Malformação rara do pescoço caracterizada por um defeito cutâneo congénito, vertical, atrófico e geralmente eritematoso de comprimento variável, sem elementos anexiais e localizado ao longo da linha média da parte anterior do pescoço. Apresenta-se tipicamente com uma marca cutânea superior, um cordão fibroso subcutâneo na linha média que é frequentemente mais comprido do que o defeito cutâneo sobrejacente e um seio cego inferior a partir do qual se pode expulsar muco. O comprimento do defeito aumenta com a idade dos doentes. Da mesma forma, o cordão fibroso torna-se mais proeminente com a idade, levando potencialmente a limitação da extensão do pescoço se a malformação não for tratada. Outras complicações possíveis incluem microgenia, exostose, torcicolo ou infeção.
Introdução
O que você precisa saber de cara
Malformação rara do pescoço caracterizada por um defeito cutâneo congênito, vertical, atrófico e geralmente eritematoso de comprimento variável, sem elementos anexiais e localizado ao longo da linha média da parte anterior do pescoço. Apresenta-se tipicamente com uma marca demonstra superior, um cordão fibroso subcutâneo na linha média que é frequentemente mais comprido do que o defeito cutâneo sobrejacente e um seio cego inferior a partir do qual se pode expulsar muco. O comprimento do defeito aumenta com a idade dos pacientes. Da mesma forma, o cordão fibroso torna-se mais proeminente com a idade, levando possivelmente a limitações da extensão do pescoço se a malformação não for tratada. Outras complicações possíveis incluem microgenia, exostose, torcicolo ou infecção.
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Genética e causas
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🇧🇷 Atendimento SUS — Fenda cervical da linha-média
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A Novel Surgical Technique for Management of Congenital Midline Cervical Clefts: Case Series.
Congenital midline cervical cleft (CMCC) is a rare defect of the midline neck which is often misdiagnosed. The aim of this study is to show the efficacy and safety of a novel surgical technique for CMCC to get excellent aesthetic and functional results. We report a series of four cases, two female and two male patients, affected by midline cervical cleft who underwent surgical excision and primary reconstruction of the neck defect through a double opposing Z-plasty, at the Pediatric Plastic and Maxillo-Facial Surgery Unit of a third-level referral hospital in Rome. No complications nor recurrences were noted; cosmetic results were satisfactory in all cases with progressive scar improvement. Early and complete surgical excision is essential to ensure good aesthetical results. The double opposing Z-plasty closure allowed us to obtain an excellent functional outcome and reduce cervical contracture.
Z-Plasty technique in congenital midline cervical cleft; a rare case report & literature review.
Congenital midline cervical cleft (CMCC) is a rare developmental anomaly of the anterior neck, often misdiagnosed due to its similarity to other cervical malformations. It results from impaired midline fusion of the branchial arches, leading to a linear skin defect with a fibrotic cord and, in some cases, a sinus tract. Left untreated, CMCC can cause progressive contracture, restricted neck mobility, and aesthetic deformities. This review examines the embryological basis, clinical presentation, histopathological characteristics, differential diagnosis, and surgical management of CMCC, with a focus on Z-plasty as the preferred reconstructive technique. Z-plasty effectively lengthens the scar, prevents recurrent contracture, and restores normal neck contour. In addition, we present a case of a 3-day-old female neonate with CMCC, successfully treated with Z-plasty reconstruction, reinforcing the importance of early intervention. Emerging genetic research suggests a potential hereditary component in CMCC, warranting further investigation into its molecular underpinnings. Advances in regenerative medicine and surgical innovation may improve treatment outcomes, offering new possibilities for personalized management of congenital cervical anomalies.
Midline Cervical Cleft: Case Report and Current Understanding.
Congenital midline cervical cleft (CMCC) is an extraordinarily rare midline lesion that is present at birth. The lesion can cause micrognathia and cervical contracture via underlying traction on the mandible. It is essential to recognize the condition and excise the lesion within 1 year of diagnosis to mitigate long term cosmetic and functional problems. We report a 10-month-old male infant with CMCC diagnosed immediately after birth. Ultrasound with color doppler imaging confirmed the anatomic characteristics of the lesion. The lesion was surgically excised and closed in layers, with no postoperative complications and good functional and cosmetic results. The pathognomonic presentation, etiology, differential diagnosis, and optimal surgical approach are also discussed.
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Congenital midline cervical cleft is a rare anomaly classified as a malformation of the branchial arches and represents less than 2% of congenital cervical malformations. