West China Journal of Stomatology ›› 2019, Vol. 37 ›› Issue (2): 130-142.doi: 10.7518/hxkq.2019.02.003
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En Luo,Bing Shi,Qianming Chen,Xuedong Zhou()
Received:
2018-12-05
Revised:
2019-01-16
Online:
2019-04-01
Published:
2019-04-28
Contact:
Xuedong Zhou
E-mail:zhouxd@scu.edu.cn
Supported by:
CLC Number:
En Luo,Bing Shi,Qianming Chen,Xuedong Zhou. Dental-craniofacial manifestation and treatment of rare diseases in China[J]. West China Journal of Stomatology, 2019, 37(2): 130-142.
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Tab 1
Dental-craniofacial manifestations of tooth dysplasia related rare diseases
罕见病 | 病因 | 主要临床表现 | 牙颌面表现 | 发生率/%* | 发病时期/岁# |
---|---|---|---|---|---|
ED | 外胚层结构异常 | 毛发异常脆弱卷曲,厚而脆弱变 | 1)先天缺牙,钉型牙及点状牙,牛牙 | 80 | 0.5~14 |
色的指(趾)甲,皮肤红褐色色 | 症和釉质、牙本质发育不良 | ||||
素沉着,体温偏高,易受感染 | 2)唾液分泌减少 | 30.2 | 0~14 | ||
WS | 第7号染色体q11.23 | 智力低下,心血管疾病,发育受 | 1)下颌较小,嘴宽大,下唇大而松弛 | 75~91 | 0~14 |
区基因缺失 | 限,过激社会人格 | 2)牙排列稀疏,先天缺牙和釉质发育 | 38~93 | 0.5~6 | |
不良,常伴错畸形 | |||||
CEP | 第10号染色体q25.2- | 皮肤增厚、色素沉着伴大疱性病 | 1)面部结痂或瘢痕 | 47 | 0~6 |
q26.3区域基因突变 | 损,贫血,干眼症 | 2)牙齿:微红色荧光,边界清晰的红 | 73 | 0.5~14 | |
棕色变色 | |||||
3)颅骨、颌骨的圆形硬化性溶骨性病 | 41 | >18 | |||
损 |
Tab 2
Dental-craniofacial manifestations of bone tissue abnormality related rare diseases
罕见病 | 病因 | 主要临床表现 | 牙颌面表现 | 发生率/%* | 发病时期/岁# |
---|---|---|---|---|---|
OI | col1a1或 col1a2基因 | 骨脆性增加,长骨弯曲畸形,关 | 1)面部畸形伴频发骨折 | 60 | - |
突变 | 节松弛,蓝灰色巩膜,听力受损 | 2)牙本质发育不全 | 28~80 | 0~14 | |
3)错畸形,牙迟萌 | 60~80 | 0.5~6 | |||
HR | 磷酸调节内肽酶基因 | 身材矮小,骨骼畸形,骨痛,听 | 1)原发性颅缝早闭 | - | 出生时 |
的功能丧失型突变 | 力受损 | 2)反复性非龋源性、非外伤性的脓肿 | 10.5~64.7 | 0~6 | |
3)牙迟萌,牛牙症 | 42.1~85.7 | 0~14 | |||
HPP | 组织非特异性碱性磷 | 围产期HPP:膜状颅、肢体畸 | 1)颅骨骨缝未闭,颅骨骨化不完全 | 31~40 | 出生时 |
酸酶基因突变 | 形、呼吸衰竭;婴幼儿期HPP: | 2)乳牙早失,壳状牙,牙本质发育不 | 14 | 0~14 | |
发育受限、连枷胸;儿童期 | 全,恒牙龋坏 | ||||
HPP:行走障碍、反复性骨折、 | |||||
囟门未闭;成人期HPP:足部疼 | |||||
痛、股骨假性骨折、关节炎 | |||||
MFS | fbn1 基因突变 | 四肢细长,蜘蛛指(趾),晶状 | 1)颅骨长而窄,腭盖高拱,颌骨发育 | 63.6 | 0~14 |
体异位;胸闷气短,四肢发凉 | 不良 | ||||
2)牙列拥挤,开 | - | 0~14 | |||
MAS | gnas基因突变 | 多发性骨纤维异常增殖症,咖啡 | 1)面部发育不对称,伴有广泛性骨纤 | 62~100 | 0~6 |
色皮肤色素沉着,内分泌疾病 | 维异常增殖症 | ||||
(性早熟、睾丸发育异常、甲状 | 2)口腔黏膜色素沉着 | 70~90 | 出生时 | ||
腺功能亢进等) | 3)错畸形,牙本质发育不良,牛牙 | - | 0.5~14 | ||
症,高患龋风险 | |||||
KS | 游离GnRH缺乏 | 青春期推迟,原发性闭经或睾丸 | 1)唇裂,腭裂,腭盖高拱 | 25~30 | 出生时 |
发育异常,嗅觉完全丧失,听力 | 2)先天缺牙、畸形牙等 | 5~10 | 0.5~6 | ||
受损 | |||||
FA | fa或fa样基因突变 | 骨髓衰竭,急性髓系白血病,皮 | 1)小头畸形,三角形面部 | 51 | 0~6 |
肤色素沉着,身材矮小,桡骨和 | 2)头颈部肿瘤 | 14 | >18 | ||
拇指异常 |
Tab 3
Dental-craniofacial manifestations of skin, mucosa and soft tissue abnormality related rare diseases
罕见病 | 病因 | 主要临床表现 | 牙颌面表现 | 发生率/%* | 发病时期/岁# |
---|---|---|---|---|---|
EB | 基因突变引起皮肤 | 手足受摩擦处易起水疱 | 1)口腔黏膜大疱病损,可伴瘢痕形 | 38.6~94.8 | 围产期 |
