyu, Zhang Yuwei, Yang Ke, Lei Xingxing, Zhang Bing, Liao Shixiu, Hao Bingtao. Genetic diagnosis in two families with dystrophic epidermolysis bullosa [J]. Chinese Journal of Dermatology, 2023, 56(8): 770-773. |
[3] | Huang Xiaoyan, Xiao Yi, Jing Danrong, Chen Mingliang, Shen Minxue, . A survey on the prevalence and associated factors of arsenic poisoning-related skin lesions in an arsenic tailing area in Hunan Province, China [J]. Chinese Journal of Dermatology, 2023, 56(7): 636-641. |
[4] | Wei Jin, Yan Huiwen, Zhao Tianwei, Ran Liwei, Lun Wenhui, Zhang Jianzhong. Eczematoid clear cell acanthoma of the nipple/areola: the first case reported in China and literature analysis [J]. Chinese Journal of Dermatology, 2023, 56(6): 545-548. |
[5] | Ren Faliang, Wang Hua, Xiao Yizhu. Clinical characteristics of 57 cases of clear cell papulosis [J]. Chinese Journal of Dermatology, 2023, 56(4): 309-312. |
[6] | Wang Yuanli, Liu Ling, Sun Zhongbin, Li Kai. Analysis of 141 cases clinically misdiagnosed as melanoma [J]. Chinese Journal of Dermatology, 2023, 56(3): 244-246. |
[7] | Deng Linjun, Tu Ping. Histopathological features of 110 cases of pityriasis rosea [J]. Chinese Journal of Dermatology, 2023, 0(3): 20220130-e20220130. |
[8] | Wang Yifei, Song Hao, Miao Qiuju, Xu Xiulian, Sun Jianfang. Clinical classification and histopathological features of connective tissue nevi [J]. Chinese Journal of Dermatology, 2023, 56(1): 82-85. |
[9] | Li Wei, Li Zheng . Atopic dermatitis with typical and atypical manifestations [J]. Chinese Journal of Dermatology, 2023, 56(1): 1-4. |
[10] | Gu Ankang, Zhang Yu, Ma Faku, Kong Xiangjun, Zhang Litao. Clinicopathological analysis of 56 cases of swimming pool granuloma [J]. Chinese Journal of Dermatology, 2022, 55(9): 795-798. |
[11] | Yang Zhou, Xu Zhe, Wang Zhaoyang, Chen Yunliu, Ma Lin. TP63 gene mutation analysis in a case of ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [J]. Chinese Journal of Dermatology, 2022, 55(8): 696-699. |
[12] | Zhang Shimin, Hu Yunyun, Zhao Xiaoqing, Du Lianjun, Cao Hua, Zheng Jie. Application of imaging techniques in diagnosis and severity assessment of dermatomyositis [J]. Chinese Journal of Dermatology, 2022, 55(7): 637-640. |
[13] | Wang Yuan, Li Zhiliang, Li Suo, Jing Ke, Sun Chao, Liang Guirong, Zhang Hanmei, Feng Suying. Clinical and immunoserological features of 7 cases of anti-p200 pemphigoid [J]. Chinese Journal of Dermatology, 2022, 55(7): 557-561. |
[14] | Shen Chen, Chen Junjun, Yang Ji, Hu Dongyan, Xin Chongmei, Li Ming. Clinical features and classification of 180 patients with morphea [J]. Chinese Journal of Dermatology, 2022, 55(4): 308-315. |
[15] | Wang Zhaoyang, Chen Anwei, Xiang Xin, Luo Xiaoyan, Xu Zigang, Wang Hua, Ma Lin. An investigation into the current situation of pediatric psoriasis based on the information systems from two children′s hospitals [J]. Chinese Journal of Dermatology, 2022, 55(3): 246-250. |
|