A hiperplasia hemifacial é uma anomalia morfológica rara da região maxilofacial caracterizada pelo crescimento excessivo unilateral de todas as estruturas faciais (ossos, tecidos moles, dentes), chamada hipertrofia hemifacial verdadeira, ou crescimento excessivo de uma ou mais, mas não de todas as estruturas faciais, chamada hipertrofia hemifacial parcial. Pode ser isolada ou relacionada a algumas síndromes (por exemplo, síndrome de Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, síndrome de McCune-Albright, Neurofibromatose tipo 1). Pode estar associada a obstrução das vias aéreas, perda auditiva neurossensorial ou dificuldades de deglutição.
Introdução
O que você precisa saber de cara
A hiperplasia hemifacial é uma anomalia morfológica rara da região maxilofacial caracterizada pelo crescimento excessivo unilateral de todas as estruturas faciais (ossos, tecidos moles, dentes), chamada hipertrofia hemifacial verdadeira, ou crescimento excessivo de uma ou mais, mas não de todas as estruturas faciais, chamada hipertrofia hemifacial parcial. Pode ser isolada ou relacionada a algumas síndromes (por exemplo, síndrome de Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, síndrome de McCune-Albright, Neurofibromatose tipo 1). Pode estar associada a obstrução das vias aéreas, perda auditiva neurossensorial ou dificuldades de deglutição.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Genética e causas
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
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Publicações mais relevantes
Radiologic Aspects of Segmental Odontomaxillary Dysplasia: A Case Report.
Segmental odontomaxillary dysplasia (SOD) is a rare nonheritable unilateral developmental disorder characterized by dental, bone, and soft tissue abnormalities. A 13-year-old female patient presented with mild facial asymmetry. Clinical examination revealed right maxillary enlargement and gingival overgrowth. Radiologic examination revealed retention of primary teeth showing pulp chamber obliteration and irregular root resorption, agenesis of the second premolar, impaction of the first premolar, bone enlargement, and increased trabecular bone density with vertically oriented trabeculae. The combined imaging findings facilitated clear differentiation from common imaging mimickers, such as fibrous dysplasia and hemifacial hyperplasia. Bone histopathological examination revealed irregular bony trabeculae lacking an osteoblastic layer, accompanied by numerous basophilic reversal lines. This case underscores the importance of a multidisciplinary approach, combining clinical, radiologic, and histopathological evaluation in distinguishing SOD from other conditions with overlapping radiologic features.
Congenital hemifacial hyperplasia-A diagnostic dilemma.
CHH is a rare developmental pathology and often presents a diagnostic dilemma to a clinician. It is characterized by marked unilateral overgrowth of hard and soft tissues of the face that is present since birth and advances with age, mostly till puberty. Though aetiology remains unknown, several factors could be considered including hormonal imbalances, diseases involving the neural system, vascular conditions, lymphatic abnormalities, mechanical influences and congenital syphilis. Hence, desired investigations should be done to rule out syndromes causing facial asymmetry. Since, management is considered when aesthetics are a prime concern, it should be planned only after growth cessation. We, hereby, present a case of 10-year-old male patient reported with chief complaint of asymmetry on left side of face from birth to supplement existing clinical knowledge.
Multidisciplinary approach to occlusal rehabilitation in a patient with true hemifacial hyperplasia and temporomandibular joint ankylosis: a case report.
This case report details a true hemifacial hyperplasia with temporomandibular joint ankylosis case managed through a multidisciplinary approach involving department of oral and maxillofacial surgery, orthodontics, and prosthodontics. A 42-year-old female patient presented with a chief complaint of limited mouth opening. Clinically, the patient exhibited severe facial asymmetry due to hyperplasia of the left facial region. Cone-beam computed tomography findings revealed overgrowth of the left mandible, zygomatic bone, and maxillary bone including alveolar bone, along with bony ankylosis of the temporomandibular joint. To alleviate the restricted mouth opening, gap arthroplasty was initially performed. Additionally, alveoloplasty was carried out to address occlusal interference caused by the overgrown alveolar bone. Orthodontic treatment was conducted to reduce mandibular molar width and achieve proper overjet. For reconstruction of the left side occlusion, dental implants were placed using an implant surgical guide, followed by prosthetic rehabilitation. Total treatment duration was 48 months, resulting in stabilization of the patient's occlusion. By setting feasible goals through consultations among specialists from each department, based on three-dimensional simulations, successful and efficient occlusal rehabilitation can be achieved in a true hemifacial hyperplasia patient.