表皮层和真皮层之 | 成或口腔前庭闭塞 | ||||
间附着的缺陷 | 2)釉质发育不全和/或龋病 | 18.1~100 | 0~6 | ||
PJS | lkb1基因突变 | 肠道良性错构瘤性息肉;手足部 | 唇部、口腔(牙龈、硬腭及颊)黏 | 90~95 | 0~4 |
皮肤色素沉着斑点 | 膜的色素沉着斑块 | ||||
MPS | 溶酶体酶缺失或功 | 发育迟缓,智力低下,身材矮 | 1)腭盖高拱、牙槽突肥大 | 56.3~85.7 | 0~14 |
能障碍 | 小,运动功能障碍,听力受损, | 2)舌体增大、牙龈增生、前牙开 | 70~86.7 | 0~14 | |
呼吸窘迫,阻塞性睡眠呼吸暂 | 3)牙迟萌,牙列拥挤 | 75~85.7 | 0.5~6 | ||
停,心脏瓣膜病 | |||||
MD | IgG4异常沉积相关 | 泪腺持续性无痛性肿胀,肺间质 | 无痛性的腮腺、下颌下腺、舌下腺持 | 54.5~100 | >18 |
性炎症 | 纤维化 | 续性肿胀 | |||
AL | 免疫球蛋白轻链异 | 肾衰,心衰,肝肿大 | 巨舌症,下颌下腺肿胀 | 8~20 | >18 |
常沉积 |
Tab 4
Dental-craniofacial manifestations of other related rare diseases
罕见病 | 病因 | 主要临床表现 | 牙颌面表现 | 发生率/%* | 发病时期/岁# |
---|---|---|---|---|---|
AS | 第15号染色体q11- | 发育迟缓,运动和平衡障碍,行 | 1)行为异常,频繁大笑,口腔运动功 | 75 | 0~6 |
q13区域基因突变 | 为异常(过于兴奋好动等),癫 | 能低下 | |||
痫、脑电图异常 | 2)舌外伸,下颌前突,嘴宽大,牙齿 | - | 0~14 | ||
排列稀疏 | |||||
LCH | 朗格汉斯细胞异常 | 溶骨性病损,发热,尿崩症(韩- | 1)口腔黏膜溃疡、结痂或肉芽肿,并 | 24 | 0~14 |
过度增殖 | 薛-柯病),头皮、耳道和腹部等 | 伴有疼痛肿胀 | |||
处的瘢痕性皮肤损害(勒-雪病) | 2)颅颌面部骨损害呈穿凿样外观 | 55~80 | - | ||
3)牙龈坏死、牙移位和牙槽骨破坏 | - | - |
[1] |
Dawkins HJS, Draghia-Akli R, Lasko P , et al. Progress in rare diseases research 2010—2016: an IRDiRC perspective[J]. Clin Transl Sci, 2018,11(1):11-20.
doi: 10.1111/cts.12501 URL |
[2] |
Azie N, Vincent J . Rare diseases: the bane of modern society and the quest for cures[J]. Clin Pharmacol Ther, 2012,92(2):135-139.
doi: 10.1038/clpt.2012.97 URL |
[3] |
Schieppati A, Henter JI, Daina E , et al. Why rare diseases are an important medical and social issue[J]. Lancet, 2008,371(9629):2039-2041.
doi: 10.1016/S0140-6736(08)60872-7 URL |
[4] | Melnikova I . Rare diseases and orphan drugs[J]. Nat Rev Drug Discov, 2012,11(4):267-268. |
[5] | Ekins S . Industrializing rare disease therapy discovery and development[J]. Nat Biotechnol, 2017,35(2):117-118. |
[6] | James W, Berger T, Elston D . Andrews’ diseases of the skin: clinical dermatology[M]. 12th ed. Philadelphia: Elsevier, 2016: 573-582 |
[7] |
Halai TN, Stevens C . Ectodermal dysplasia: a clinical overview for the dental practitioner[J]. Dent Update, 2015,42(8):779-790.
doi: 10.12968/denu.2015.42.8.779 URL |
[8] |
Lexner MO, Bardow A, Hertz JM , et al. Anomalies of tooth formation in hypohidrotic ectodermal dysplasia[J]. Int J Paediatr Dent, 2007,17(1):10-18.
doi: 10.1111/ipd.2007.17.issue-1 URL |
[9] |
Rad AS, Siadat H, Monzavi A , et al. Full mouth rehabilitation of a hypohidrotic ectodermal dysplasia patient with dental implants: a clinical report[J]. J Prosthodont, 2007,16(3):209-213.
doi: 10.1111/jopr.2007.16.issue-3 URL |
[10] |
Borzabadi-Farahani A . Orthodontic considerations in restorative management of hypodontia patients with endosseous implants[J]. J Oral Implantol, 2012,38(6):779-791.
