hemifacial hyperplasia

半颜面增生
  • 文章类型: Case Reports
    半颜面增生(HFH)是一种罕见的先天性疾病,其特征是面部组织明显的单侧过度生长。HFH的一种亚型是先天性面部浸润性脂肪瘤病(CIL-F)。这种疾病的特征是面部软组织中成熟脂肪细胞的单侧弥漫性浸润,并与骨骼肥大有关。这项工作旨在报告一例aCIL-F患者,在青春期出现右侧面部不对称和进行性生长,由于伴随的单侧髁突增生的迹象导致下颌不对称。十七岁时,进行了髁突切除术以阻止不对称下颌骨生长的进展.五年后,患者发生CIL-F相关颞下颌关节强直,表现为进行性张口受限和颞部面部疼痛。在这个CIL-F患者中,使用同种异体全关节假体的TMJ重建成功地进行了最佳的最大张口,完全缓解颞部面部疼痛,术后1年牙齿咬合稳定。具有完整的同种异体全关节假体的TMJ重建被证明是可预测的,稳定,1例CIL-F相关的颞下颌关节强直患者因进行性下颌骨不对称性而曾接受过髁突切除术治疗,且可选择安全的治疗方案。
    Hemifacial hyperplasia (HFH) is a rare congenital disorder characterized by marked unilateral overgrowth of the facial tissues. A subtype of HFH is congenital infiltrating lipomatosis of the face (CIL-F). This disease is characterized by unilateral diffuse infiltration of mature adipose cells in the facial soft tissue and is associated with skeletal hypertrophy. This work aims to report a case of a CIL-F patient with right facial asymmetry and progressive growth at adolescent age, causing mandibular asymmetry due to signs of concomitant unilateral condylar hyperplasia. At the age of seventeen, a condylectomy was performed to stop the progression of asymmetric mandibular growth. Five years later, the patient developed CIL-F-associated temporomandibular joint ankylosis, manifesting as progressive restricted mouth opening along with temporal facial pain. In this CIL-F patient, a TMJ reconstruction with an alloplastic total joint prosthesis was successfully performed with optimal maximal mouth opening, complete alleviation of temporal facial pain, and stable dental occlusion one year postoperatively. A TMJ reconstruction with a complete alloplastic total joint prosthesis proved to be a predictable, stable, and safe treatment option in a patient with CIL-F-associated TMJ ankylosis who was previously treated with condylectomy due to progressive mandibular asymmetry.
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  • 文章类型: Case Reports
    面部增生(HH)是一种罕见的先天性疾病,涉及面部一个或多个组织的增大。治疗在手术上具有挑战性,需要专业知识。本手稿旨在报告两种相似的HH,但需要不同的手术治疗。一名19岁的女性和一名14岁的男孩自出生以来就出现了右面部不对称,并寻求纠正。已计划手术治疗。根据临床病史,诊断和成像,HH被诊断。第一例完全是软组织异常,接受了减积治疗,而第二例涉及面部骨骼,需要手术整形。解决了面部不对称问题。愈合是平静的。尽管两例HH的美学关注和外观相同,治疗大不相同。这是基于不对称的来源。正确的诊断和明智的决定是成功手术结果的关键。
    Hemifacial hyperplasia (HH) is a rare congenital condition involving enlargement of one or more tissues of the face. The treatment is surgically challenging and requires expertise. This manuscript aims to report two similar appearing HH but warranting different surgical treatment. A 19-year-old female and a 14-year-old boy presented with right facial asymmetry since birth and sought correction of the same. Surgical treatment was planned. Based on clinical history, diagnosis and imaging, HH was diagnosed. The first case was entirely a soft tissue abnormality that was treated with debulking while the second case had involvement of facial bones, necessitating surgical recontouring. The facial asymmetry was addressed. Healing was uneventful. Though the aesthetical concern and appearance of the two cases of HH were same, the treatment vastly differed. This was based on the source of asymmetry. Proper diagnosis and informed decision are a key for successful surgical outcome.
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  • 文章类型: Case Reports
    Congenital infiltrating lipomatosis of the face (CIL-F) is characterized by unilateral diffuse infiltration of facial soft tissue by mature adipose cells with associated skeletal hypertrophy. The disease is also considered a subtype of partial hemifacial hyperplasia. We present a case of right hemifacial swelling with severely restricted mouth opening diagnosed with CIL-F associated with temporomandibular joint ankylosis which is very rare, and very few case reports of the same have been published. Computed tomography findings have been discussed in detail with review of literature.
