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Cistos e fístulas orofaciais
ORPHA:155835DOENÇA RARA

Doença otorrinolaringológica caracterizada por crescimentos ou passagens anormais nos tecidos da boca, mandíbula e áreas adjacentes.

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Introdução

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Doença otorrinolaringológica caracterizada por crescimentos ou passagens anormais nos tecidos da boca, mandíbula e áreas adjacentes.

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Características mais comuns

Morfologia anormal do pescoço
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Os sintomas variam de pessoa para pessoa. Abaixo estão as 1 características clínicas mais associadas, ordenadas por frequência.

Morfologia anormal do pescoçoAbnormality of the neck

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Anos de pesquisa10
Últimos 10 anos10publicações
Pico20202 papers
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20202016Hoje · 2026📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Transoral Submandibular Excision of Thyroglossal Cysts: A New Approach Model.

The Laryngoscope2026 Apr

Thyroglossal duct cyst (TGDC) or fistula is a prevalent congenital mass in the neck region. The objective of this study was to introduce a transoral submandibular surgical technique that has not been previously described in the literature. This technique was compared to the classic Sistrunk procedure and the vestibular approach, which is preferred in endoscope-robot-assisted methods. The present study encompasses a cohort of 12 patients diagnosed with TGDC between 2011 and 2022, who underwent surgical intervention utilizing the transoral submandibular approach technique. The transoral submandibular technique is described in detail and compared with the classical transcervical technique and other transoral approach techniques. These comparisons are discussed in the light of current literature. The total number of patients included in the study was 12, with ages ranging from 4 to 17 years. The duration of symptoms ranged from 6 to 120 months. The surgical duration ranged from 80 to 180 min, with an average of 102 ± 14.5 min. No intraoperative complications were observed in any of the patients. The development of minimally invasive techniques has emerged as a response to the external incision scar problem associated with the Sistrunk procedure, the prevailing treatment for TGDC. These techniques hold considerable promise, yet the optimal technique remains elusive. It is hypothesized that the transoral submandibular approach for thyroglossal duct cyst excision will make a positive contribution to the literature in this context.

#2

[Comparison between transoral minimally invasive surgery and Sistrunk surgery for the treatment of lingual thyroglossal duct cyst].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery2025 Apr 07

Objective: To evaluate the feasibility and efficacy of transoral minimally invasive surgery for the treatment of lingual thyroglossal duct cyst(LTGDC) by comparison with Sistrunk surgery. Methods: The clinical data of 34 patients with LTGDC were analyzed retrospectively at the First Affiliated Hospital of Zhengzhou University from March 2019 to August 2023. Among these patients, comprising 26 males, 8 females, aged from 1 year and 11 months to 76 years old, with a mean age of 31 years old, 22 patients underwent transoral minimally invasive surgery and 12 patients underwent Sistrunk surgery. The operation time, intraoperative blood loss volume, recovery time and follow-up information of the two groups were analyzed. The follow-up period ranged from 12 to 65 months. An independent sample t-test was used to analyze the surgical duration between the two groups, while the Mann-Whitney U test was employed to analyze data on age, cyst size, intraoperative blood loss, and length of hospital stay between the two groups. Results: There were no significant differences in gender, age and size of the cysts between the two groups(all P>0.05). For the transoral minimally invasive group, the mean operation time was (75.5±20.2) minutes, median intraoperative blood loss volume was 5.0(5.0, 10.0)ml and median recovery time was 9.0(8.0, 10.0)days. The data of Sistrunk group were (131.7±16.8) min, 27.5(20.0, 40.0)ml, 11.0(10.0, 15.0)days respectively. There was a statistically significant difference between the two groups(Z=-8.192, -4.539, -3.71, all P<0.001). In the transoral group, there were three recurrences, two patients subsequently underwent Sistrunk surgery, while one opted for continuous observation. Additionally, one patient experienced partial loss of epiglottic cartilage.Four patients in the Sistrunk group developed a pharyngeal fistula, but there were no reported recurrences. Conclusions: Compared to Sistrunk surgery, transoral surgery for lingual thyroglossal duct cyst provides several benefits, such as reduced complication rates, accelerated recovery, and the absence of neck scarring. 目的: 探讨经口微创手术与Sistrunk手术治疗舌根型甲状舌管囊肿的疗效和安全性。 方法: 回顾性分析2019年3月至2023年8月郑州大学第一附属医院收治的34例行手术治疗的舌根型甲状舌管囊肿患者的临床资料[男26例,女8例,年龄1岁11个月~76岁(中位年龄31岁)],其中经口微创手术治疗22例(微创组),Sistrunk手术治疗12例(Sistrunk组)。观察2组患者手术时间、术中出血量、住院日及并发症等情况。术后随访时间12~65个月。采用独立样本t检验分析2组的手术时间,用Mann-Whitney U检验分析2组的年龄、囊肿大小、术中出血量及住院日等数据。 结果: 2组患者在性别、年龄、囊肿大小方面差异均无统计学意义(P值均>0.05)。微创组的手术时间、术中出血量、住院日分别为(75.5±20.2)min,5.0(5.0,10.0)ml,9.0(8.0,10.0)d;Sistrunk组的上述指标分别为(131.7±16.8)min、27.5(20.0,40.0)ml、11.0(10.0,15.0)d,2组差异有统计学意义(Z值分别为-8.192、-4.539、-3.71,P值均<0.001)。微创组有1例患者术后出现会厌游离缘软骨部分缺失,3例复发(2例复发后选择Sistrunk手术,1例复发后选择观察);Sistrunk组有4例出现咽瘘,无复发。 结论: 经口微创手术治疗舌根型甲状舌管囊肿对比Sistrunk手术具有并发症少、恢复快、颈部无瘢痕等优势。.