doi: 10.1563/AAID-JOI-D-11-00022 URL |
[11] |
Pober BR . Williams-Beuren syndrome[J]. N Engl J Med, 2010,362(3):239-252.
doi: 10.1056/NEJMra0903074 URL |
[12] |
Torres CP, Valadares G, Martins MI , et al. Oral findings and dental treatment in a child with Williams-Beuren syndrome[J]. Braz Dent J, 2015,26(3):312-316.
doi: 10.1590/0103-6440201300335 URL |
[13] |
Martens MA, Wilson SJ, Reutens DC . Research review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype[J]. J Child Psychol Psychiatry, 2008,49(6):576-608.
doi: 10.1111/j.1469-7610.2008.01887.x URL |
[14] |
Lee WH, Tai WC, Wu PY . Congenital erythropoietic porphyria[J]. Dermatologica Sinica, 2012,30(2):62-65.
doi: 10.1016/j.dsi.2011.09.012 URL |
[15] | Berry AA, Desnick RJ, Astrin KH , et al. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype[J]. Arch Dermatol, 2005,141(12):1575-1579. |
[16] |
Poh-Fitzpatrick MB . The erythropoietic porphyrias[J]. Dermatol Clin, 1986,4(2):291-296.
doi: 10.1016/S0733-8635(18)30833-7 URL |
[17] |
Fritsch C, Bolsen K, Ruzicka T , et al. Congenital erythropoietic porphyria[J]. J Am Acad Dermatol, 1997,36(4):594-610.
doi: 10.1016/S0190-9622(97)70249-4 URL |
[18] |
Hallai N, Anstey A, Mendelsohn S , et al. Pregnancy in a patient with congenital erythropoietic porphyria[J]. N Engl J Med, 2007,357(6):622-623.
doi: 10.1056/NEJMc070009 URL |
[19] |
Katugampola RP, Badminton MN, Finlay AY , et al. Congenital erythropoietic porphyria: a singleobserver clinical study of 29 cases[J]. Br J Dermatol, 2012,167(4):901-913.
doi: 10.1111/bjd.2012.167.issue-4 URL |
[20] |
Peinado CM, de Heredia CD, To-Figueras J , et al. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation[J]. Pediatr Dermatol, 2013,30(4):484-489.
doi: 10.1111/pde.2013.30.issue-4 URL |
[21] |
Katugampola RP, Anstey AV, Finlay AY , et al. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases[J]. Br J Dermatol, 2012,167(4):888-900.
doi: 10.1111/bjd.2012.167.issue-4 URL |
[22] |
Forlino A, Marini JC . Osteogenesis imperfecta[J]. Lancet, 2016,387(10028):1657-1671.
doi: 10.1016/S0140-6736(15)00728-X URL |
[23] |
Rauch F, Glorieux FH . Osteogenesis imperfecta[J]. Lancet, 2004,363(9418):1377-1385.
doi: 10.1016/S0140-6736(04)16051-0 URL |
[24] |
Brizola E, Staub AL, Félix TM . Muscle strength, joint range of motion, and gait in children and adolescents with osteogenesis imperfecta[J]. Pediatr Phys Ther, 2014,26(2):245-252.
doi: 10.1097/PEP.0000000000000042 URL |
[25] |
Swinnen FK , Coucke PJ, de Paepe AM , et al. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype[J]. Orphanet J Rare Dis, 2011,6(1):88.
doi: 10.1186/1750-1172-6-88 URL |
[26] |
Land C, Rauch F, Montpetit K , et al. Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta[J]. J Pediatr, 2006,148(4):456-460.
doi: 10.1016/j.jpeds.2005.10.041 URL |
[27] |
Carpenter TO, Imel EA, Holm IA , et al. A clinician’s guide to X-linked hypophosphatemia[J]. J Bone Miner Res, 2011,26(7):1381-1388.
doi: 10.1002/jbmr.340 URL |
[28] | Lee JY, Imel EA . The changing face of hypophosphatemic disorders in the FGF-23 era[J]. Pediatr Endocrinol Rev, 2013,10(Suppl 2):367-379. |
[29] |
Pavone V, Testa G, Gioitta Iachino S , et al. Hypophosphatemic rickets: etiology, clinical features and treatment[J]. Eur J Orthop Surg Traumatol, 2015,25(2):221-226.
doi: 10.1007/s00590-014-1496-y URL |
[30] |
Kinoshita Y, Fukumoto S . X-linked hypophosphatemia and FGF23-related hypophosphatemic diseases: prospect for new treatment[J]. Endocr Rev, 2018,39(3):274-291.
doi: 10.1210/er.2017-00220 URL |
[31] |
Vakharia JD, Matlock K, Taylor HO , et al. Craniosynostosis as the presenting feature of X-linked hypophosphatemic rickets[J]. Pediatrics, 2018,141(Suppl 5):S515-S519.
doi: 10.1542/peds.2017-2522 URL |
[32] |
Opsahl Vital S, Gaucher C, Bardet C , et al. Tooth dentin defects reflect genetic disorders affecting bone mineralization[J]. Bone, 2012,50(4):989-997.
doi: 10.1016/j.bone.2012.01.010 URL |
[33] |
Souza AP, Kobayashi TY, Lourenço Neto N , et al. Dental manifestations of patient with vitamin D-resistant rickets[J]. J Appl Oral Sci, 2013,21(6):601-606.