Temporomandibular Joint Prosthesis in a Patient with Congenital Infiltrating Lipomatosis of the Face with Bony Ankylosis of the Temporomandibular Joint: A Case Report.
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.
Hemifacial hypertrophy - Report of 2 cases.
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.
Publicações recentes
Radiologic Aspects of Segmental Odontomaxillary Dysplasia: A Case Report.
Congenital hemifacial hyperplasia-A diagnostic dilemma.
Multidisciplinary approach to occlusal rehabilitation in a patient with true hemifacial hyperplasia and temporomandibular joint ankylosis: a case report.
Temporomandibular Joint Prosthesis in a Patient with Congenital Infiltrating Lipomatosis of the Face with Bony Ankylosis of the Temporomandibular Joint: A Case Report.
Hemifacial hypertrophy - Report of 2 cases.
📚 EuropePMC31 artigos no totalmostrando 18
Radiologic Aspects of Segmental Odontomaxillary Dysplasia: A Case Report.
Case reports in dentistryCongenital hemifacial hyperplasia-A diagnostic dilemma.
National journal of maxillofacial surgeryMultidisciplinary approach to occlusal rehabilitation in a patient with true hemifacial hyperplasia and temporomandibular joint ankylosis: a case report.
BMC oral healthTemporomandibular Joint Prosthesis in a Patient with Congenital Infiltrating Lipomatosis of the Face with Bony Ankylosis of the Temporomandibular Joint: A Case Report.
Journal of clinical medicineHemifacial hypertrophy - Report of 2 cases.
Indian journal of dental research : official publication of Indian Society for Dental ResearchFacial infiltrating lipomatosis, a rare cause of facial asymmetry to be known: Case report and literature review.
Annals of medicine and surgery (2012)Congenital infiltrating lipomatosis of the face with temporomandibular joint ankylosis.
National journal of maxillofacial surgeryHemifacial hyperplasia: a case series and review of the literature.
International journal of oral and maxillofacial surgeryUnilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?
International journal of oral and maxillofacial surgeryCongenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia.
International journal of pediatric otorhinolaryngologyCongenital infiltrating lipomatosis of the face with hyperplastic mandibular, maxillary and pterygoid bones: case report and a review of literature.
International medical case reports journalCongenital hemifacial hyperplasia.
Medicina clinicaCongenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review.
Case reports in dentistryPhenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy.
Handbook of clinical neurologyMissense mutation in the PTEN promoter of a patient with hemifacial hyperplasia.
BoneKEy reportsCongenital infiltrating lipomatosis of face: case report and review of literature.
Journal of the Indian Society of Pedodontics and Preventive DentistryComputer-assisted planning and navigation for the treatment of true hemifacial hyperplasia.
The Journal of craniofacial surgeryGingival enlargement in partial hemifacial hyperplasia.
Journal of Indian Society of PeriodontologyAssociações
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Referências e fontes
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Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Radiologic Aspects of Segmental Odontomaxillary Dysplasia: A Case Report.
- Congenital hemifacial hyperplasia-A diagnostic dilemma.
- Multidisciplinary approach to occlusal rehabilitation in a patient with true hemifacial hyperplasia and temporomandibular joint ankylosis: a case report.
- Temporomandibular Joint Prosthesis in a Patient with Congenital Infiltrating Lipomatosis of the Face with Bony Ankylosis of the Temporomandibular Joint: A Case Report.
- Hemifacial hypertrophy - Report of 2 cases.Indian journal of dental research : official publication of Indian Society for Dental Research· 2022· PMID 36656200mais citado
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:141145(Orphanet)
- OMIM OMIM:133900(OMIM)
- MONDO:0007590(MONDO)
- GARD:16971(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q17121807(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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