色素失禁症相关性眼病诊疗研究进展

doi:10.6040/j.issn.1673-3770.0.2023.101

摘要/Abstract

摘要： 色素失禁症是一种罕见的主要表现为特征性皮肤损害的X染色体显性连锁遗传病,多见于女性,常并发眼部及中枢神经系统异常。色素失禁症相关性眼病主要表现为视网膜血管灌注异常和缺血性增殖,也伴有白内障、斜视等非视网膜表现。色素失禁症相关性眼病早期检查、及时治疗及定期随访对于预防进展性、永久性视力丧失至关重要。本文就色素失禁症相关性眼病的发病机制、临床表现及分期、诊断标准、辅助检查及鉴别诊断、治疗及长期随访管理进行归纳总结。

关键词: 色素失禁症, NEMO基因, 视网膜血管异常, 抗VEGF治疗

Abstract: Incontinentia pigmenti is a rare X-linked genetic disease more commonly observed in women, presenting with characteristic skin lesions. Complications of this disease include ocular and central nervous system abnormalities. Incontinentia pigmenti-associated ophthalmopathy is characterized by abnormal retinal vascular perfusion and ischemic proliferation, as well as non-retinal manifestations such as cataracts and strabismus. Early examination, timely treatment, and regular follow-ups are essential in preventing progressive and permanent vision loss. This article summarizes the pathogenesis, clinical manifestations and stages, and diagnostic criteria of these diseases, as well as methods of auxiliary examination, differential diagnosis, treatment, and long-term follow-up management.

Key words: Incontinentia pigmenti, NEMO gene, Retinal vascular abnormalities, Anti-VEGF therapy

中图分类号:

R779.7

艾朝晖, 张杰. 色素失禁症相关性眼病诊疗研究进展[J]. 山东大学耳鼻喉眼学报, 2024, 38(4): 166-174.

AI Zhaohui, ZHANG Jie. Research progress in the diagnosis and treatment of incontinentia pigmenti-related eye diseases[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2024, 38(4): 166-174.