doi: 10.1590/1679-775720130249 URL |
[34] | Rabbani A, Rahmani P, Ziaee V , et al. Dental problems in hypophosphatemic rickets, a cross sectional study[J]. Iran J Pediatr, 2012,22(4):531-534. |
[35] |
Sabandal MM, Robotta P, Bürklein S , et al. Review of the dental implications of X-linked hypophosphataemic rickets (XLHR)[J]. Clin Oral Investig, 2015,19(4):759-768.
doi: 10.1007/s00784-015-1425-4 URL |
[36] |
Sharkey MS, Grunseich K, Carpenter TO . Contemporary medical and surgical management of X-linked hypophosphatemic rickets[J]. J Am Acad Orthop Surg, 2015,23(7):433-442.
doi: 10.5435/JAAOS-D-14-00082 URL |
[37] | Makitie O, Toiviainen-Salo S, Marttinen E , et al. Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets[J]. Horm Res, 2008,69(4):212-220. |
[38] |
Linglart A, Biosse-Duplan M . Hypophosphatasia[J]. Curr Osteoporos Rep, 2016,14(3):95-105.
doi: 10.1007/s11914-016-0309-0 URL |
[39] |
Millán JL . The role of phosphatases in the initiation of skeletal mineralization[J]. Calcif Tissue Int, 2013,93(4):299-306.
doi: 10.1007/s00223-012-9672-8 URL |
[40] | Millán JL, Plotkin H . Hypophosphatasia—pathophysiology and treatment[J]. Actual En Osteol, 2012,8(3):164-182. |
[41] |
Whyte MP, Zhang F, Wenkert D , et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients[J]. Bone, 2015,75:229-239.
doi: 10.1016/j.bone.2015.02.022 URL |
[42] |
Whyte MP . Hypophosphatasia—aetiology, nosology, pathogenesis, diagnosis and treatment[J]. Nat Rev Endocrinol, 2016,12(4):233-246.
doi: 10.1038/nrendo.2016.14 URL |
[43] |
Whyte MP, Rockman-Greenberg C, Ozono K , et al. Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia[J]. J Clin Endocrinol Metab, 2016,101(1):334-342.
doi: 10.1210/jc.2015-3462 URL |
[44] |
Bianchi ML . Hypophosphatasia: an overview of the disease and its treatment[J]. Osteoporos Int, 2015,26(12):2743-2757.
doi: 10.1007/s00198-015-3272-1 URL |
[45] |
Hofmann C, Girschick HJ, Mentrup B . Clinical aspects ofhypophosphatasia: an update[J]. Clinic Rev Bone Miner Metab, 2013,11(2):60-70.
doi: 10.1007/s12018-013-9139-0 URL |
[46] |
Whyte MP . Physiological role of alkaline phosphatase explored in hypophosphatasia[J]. Ann N Y Acad Sci, 2010,1192(1):190-200.
doi: 10.1111/j.1749-6632.2010.05387.x URL |
[47] |
Arun R, Khazim R, Webb JK , et al. Scoliosis in association with infantile hypophosphatasia: a case study in two siblings[J]. Spine, 2005,30(16):E471-E476.
doi: 10.1097/01.brs.0000174277.03526.de URL |
[48] |
Sutton RA, Mumm S, Coburn SP , et al. “Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia[J]. J Bone Miner Res, 2012,27(5):987-994.
doi: 10.1002/jbmr.1565 URL |
[49] |
Coe JD, Murphy WA, Whyte MP . Management of femoral fractures and pseudofractures in adult hypophosphatasia[J]. J Bone Joint Surg Am, 1986,68(7):981-990.
doi: 10.2106/00004623-198668070-00004 URL |
[50] |
de Roo MGA, Abeling N, Majoie CB , et al. Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures[J]. Mol Genet Metab, 2014,111(3):404-407.
doi: 10.1016/j.ymgme.2013.09.014 URL |
[51] |
Rodriguez E, Bober MB, Davey L , et al. Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy[J]. Pediatr Pulmonol, 2012,47(9):917-922.
doi: 10.1002/ppul.22527 URL |
[52] |
Taketani T, Oyama C, Mihara A , et al. Ex vivo expanded allogeneic mesenchymal stem cells with bone marrow transplantation improved osteogenesis in infants with severe hypophosphatasia[J]. Cell Transplant, 2015,24(10):1931-1943.
doi: 10.3727/096368914X685410 URL |
[53] |
Whyte MP, Greenberg CR, Salman NJ , et al. Enzyme-replacement therapy in life-threatening hypophosphatasia[J]. N Engl J Med, 2012,366(10):904-913.
doi: 10.1056/NEJMoa1106173 URL |
[54] |
McKusick VA . The defect in Marfan syndrome[J]. Nature, 1991,352(6333):279-281.
doi: 10.1038/352279a0 |
[55] |
Matt P, Habashi J, Carrel T , et al. Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan[J]. J Thorac Cardiovasc Surg, 2008,135(2):389-394.
doi: 10.1016/j.jtcvs.2007.08.047 URL |
[56] |
Pyeritz RE . The Marfan syndrome[J]. Annu Rev Med, 2000,51(1):481-510.
doi: 10.1146/annurev.med.51.1.481 URL |
[57] |
Loeys BL, Dietz HC, Braverman AC , et al. The revised Ghent nosology for the Marfan syndrome[J]. J Med Genet, 2010,47(7):476-485.