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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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  • 文章类型: Case Reports
    半颜面增生(HFH)的特征是面部一半的所有受影响组织的体积增加。它在出生时就存在,随后按比例增长,并在成年前停止生长。单侧髁突增生(UCH)由下颌骨的进行性不对称生长组成,通常在成年早期发展。这两种疾病的病因未知。局限于一个身体部位的过度生长表明体细胞镶嵌,正如在其他类似的局部过度生长障碍中发现的那样。通常,这包括(PIK3CA)/PI3K/(PTEN)/AKT1/mTOR途径中的基因中的变体。在这里,我们报告了一名出生时出现不对称的HFH患者的病例,随后出现了类似于UCH的渐进增长模式,导致明显的下颌不对称。成功地进行了髁切除术以停止进行性生长。在髁突组织中检测到PIK3CA突变的体细胞镶嵌。这一发现可能表明HFH和UCH都可能是由(PIK3CA)/PI3K/(PTEN)/AKT1/mTOR通路中的基因变异引起的。与其他导致不对称身体过度生长的疾病相似。
    Hemifacial hyperplasia (HFH) is characterized by an increase in volume of all affected tissues of half of the face. It is present at birth, subsequently grows proportionally, and stops growing before adulthood. Unilateral condylar hyperplasia (UCH) consists of progressive asymmetric growth of the mandible and develops typically in early adulthood. Both disorders have an unknown aetiology. The overgrowth limited to one body part suggests somatic mosaicism, as this has been found in other similar localized overgrowth disorders. Often this includes a variant in a gene in the (PIK3CA)/PI3K/(PTEN)/AKT1/mTOR pathway. Here we report the case of an HFH patient with asymmetry present at birth, in whom a progressive growth pattern similar to UCH subsequently occurred, causing marked mandibular asymmetry. A condylectomy was successfully performed to stop the progressive growth. Somatic mosaicism for a mutation in PIK3CA was detected in the condylar tissue. This finding might indicate that both HFH and UCH can be caused by variants in genes in the (PIK3CA)/PI3K/(PTEN)/AKT1/mTOR pathway, similar to other disorders that result in asymmetrical bodily overgrowth.
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  • 文章类型: Case Reports
    Hemifacial hyperplasia is a rare developmental anomaly exhibiting asymmetric growth of one or more body parts. It is characterized by hyperplasia of tissues rather than a hypertrophy, so it is better to call it hyperplasia rather than hypertrophy. Hemifacial hyperplasia may be associated with deformities of the skeletal system, including macrodactyly, polydactyly, syndactyly, scoliosis, tilting of the pelvis, and clubfoot. Though the etiology is unknown, various factors have been described. To date, very few cases have been reported thus far, according to the data we have collected. Through literature search, hemifacial hyperplasia was often implicated on the right side compared to the left. In contrast, we describe a case of hemifacial hyperplasia on the left side of the face in this report. This is a rare presentation for the condition which is detailed in this case report of hemifacial hyperplasia in a 50-year-old female who presented with unilateral facial enlargement since birth.
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  • 文章类型: Case Reports
    Congenital infiltrating lipomatosis of the face (CILF) is a rare lipomatous lesion, commonly seen in childhood, and it is characterized by collections of mature, unencapsulated adipose tissues that infiltrate facial soft and hard tissues. The lesion is seen as an overgrowth of bone and soft tissue and is generally present clinically as slow-growing painless masses. In this case report, we described one case of CILF, which is one of the first cases reported in Ghana and Africa as a whole, along with a literature review on the diagnosis and current treatment strategies.
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  • 文章类型: Case Reports
    Hemifacial hyperplasia is a rare developmental anomaly characterized by marked unilateral facial tissues. It involves orofacial soft tissues, bones of the face, and teeth. The cause remains ambiguous although several predisposing factors have been reported. A case report of a 32-year-old girl with unilateral hemifacial enlargement, pain in temporomandibular joint, and limited mouth opening associated is presented to highlight the clinical and imaging findings and to discuss the differential diagnosis.
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  • 文章类型: Case Reports
    Hemifacial hypertrophy is a rare developmental disorder, characterized by unilateral enlargement of facial tissues. The hemifacial hyperplasia is classified as true hemifacial hypertrophy and partial hemifacial hypertrophy. It is unilateral enlargement of viscerocranial condition in which not all structures are enlarged. We present a rare case of gingival enlargement in partial hemifacial hyperplasia highlighting the clinical and radiological findings with the corrective treatment offered for gingival enlargement.
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