参考文献

[1] Nirmalasari DA, Tabri F, Waspodo N, et al. Incontinentia pigmenti/Bloch-Sulzberger syndrome: a case report[J]. Acta Dermatovenerol Alp Pannonica Adriat, 2022, 31(1): 39-41
[2] Wang R, Lara-Corrales I, Kannu P, et al. Unraveling incontinentia pigmenti: a comparison of phenotype and genotype variants[J]. J Am Acad Dermatol, 2019, 81(5): 1142-1149. doi:10.1016/j.jaad.2019.01.093
[3] Haque MN, Ohtsubo M, Nishina S, et al. Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism[J]. J Hum Genet, 2021, 66(2): 205-214. doi:10.1038/s10038-020-00836-3
[4] Dubois P, Chapron T, Affortit-Demoge A, et al. Incontinentia Pigmenti: Homozygous twins with asymmetric ocular involvement[J]. J Français D'ophtalmologie, 2020, 43(8): e289-e292. doi:10.1016/j.jfo.2019.12.016
[5] Baldini L, Di Sabatino F, Bodrero E, et al. NeMO mutations: a rare cause of monogenic Behçet-like disease[J]. Rheumatology(Oxford), 2021, 60(3): e92-e94. doi:10.1093/rheumatology/keaa505
[6] Wolf DS, Golden WC, Hoover-Fong J, et al. High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report[J]. J Child Neurol, 2015, 30(1): 100-106. doi:10.1177/0883073813517509
[7] Vázquez Gómez F, Díaz Ruiz L, Bergón Sendín E, et al. Terapia láser en afectación ocular tras el diagnóstico de incontinencia pigmenti en una niña [Laser therapy in ocular involvement after diagnosis of incontinentia pigmenti in a child] [J]. Arch Argent Pediatr, 2019, 117(3):252-256. doi:10.5546/aap.2019.e252
[8] Kim HY, Song HB, Kim KH, et al. Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene[J]. Exp Dermatol, 2021, 30(5): 676-683. doi:10.1111/exd.14313
[9] Hübner S, Schwieger-Briel A, Technau-Hafsi K, et al. Phenotypic and genetic spectrum of incontinentia pigmenti-a large case series[J]. J Dtsch Dermatol Ges, 2022, 20(1): 35-43. doi:10.1111/ddg.14638
[10] Tandon S, Prasad M, Vora T, et al. A rare association of retinoblastoma with incontinentia pigmenti[J]. J Pediatr Hematol, 2020, 42(5): 372-374. doi:10.1097/mph.0000000000001797
[11] Matsuzaki Y, Rokunohe A, Minakawa S, et al. Incontinentia pigmenti in a male(XY)infant with long-term follow up over 8 years[J]. J Dermatol, 2018, 45(1): 100-103. doi:10.1111/1346-8138.14002
[12] Pescatore A, Spinosa E, Casale C, et al. Human genetic diseases linked to the absence of NEMO: an obligatory somatic mosaic disorder in male[J]. Int J Mol Sci, 2022, 23(3): 1179. doi:10.3390/ijms23031179
[13] Minic S, Obradovic M, Kovacevic I, et al. Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis[J]. Srp Arh Celok Lek, 2010, 138(7/8): 408-413. doi:10.2298/sarh1008408m
[14] Moro R, Fabiano A, Calzavara-Pinton P, et al. Incontinentia pigmenti associated with aplasia cutis congenita in a newborn male with klinefelter syndrome: is the severity of neurological involvement linked to skin manifestations?[J].Dermatol Ther, 2020, 10(1): 213-220. doi:10.1007/s13555-019-00336-z
[15] Minic S, Dobrosavljevic D, Lalosevic J, et al. Dermatoscopy in the diagnostics of incontinentia pigmenti skin lesions[J]. Dermatol Pract Concept, 2022: e2022130. doi:10.5826/dpc.1203a130
[16] Nakao S, Nishina S, Tanaka S, et al. Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti[J]. Jpn J Ophthalmol, 2020, 64(6): 613-620. doi:10.1007/s10384-020-00768-7
[17] Siddharth M, Zia C. Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms[J]. Oman J Ophthalmol, 2022, 15(3): 363-365. doi: 10.4103/OJO.OJO_194_21
[18] Cai YR, Liang Y, Zhong X. Late contralateral recurrence of retinal detachment in incontinentia pigmenti: a case report[J]. World J Clin Cases, 2022, 10(13): 4171-4176. doi:10.12998/wjcc.v10.i13.4171
[19] Chen PY, Kang EYC, Chen KJ, et al. Foveal hypoplasia and characteristics of optical components in patients with familial exudative vitreoretinopathy and retinopathy of prematurity[J]. Sci Rep, 2022, 12: 7694. doi:10.1038/s41598-022-11455-7
[20] Basilius J, Young MP, Michaelis TC, et al. Structural abnormalities of the inner macula in incontinentia pigmenti[J]. JAMA Ophthalmol, 2015, 133(9): 1067-1072. doi:10.1001/jamaophthalmol.2015.1700
[21] Carden SM, Chakrabarti R, Jao K, et al. Cystoid macular oedema in a pre-term infant associated with loss and recovery of vision[J]. Clin Exp Optom, 2021, 104(2): 247-249. doi:10.1111/cxo.13116