doi: 10.1136/jmg.2009.072785 URL |
[58] |
Nollen GJ, van Schijndel KE, Timmermans J , et al. Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion[J]. Heart, 2002,87(5):470-471.
doi: 10.1136/heart.87.5.470 URL |
[59] |
Waldmuller S, Muller M, Warnecke H , et al. Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation[J]. Eur J Cardiothorac Surg, 2007,31(6):970-975.
doi: 10.1016/j.ejcts.2007.02.027 URL |
[60] | Zadeh N, Bernstein JA, Niemi AK , et al. Ectopia lentis as the presenting and primary feature in Marfan syndrome[J]. Am J Med Genet A, 2011,155A(11):2661-2668. |
[61] |
Nemet AY, Assia EI, Apple DJ , et al. Current concepts of ocular manifestations in Marfan syndrome[J]. Surv Ophthalmol, 2006,51(6):561-575.
doi: 10.1016/j.survophthal.2006.08.008 URL |
[62] |
Judge DP, Dietz HC . Marfan’s syndrome[J]. Lancet, 2005,366(9501):1965-1976.
doi: 10.1016/S0140-6736(05)67789-6 URL |
[63] |
Engelfriet PM, Boersma E, Tijssen JG , et al. Beyond the root: dilatation of the distal aorta in Marfan’s syndrome[J]. Heart, 2006,92(9):1238-1243.
doi: 10.1136/hrt.2005.081638 URL |
[64] |
Ladouceur M, Fermanian C, Lupoglazoff JM , et al. Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome[J]. Am J Cardiol, 2007,99(3):406-409.
doi: 10.1016/j.amjcard.2006.08.048 URL |
[65] |
Detaint D, Aegerter P, Tubach F , et al. Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin Ⅱ receptor blocker therapy versus placebo in individuals with Marfan syndrome[J]. Arch Cardiovasc Dis, 2010,103(5):317-325.
doi: 10.1016/j.acvd.2010.04.008 URL |
[66] | Cañadas V, Vilacosta I, Bruna I , et al. Marfan syndrome. Part 2: treatment and management of patients[J]. Nat Rev Cardiol, 2010,7(5):266-276. |
[67] |
Dumitrescu CE, Collins MT . McCune-Albright syndrome[J]. Orphanet J Rare Dis, 2008,3:12.
doi: 10.1186/1750-1172-3-12 |
[68] | Boyce AM, Collins MT. Fibrous dysplasia/McCune-Albright syndrome[M]. Seattle (WA): University of Washington Press, 2015: 178-186. |
[69] |
Brillante B, Guthrie L, Van Ryzin C . McCune-Albright syndrome: an overview of clinical features[J]. J Pediatr Nurs, 2015,30(5):815-817.
doi: 10.1016/j.pedn.2015.06.009 URL |
[70] |
Pichard DC, Boyce AM, Collins MT , et al. Oral pigmentation in McCune-Albright syndrome[J]. JAMA Dermatol, 2014,150(7):760-763.
doi: 10.1001/jamadermatol.2014.184 URL |
[71] |
Collins MT, Singer FR, Eugster E . McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia[J]. Orphanet J Rare Dis, 2012,7(Suppl 1):S4.
doi: 10.1186/1750-1172-7-S1-S4 URL |
[72] |
Lee JS , FitzGibbon EJ, Chen YR , et al. Clinical guidelines for the management of craniofacial fibrous dysplasia[J]. Orphanet J Rare Dis, 2012,7(Suppl 1):S2.
doi: 10.1186/1750-1172-7-S1-S2 URL |
[73] |
Salenave S, Boyce AM, Collins MT , et al. Acromegaly and McCune-Albright syndrome[J]. J Clin Endocrinol Metab, 2014,99(6):1955-1969.
doi: 10.1210/jc.2013-3826 URL |
[74] |
Akintoye SO, Lee JS, Feimster T , et al. Dental characteristics of fibrous dysplasia and McCune-Albright syndrome[J]. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 2003,96(3):275-282.
doi: 10.1016/S1079-2104(03)00225-7 URL |
[75] |
Akintoye SO, Boyce AM, Collins MT . Dental perspectives in fibrous dysplasia and McCune-Albright syndrome[J]. Oral Surg Oral Med Oral Pathol Oral Radiol, 2013,116(3):e149-e155.
doi: 10.1016/j.oooo.2013.05.023 URL |
[76] |
Paul SM, Gabor LR, Rudzinski S , et al. Disease severity and functional factors associated with walking performance in polyostotic fibrous dysplasia[J]. Bone, 2014,60:41-47.
doi: 10.1016/j.bone.2013.11.022 URL |
[77] |
Stanton RP, Ippolito E, Springfield D , et al. The surgical management of fibrous dysplasia of bone[J]. Orphanet J Rare Dis, 2012,7(Suppl 1):S1.
doi: 10.1186/1750-1172-7-S1-S1 URL |
[78] | Tessaris D, Corrias A, Matarazzo P , et al. Thyroid abnormalities in children and adolescents with McCune-Albright syndrome[J]. Horm Res Paediatr, 2012,78(3):151-157. |
[79] |
Ozawa T, Tateishi C, Shirakawa M , et al. Long-term follow-up of a case of cheek hyperpigmentation associated with McCune-Albright syndrome treated with Q-switched ruby laser[J]. Dermatol Surg, 2011,37(2):263-266.
