Congenital hemifacial hypertrophy

  • 文章类型: Journal Article
    描述了一例先天性面肌肥大。这种罕见的情况在男性中更为普遍,它的特点是面部不对称。有时候,面部肥大可导致呼吸道阻塞,这可能是致命的。在这里,我们试图提出一个复杂的女性病例的真正的先天性面肌肥大的临床,放射学表现和手术治疗。没有关于半面肌肥大的单一理论可以充分解释病因。一名19个月大的女童因呼吸困难被转诊到我们医院。她有颈部肿胀的半面肥大,耳廓增大伴色素沉着过度,和多毛症。做了放射成像,被诊断为先天性面肌肥大。发现肿块阻塞口咽,扁桃体肿大。经口内镜消融仪辅助切除口咽肿块并切除扁桃体,并固定了气道。从外部切除颈部脂肪块。后续工作进行了两年。先天性面肌肥大是一种罕见的先天性疾病,预后良好。一般来说,侧面部肥大表现为颈部肿胀,耳廓增大伴色素沉着过度,和多毛症。有时当出现呼吸阻塞时,可以证明是致命的,可以通过立即固定气道来管理。在此情况下,通过内窥镜手术切除梗阻进行了处理,没有发现进一步的并发症。
    在线版本包含补充材料,可在10.1007/s12070-024-04525-x获得。
    A case of congenital hemifacial hypertrophy is described. This rare condition is more prevalent in males, and it is characterized by facial asymmetry. Sometimes, Hemifacial hypertrophy can lead to obstruction of the respiratory airway which may prove lethal. Here we made an attempt to present a complicated female case of true congenital hemifacial hypertrophy with its clinical, radiological presentation and surgical treatment. No single theory for hemifacial hypertrophy explains the etiology adequately. A 19-month-old female child was referred to our hospital with difficulty in breathing. She had Hemifacial hypertrophy presents with neck swelling, enlarged ear pinna with hyperpigmentation, and hypertrichosis. Radiological imaging was done, and it was diagnosed as congenital hemifacial hypertrophy. A mass obstructing the oropharynx with tonsillar enlargement was noted. Transoral endoscopic coablator-assisted excision of the oropharyngeal mass with tonsillar excision was done and the airway was secured. The neck fatty mass was excised externally. Follow-up was done for two years. Congenital Hemifacial hypertrophy is a rare congenital condition and has a good prognosis. Generally, Hemifacial hypertrophy presents with neck swelling, enlarged ear pinna with hyperpigmentation, and hypertrichosis. sometimes when presented with respiratory obstruction it can prove fatal which can be managed by securing the airway immediately. Here this case was managed with endoscopic surgical excision of obstruction and no further complications were noted.
    UNASSIGNED: The online version contains supplementary material available at 10.1007/s12070-024-04525-x.
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  • 文章类型: Case Reports
    众所周知,髁突增生会导致面部不对称,并构成公认的单侧下颌扩大组。髁突增生已分为半下颌增生和半下颌伸长。一种罕见得多的疾病,半颜面增生(或半颜面肥大)是一种先天性畸形,其特征是面部硬组织和软组织明显的单侧过度发育。受影响侧的生长速度比非受影响侧的生长速度快,造成明显的不对称,可能涉及骨骼和牙齿,以及相关软组织的所有成分。面部增生通常在出生时被发现,并进展到青春期,但被认为不会在受影响个体的整个一生中发生变化。介绍了5例临床诊断为半颜面增生的患者,为了回顾临床特征,讨论他们的个人手术管理,并总结了最近对可能导致半颜面增生和相关过度生长障碍的基因突变的鉴定。据推测,根据遗传因素,在特定情况下,该疾病可能是进行性的。
    Condylar hyperplasia is known to result in facial asymmetries and constitutes a well-recognized group of unilateral mandibular enlargements. Condylar hyperplasia has been sub-classified into hemimandibular hyperplasia and hemimandibular elongation. A much rarer disorder, hemifacial hyperplasia (or hemifacial hypertrophy) is a congenital malformation characterized by prominent unilateral overdevelopment of the hard and soft tissues of the face. The affected side grows at a faster rate than the non-affected side, creating a marked asymmetry that potentially involves the skeleton and teeth, as well as all components of the associated soft tissues. Hemifacial hyperplasia is usually identified at birth and progresses towards puberty, but is not thought to alter throughout the lifetime of affected individuals. A case series of five patients clinically diagnosed with hemifacial hyperplasia is presented, with the aim of reviewing the clinical features, discussing their individual surgical management, and summarizing the more recent identification of possible genetic mutations that may be responsible for hemifacial hyperplasia and related overgrowth disorders. It is speculated that depending on the genetic factors, the disorder may be progressive in specific cases.
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