[22] Islam YFK, Khurshid SG. Incontinentia pigmenti and the eye[J]. Curr Opin Ophthalmol, 2022, 33(6): 525-531. doi:10.1097/ICU.0000000000000863
[23] Holmström G, Thorén K. Ocular manifestations of incontinentia pigmenti[J]. Acta Ophthalmol Scand, 2000, 78(3): 348-353. doi:10.1034/j.1600-0420.2000.078003348.x
[24] Peng J, Zhang Q, Long XC, et al. Incontinentia pigmenti-associated ocular anomalies of paediatric incontinentia pigmenti patients in China[J]. Acta Ophthalmol, 2019, 97(3): 265-272. doi:10.1111/aos.13781
[25] Dwiyana RF, Banjarnahor ID, Diana IA, et al. Retinal neovascularization in two patients with incontinentia pigmenti[J]. Clin Cosmet Investig Dermatol, 2022, 15: 803-808. doi:10.2147/ccid.s363179
[26] Sharawat IK, Panda PK. Epileptic spasms in an infant with incontinentia pigmenti: report of a rare case with brief review of the literature[J]. J Neurosci Rural Pract, 2020, 11: 325-328. doi:10.1055/s-0040-1709246
[27] Mini c S, Cerovac N, Novakovi c I, et al. The impact of the IKBKG gene on the appearance of the corpus callosum abnormalities in incontinentia pigmenti[J]. Diagnostics, 2023, 13(7): 1300. doi:10.3390/diagnostics13071300
[28] Scheuerle AE. Incontinentia pigmenti in adults[J]. Am J Med Genet, 2019: ajmg.a.61205. doi:10.1002/ajmg.a.61205
[29] Yadlapati S, Tripathy K. Incontinentia pigmenti(bloch-sulzberger syndrome)[M]. Treasure Island(FL): StatPearls Publishing, 2024.
[30] Danford ID, Scruggs BA, Capone A, et al. The prevalence of retinal disease and associated CNS disease in young patients with incontinentia pigmenti[J]. Ophthalmol Retina, 2022, 6(12): 1113-1121. doi:10.1016/j.oret.2022.05.032
[31] Danescu S, Has C, Baican C, et al. A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy[J]. Australas J Dermatol, 2018, 59(4): e262-e265. doi:10.1111/ajd.12805
[32] Onnis G, Diociaiuti A, Zangari P, et al. Cardiopulmonary anomalies in incontinentia pigmenti patients[J]. Int J Dermatol, 2018, 57(1): 40-45. doi:10.1111/ijd.13835
[33] Landy SJ, Donnai D. Incontinentia pigmenti(Bloch-sulzberger syndrome)[J]. J Med Genet, 1993, 30(1): 53-59. doi:10.1136/jmg.30.1.53
[34] 丁颖, 石晨龙, 陶丛敏, 等. 欧洲色素失禁症患者的诊断和实践管理共识解读[J]. 中国循证医学杂志, 2021, 21(10): 1117-1121. doi: 10.7507/1672-2531.202105183 DING Yin, SHI Chenlong, TAO Congmin, et al. Interpretation of European consensus for the diagnosis and practical management of patients with incontinentia pigmenti[J]. Chinese Journal of Evidence-Based Medicine, 2021, 21(10): 1117-1121. doi: 10.7507/1672-2531.202105183
[35] Mini c S, Trpinac D, Obradovi c M. Incontinentia pigmenti diagnostic criteria update[J]. Clin Genet, 2014, 85(6): 536-542. doi:10.1111/cge.12223
[36] Chen CJ, Han IC, Tian J, et al. Extended follow-up of treated and untreated retinopathy in incontinentia pigmenti[J]. JAMA Ophthalmol, 2015, 133(5): 542. doi:10.1001/jamaophthalmol.2015.22
[37] 蒋姣姣, 张琦, 丁芝祥, 等. 色素失禁症患者的眼底表现及治疗[J]. 国际眼科杂志, 2021, 21(3): 561-566. doi:10.3980/j.issn.1672-5123.2021.3.39 JIANG Jiaojiao, ZHANG Qi, DING Zhixiang, et al. Fundus manifestations and treatment of pigment incontinence[J]. I nternational Eye Science, 2021, 21(3): 561-566. doi:10.3980/j.issn.1672-5123.2021.3.39
[38] Temkar S, Azad S, Chawla R, et al. Ultra-widefield fundus fluorescein angiography in pediatric retinal vascular diseases[J]. Indian J Ophthalmol, 2019, 67(6): 788. doi:10.4103/ijo.ijo_1688_18
[39] Kunkler AL, Patel NA, Russell JF, et al. Intraoperative OCT angiography in children with incontinentia pigmenti[J]. Ophthalmol Retina, 2022, 6(4): 330-332. doi:10.1016/j.oret.2022.01.001
[40] Kim SJ, Yang J, Liu G, et al. Optical coherence tomography angiography and ultra-widefield optical coherence tomography in a child with incontinentia pigmenti[J]. Ophthalmic Surg Lasers Imaging Retina, 2018, 49(4):273-275. doi: 10.3928/23258160-20180329-11
[41] Bodemer C, Diociaiuti A, Hadj-Rabia S, et al. Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti[J]. J Eur Acad Dermatol Venereol, 2020, 34(7): 1415-1424. doi:10.1111/jdv.16403
[42] Schmid K, Dohmen H, Ritschel N, et al. SangeR: the high-throughput Sanger sequencing analysis pipeline[J]. Bioinform Adv, 2022, 2(1): vbac009. doi:10.1093/bioadv/vbac009