doi: 10.1111/j.1524-4725.2010.01864.x URL |
[80] |
Stamou MI, Georgopoulos NA . Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism[J]. Metab Clin Exp, 2018,86:124-134.
doi: 10.1016/j.metabol.2017.10.012 URL |
[81] | Balasubramanian R, Crowley WF Jr. Isolated gonadotropin-releasing hormone (GnRH) deficiency[M]. Seattle: Univ. Washington Press, 2017: 1993-2019. |
[82] |
Balasubramanian R, Crowley WF Jr . Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network[J]. Mol Cell Endocrinol, 2011,346(1/2):4-12.
doi: 10.1016/j.mce.2011.07.012 URL |
[83] |
Boehm U, Bouloux PM, Dattani MT , et al. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism: pathogenesis, diagnosis and treatment[J]. Nat Rev Endocrinol, 2015,11(9):547-564.
doi: 10.1038/nrendo.2015.112 URL |
[84] |
Dodé C, Hardelin JP . Kallmann syndrome[J]. Eur J Hum Genet, 2009,17(2):139-146.
doi: 10.1038/ejhg.2008.206 |
[85] |
Laitinen EM, Hero M, Vaaralahti K , et al. Bone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism[J]. Int J Androl, 2012,35(4):534-540.
doi: 10.1111/ija.2012.35.issue-4 URL |
[86] |
Chan E, Wayne C, Nasr A , et al. Ideal timing of orchiopexy: a systematic review[J]. Pediatr Surg Int, 2014,30(1):87-97.
doi: 10.1007/s00383-013-3429-y URL |
[87] |
Bagby GC, Alter BP . Fanconi anemia[J]. Semin Hematol, 2006,43(3):147-156.
doi: 10.1053/j.seminhematol.2006.04.005 URL |
[88] |
Bagby GCJ . Genetic basis of Fanconi anemia[J]. Curr Opin Hematol, 2003,10(1):68-76.
doi: 10.1097/00062752-200301000-00011 URL |
[89] | Godthelp BC, Artwert F, Joenje H , et al. Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group D1[J]. Oncogene, 2002,21(32):5002-5005. |
[90] |
Chirnomas SD, Kupfer GM . The inherited bone marrow failure syndromes[J]. Pediatr Clin North Am, 2013,60(6):1291-1310.
doi: 10.1016/j.pcl.2013.09.007 URL |
[91] |
Rosenberg PS, Huang Y, Alter BP . Individualized risks of first adverse events in patients with Fanconi anemia[J]. Blood, 2004,104(2):350-355.
doi: 10.1182/blood-2004-01-0083 URL |
[92] |
Sii-Felice K, Barroca V, Etienne O , et al. Role of Fanconi DNA repair pathway in neural stem cell homeostasis[J]. Cell Cycle, 2008,7(13):1911-1915.
doi: 10.4161/cc.7.13.6235 URL |
[93] |
Törnquist AL, Martin L, Winiarski J , et al. Ocular manifestations and visual functions in patients with Fanconi anaemia[J]. Acta Ophthalmol, 2014,92(2):171-178.
doi: 10.1111/aos.12132 URL |
[94] | Peffault de Latour R, Peters C, Gibson B , et al. Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes[J]. Bone Marrow Transplant, 2015,50(9):1168-1172. |
[95] |
Rio P, Banos R, Lombardo A , et al. Targeted gene therapy and cell reprogramming in Fanconi anemia[J]. EMBO Mol Med, 2014,6(6):835-848.
doi: 10.15252/emmm.201303374 URL |
[96] |
Dulac O, Lassonde M, Sarnat HB . Pediatric neurology[J]. Handb Clin Neurol, 2013,111:287-290.
doi: 10.1016/B978-0-444-52891-9.00032-4 URL |
[97] | Has C, Fischer J . Inherited epidermolysis bullosa: new diagnostics and new clinical phenotypes[J]. Exp Dermatol, 2018. DOI: 10.1111/exd.13668. |
[98] | Wright JT, Fine JD, Johnson L . Hereditary epidermolysis bullosa: oral manifestations and dental management[J]. Pediatr Dent, 1993,15(4):242-248. |
[99] | Wright JT, Capps J, Fine JD , et al. Dental caries variation in the different epidermolysis bullosa diseases[J]. J Dent Res, 1989,68:416. |
[100] | Gedde-Dahl T Jr . Epidermolysis bullosa: a clinical, genetic, and epidemiologic study[M]. Baltimore: John Hopkins Press, 1971: 303-307. |
[101] |
Kerns ML , DePianto D, Dinkova-Kostova AT , et al. Reprogramming of keratin biosynjournal by sulforaphane restores skin integrity in epidermolysis bullosa simplex[J]. Proc Natl Acad Sci U S A, 2007,104(36):14460-14465.
doi: 10.1073/pnas.0706486104 URL |
[102] |
Karuman P, Gozani O, Odze RD , et al. The Peutz-Jegher gene product LKB1 is a mediator of p53-dependent cell death[J]. Mol Cell, 2001,7(6):1307-1319.