#3

Oral Trichogranuloma in an Asian 12-Year-Old Female With Trichotillomania.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons2024 Jan

Pilonidal sinus is an acquired chronic inflammatory condition associated with the penetration of hair fragments into the skin. In the pathogenesis of most of these cases, a traumatic event initiates the process allowing the introduction of the hairs into the skin. We report an unusual case of acquired pilonidal sinus as a consequence of the unconscious habit of chewing on the hairs in a 12-year-old girl. Although most commonly located in the gluteal cleft, it has been reported in several areas of the body (including face), but to the best of our knowledge, this is the first report in the oral cavity. Our case presented as a palatal and vestibular fistula in a patient who suffered from an undiagnosed peculiar form of hair pulling disorder that involved hair chewing but not trichophagia.

#4

Rare and Multiple Hypodontia in Van der Woude Syndrome: Case Report.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2023 Feb

Van der Woude syndrome (VWS) is a rare syndrome of genetic etiology, commonly occasioned by mutations in the IRF6 gene and that causes disorders in craniofacial development. VWS is characterized by the presence of paramedian fistulas in the lower lip and cleft lip and / or cleft palate. Although some dental phenotypes have been reported in this syndrome, multiple and rare hypodontias were not described. Through this case report, we present a case of Van der Woude Syndrome (VWS) with rare and multiple hypodontia in which clinical data and radiographic exams were evaluated. The patient presented hypodontia of eight permanent teeth (lateral incisors, second premolars and second molars). So, when the dentist recognizes multiple and/or rare hypodontias, for an accurate diagnosis, detailed examination of the lower lip is indicated, as well as a survey of the family history and referral for genetic counseling, since the syndrome presents high penetrance. The patient is expected to be rehabilitated to have a good quality of life. Rehabilitation in these cases requires alveolar bone graft, orthodontics and prosthesis to replace missing teeth.

#5

Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

Clinical dysmorphology2020 Jan

Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of multiplex ligation-dependent probe amplification and chromosomal microarray revealed a 374.070 kb, deletion encompassing the entire IRF6 gene in four affected family members. Microdeletion of the entire IRF6 gene causes the classical VDW syndrome phenotype.

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Transoral Submandibular Excision of Thyroglossal Cysts: A New Approach Model.
    The Laryngoscope· 2026· PMID 41462564mais citado
  2. [Comparison between transoral minimally invasive surgery and Sistrunk surgery for the treatment of lingual thyroglossal duct cyst].
    Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery· 2025· PMID 40262982mais citado
  3. Oral Trichogranuloma in an Asian 12-Year-Old Female With Trichotillomania.
    Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons· 2024· PMID 37898155mais citado
  4. Rare and Multiple Hypodontia in Van der Woude Syndrome: Case Report.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association· 2023· PMID 34787023mais citado
  5. Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.
    Clinical dysmorphology· 2020· PMID 30946036mais citado
  6. Technique for assisting excision of labial fistula in van der Woude syndrome.
    Br J Oral Maxillofac Surg· 2020· PMID 32819747recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:155835(Orphanet)
  2. MONDO:0015476(MONDO)
  3. GARD:19973(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785496(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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Cistos e fístulas orofaciais
Compêndio · Raras BR

Cistos e fístulas orofaciais

ORPHA:155835 · MONDO:0015476
MedGen
UMLS
C5680632
Wikidata
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