[43] Taylor SC, Nadeau K, Abbasi M, et al. The ultimate qPCR experiment: producing publication quality, reproducible data the first time[J]. Trends Biotechnol, 2019, 37(7): 761-774. doi:10.1016/j.tibtech.2018.12.002
[44] How KN, Leong HJY, Pramono ZAD, et al. Uncovering incontinentia pigmenti: from DNA sequence to pathophysiology[J]. Front Pediatr, 2022, 10: 900606. doi:10.3389/fped.2022.900606
[45] Kawai M, Sugimoto A, Ishihara Y, et al. Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report[J]. BMC Pediatr, 2022, 22(1):378. doi: 10.1186/s12887-022-03444-6
[46] Durdu M, Eskiocak AH. The predictive diagnostic value of the cytological findings in incontinentia pigmenti: a preliminary report[J]. Clin Exp Dermatol, 2021, 46(6): 1120-1123. doi:10.1111/ced.14646
[47] Cunha AM, Breda J, Rocha-Sousa A, et al. Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction[J].Documenta Ophthalmol, 2021, 143(1): 93-98. doi:10.1007/s10633-021-09824-0
[48] Rr P, Douch C, Aan Koh MJ, et al. Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes[J]. Eur J Paediatr Neurol, 2021, 33: 106-111. doi:10.1016/j.ejpn.2021.05.012
[49] Rishi P, Singh N, Rishi E. Retinopathy in incontinentia pigmenti[J]. Indian J Ophthalmol, 2019, 67(6): 940. doi:10.4103/ijo.ijo_760_18
[50] Özdek ?瘙塁, Zeydanlı EÖ, Baumal C, et al. Avascular peripheral retina in infants[J]. Turk J Ophthalmol, 2023, 53(1): 44-57. doi:10.4274/tjo.galenos.2022.76436
[51] Ocaña Jaramillo S, del Boz J, Vera Casaño Á. Incontinencia pigmenti. estudio descriptivo de la experiencia en dos centros hospitalarios[J]. Anales De Pediatría, 2020, 92(1): 3-12. doi:10.1016/j.anpedi.2019.04.004
[52] Michel S, Reynaud C, Daruich A, et al. Early management of sight threatening retinopathy in incontinentia pigmenti[J]. Orphanet J Rare Dis, 2020, 15(1): 223. doi:10.1186/s13023-020-01509-2
[53] 冉宏运, 蒋可可. 早产儿视网膜病变患儿屈光影响因素研究进展[J]. 山东大学耳鼻喉眼学报, 2021, 35(5): 118-124. doi:10.6040/j.issn.1673-3770.0.2020.418 RAN Hongyun, JIANG Keke. Analysis of underlying factors of refractive errors in infants with retinopathy of prematurity[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2021, 35(5): 118-124. doi:10.6040/j.issn.1673-3770.0.2020.418
[54] Cernichiaro-Espinosa LA, Patel NA, Bauer M, et al. Revascularization after intravitreal bevacizumab and laser therapy of bilateral retinal vascular occlusions in incontinentia pigmenti(Bloch-sulzberger syndrome)[J]. Ophthalmic Surg Lasers Imaging Retina, 2019, 50(2):33-37. doi: 10.3928/23258160-20190129-16
[55] Ni YQ, Huang X, Ruan L, et al. Intravitreal injection of ranibizumab in severe retinopathy of incontinentia pigmenti[J]. J Am Assoc Pediatr Ophthalmol Strabismus, 2018, 22(4): 325-327.e3. doi:10.1016/j.jaapos.2018.01.008
[56] Liang L, Yang YL, Bu SC, et al. Case report: a case of cotton-wool spots after intravitreal injection of conbercept in an infant with incontinentia pigmenti[J]. Front Med(Lausanne), 2021, 8:761398. doi: 10.3389/fmed.2021.761398
[57] Kunzmann S, Ngyuen T, Stahl A, et al. Necrotizing enterocolitis after intravitreal bevacizumab in an infant with Incontinentia Pigmenti–a case report[J]. BMC Pediatr, 2019, 19(1):353. doi: 10.1186/s12887-019-1732-z
[58] Belenje A, Jalali S. Combined rhegmatogenous and tractional retinal detachment in a child with incontinentia pigmenti managed by scleral imbrication with scleral buckle[J]. BMJ Case Rep, 2023, 16(2): e253738. doi:10.1136/bcr-2022-253738
[59] Oranges T, El Hachem M, Filippeschi C, et al. The potential role of propranolol in incontinentia pigmenti[J]. Dermatol Ther, 2021, 34(1): 14737. doi:10.1111/dth.14737
[60] Dogbevia GK, Töllner K, Körbelin J, et al. Gene therapy decreases seizures in a model ofIncontinentia pigmenti[J]. Ann Neurol, 2017, 82(1): 93-104. doi:10.1002/ana.24981
[61] Han IC. Retinal Vascular Disease in Incontinentia Pigmenti is the Rule rather than the Exception[J]. Ophthalmol Retina, 2022, 6(12): 1111-1112. doi:10.1016/j.oret.2022.09.001
[62] Vega-Castillo JJ, Martín-Santiago A. Translated article] RF-diagnosis and management of incontinentia pigmenti: an update[J]. Actas Dermo Sifiliográficas, 2022, 113(6): T624-T626. doi:10.1016/j.ad.2020.11.039

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