doi: 10.1016/S1097-2765(01)00258-1 URL |
[103] | James WD, Elston DM, Berger TG . Andrews’ diseases of the skin: clinical dermatology[M]. 7th ed. Philadelphia: Elsevier, 2005: 334-337. |
[104] | Choudhury S, Das A, Misra P , et al. Peutz-jeghers syndrome: a circumventable emergency[J]. Indian J Dermatol, 2018,63(2):168-171. |
[105] |
Boardman LA, Thibodeau SN, Schaid DJ , et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome[J]. Ann Intern Med, 1998,128(11):896-899.
doi: 10.7326/0003-4819-128-11-199806010-00004 URL |
[106] |
Ryan DP, Hong TS, Bardeesy N . Pancreatic adenocarcinoma[J]. N Engl J Med, 2014,371(11):1039-1049.
doi: 10.1056/NEJMra1404198 URL |
[107] |
Beggs AD, Latchford AR, Vasen HF , et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management[J]. Gut, 2010,59(7):975-986.
doi: 10.1136/gut.2009.198499 URL |
[108] |
Higham P, Alawi F, Stoopler ET . Medical management update: peutz jeghers syndrome[J]. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 2010,109(1):5-11.
doi: 10.1016/j.tripleo.2009.08.022 URL |
[109] |
Tebani A, Zanoutene-Cheriet L, Adjtoutah Z , et al. Clinical and molecular characterization of patients with mucopolysaccharidosis typeⅠin an algerian series[J]. Int J Mol Sci, 2016,17(5):E743.
doi: 10.3390/ijms17050743 URL |
[110] |
Melbouci M, Mason RW, Suzuki Y , et al. Growth impairment in mucopolysaccharidoses[J]. Mol Genet Metab, 2018,124(1):1-10.
doi: 10.1016/j.ymgme.2018.03.004 URL |
[111] | Neufeld EF, Muenzer J . The metabolic and molecular bases of inherited disease[M]. New York: McGraw-Hill, 2001: 3421-3452. |
[112] |
Różdżyńska-Świątkowska A, Jurecka A, Cieślik J , et al. Growth patterns in children with mucopolysaccharidosisⅠand Ⅱ[J]. World J Pediatr, 2015,11(3):226-231.
doi: 10.1007/s12519-014-0517-6 URL |
[113] | Shapiro EG, Jones SA, Escolar ML . Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations-neurological signs and symptoms[J]. Mol Genet Metab, 2017,122S:1-7. |
[114] |
Sarmento DJS, de Araujo TK, Mesquita G , et al. Relationship between occlusal features and enzyme replacement therapy in patients with mucopolysaccharidoses[J]. J Oral Maxillofac Surg, 2018,76(4):785-792.
doi: 10.1016/j.joms.2017.10.003 URL |
[115] |
Kantaputra PN, Kayserili H, Guven Y , et al. Oral manifestations of 17 patients affected with mucopolysaccharidosis type Ⅵ[J]. J Inherit Metab Dis, 2014,37(2):263-268.
doi: 10.1007/s10545-013-9645-8 URL |
[116] |
Giugliani R, Federhen A, Rojas MV , et al. MucopolysaccharidosisⅠ, Ⅱ, and Ⅵ: brief review and guidelines for treatment[J]. Genet Mol Biol, 2010,33(4):589-604.
doi: 10.1590/S1415-47572010005000093 URL |
[117] | Harmatz P . Enzyme replacement therapy with galsulfase for mucopolysaccharidosis Ⅵ: clinical facts and figures[J]. Turk J Pediatr, 2010,52(5):443-449. |
[118] |
Kubaski F, Yabe H, Suzuki Y , et al. Hematopoietic stem cell transplantation for patients with mucopolysaccharidosis Ⅱ[J]. Biol Blood Marrow Transplant, 2017,23(10):1795-1803.
doi: 10.1016/j.bbmt.2017.06.020 URL |
[119] |
Sawamoto K, Chen HH, Alméciga-Díaz CJ , et al. Gene therapy for mucopolysaccharidoses[J]. Mol Genet Metab, 2018,123(2):59-68.
doi: 10.1016/j.ymgme.2017.12.434 URL |
[120] | Mikulicz J . Uber eine eigenartige symmetrische erkrankung der tranen und mundspeicheldrusen[M]. Stuttgart: Theodor Billroth, 1892:610-630. |
[121] | Yao Q, Wu G, Hoschar A . IgG4-related Mikulicz’s disease is a multiorgan lymphoproliferative disease distinct from Sjögren’s syndrome: a Caucasian patient and literature review[J]. Clin Exp Rheumatol, 2013,31(2):289-294. |
[122] |
Maehara T, Moriyama M, Nakashima H , et al. Interleukin-21 contributes to germinal centre formation and immunoglobulin G4 production in IgG4-related dacryoadenitis and sialoadenitis, so-called Mikulicz’s disease[J]. Ann Rheum Dis, 2012,71(12):2011-2019.
doi: 10.1136/annrheumdis-2012-201477 URL |
[123] |
Bhatti RM, Stelow EB . IgG4-related disease of the head and neck[J]. Adv Anat Pathol, 2013,20(1):10-16.
doi: 10.1097/PAP.0b013e31827b619e URL |
[124] |
Nelson WR, Kay S, Salley JJ . Mikulicz’s disease of the palate[J]. Ann Surg, 1963,157:152-156.
