罕见病的牙颌面临床表现与治疗

doi:10.7518/hxkq.2019.02.003

摘要/Abstract

摘要：

罕见病是一类遗传性的、慢性的、不可治愈且发病率相对较低的疾病。由于其发病率低,相关医疗资源较为缺乏,对其诊断及治疗的研究也受到限制。近期国家五部委发布的《第一批罕见病目录》纳入了121种罕见病,第一次明确界定了我国罕见病的范围。临床资料显示一些罕见病常伴有牙颌面表现,为了实现对罕见病的早期诊断与治疗,本文对目录纳入的罕见病牙颌面临床表现及相关治疗手段进行总结,以期为口腔科医生提供临床诊断依据。

关键词: 罕见病, 口腔医学, 临床表现, 治疗

Abstract:

Rare diseases are genetic, chronic, and incurable disorders with relatively low prevalence. Thus, diagnosis and management strategies for such diseases are currently limited. This situation is exacerbated by insufficient medical sources for these diseases. The National Health and Health Committee of China recently first provided a clear definition of 121 rare diseases in the Chinese population. In this study, we summarize several dental-craniofacial manifestations associated with some rare diseases to provide a reference for dentists and oral maxillofacial surgeons aiming at fast-tracking diagnosis for the management of these rare diseases.

Key words: rare disease, stomatology, clinical feature, treatment

中图分类号:

罗恩,石冰,陈谦明,周学东. 罕见病的牙颌面临床表现与治疗[J]. 华西口腔医学杂志, 2019, 37(2): 130-142.

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.

图/表 4

表1

表2

骨组织异常相关罕见病的牙颌面症状

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

表2

表3

表4

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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

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

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	-	-