doi: 10.1097/00000658-196301000-00017 URL |
[125] |
Abe A, Takano K, Seki N , et al. The clinical characteristics of patients with IgG4-related disease with infiltration of the labial salivary gland by IgG4-positive cells[J]. Mod Rheumatol, 2014,24(6):949-952.
doi: 10.3109/14397595.2014.891964 URL |
[126] |
Moriyama M, Tanaka A, Maehara T , et al. Clinical characteristics of Mikulicz’s disease as an IgG4-related disease[J]. Clin Oral Investig, 2013,17(9):1995-2002.
doi: 10.1007/s00784-012-0905-z URL |
[127] |
Merlini G, Bellotti V . Molecular mechanisms of amyloidosis[J]. N Engl J Med, 2003,349(6):583-596.
doi: 10.1056/NEJMra023144 URL |
[128] |
Merlini G, Comenzo RL, Seldin DC , et al. Immunoglobulin light chain amyloidosis[J]. Expert Rev Hematol, 2014,7(1):143-156.
doi: 10.1586/17474086.2014.858594 URL |
[129] |
Milani P, Merlini G, Palladini G . Light chain amyloidosis[J]. Mediterr J Hematol Infect Dis, 2018,10(1):e2018022.
doi: 10.4084/mjhid.2018.022 URL |
[130] |
Prokaeva T, Spencer B, Kaut M , et al. Soft tissue, joint, and bone manifestations of AL amyloidosis: clinical presentation, molecular features, and survival[J]. Arthritis Rheum, 2007,56(11):3858-3868.
doi: 10.1002/(ISSN)1529-0131 URL |
[131] |
Merlini G, Wechalekar AD, Palladini G . Systemic light chain amyloidosis: an update for treating physicians[J]. Blood, 2013,121(26):5124-5130.
doi: 10.1182/blood-2013-01-453001 URL |
[132] |
Mabb AM, Judson MC, Zylka MJ , et al. Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes[J]. Trends Neurosci, 2011,34(6):293-303.
doi: 10.1016/j.tins.2011.04.001 URL |
[133] | Bird LM . Angelman syndrome: review of clinical and molecular aspects[J]. Appl Clin Genet, 2014,7:93-104. |
[134] |
Pelc K, Boyd SG, Cheron G , et al. Epilepsy in Angelman syndrome[J]. Seizure, 2008,17(3):211-217.
doi: 10.1016/j.seizure.2007.08.004 URL |
[135] |
Williams CA, Driscoll DJ, Dagli AI . Clinical and genetic aspects of Angelman syndrome[J]. Genet Med, 2010,12(7):385-395.
doi: 10.1097/GIM.0b013e3181def138 URL |
[136] | Jaffe R, Weiss LM, Facchetti F. WHO classification of tumours of haematopoietic and lymphoid tissues[M]. 4th ed. Lyon: IARC Press, 2008: 30-32. |
[137] |
Margo CE, Goldman DR . Langerhans cell histiocytosis[J]. Surv Ophthalmol, 2008,53(4):332-358.
doi: 10.1016/j.survophthal.2008.04.007 URL |
[138] |
Chu T . Langerhans cell histiocytosis[J]. Australas J Dermatol, 2001,42(4):237-242.
doi: 10.1046/j.1440-0960.2001.00527.x URL |
[139] | Lian CH, Lu Y, Shen SY . Langerhans cell histiocytosis in adults: a case report and review of the literature[J]. Oncotarget, 2016,7(14):18678-18683. |
[140] |
Meyer JS, De Camargo B . The role of radiology in the diagnosis and follow-up of Langerhans cell histiocytosis[J]. Hematol Oncol Clin North Am, 1998,12(2):307-326.
doi: 10.1016/S0889-8588(05)70512-8 URL |
[141] |
Ginat DT, Johnson DN, Cipriani NA . Langerhans cell histiocytosis of the temporal bone[J]. Head Neck Pathol, 2016,10(2):209-212.
doi: 10.1007/s12105-015-0629-x URL |
[142] | Zajko J . Mandibular Langerhans cell histiocytosis in an adult[J]. Bratisl Lek Listy, 2013,114(8):488-490. |
[143] |
Coppes-Zantinga A, Egeler RM . The Langerhans cell histiocytosis X files revealed[J]. Br J Haematol, 2002,116(1):3-9.
doi: 10.1046/j.1365-2141.2002.03232.x URL |
[144] |
Krooks J, Minkov M, Weatherall AG . Langerhans cell histiocytosis in children: diagnosis, differential diagnosis, treatment, sequelae, and standardized follow-up[J]. J Am Acad Dermatol, 2018,78(6):1047-1056.
doi: 10.1016/j.jaad.2017.05.060 URL |
[145] |
Gadner H, Minkov M, Grois N , et al. Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis[J]. Blood, 2013,121(25):5006-5014.
doi: 10.1182/blood-2012-09-455774 URL |
[146] |
Simko SJ , McClain KL, Allen CE . Up-front therapy for LCH: is it time to test an alternative to vinblastine/prednisone[J]. Br J Haematol, 2015,169(2):299-301.
doi: 10.1111/bjh.2015.169.issue-2 URL |
[147] |
Haroche J, Cohen-Aubart F, Emile JF , et al. Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation[J]. Blood, 2013,121(9):1495-1500.
doi: 10.1182/blood-2012-07-446286 URL |
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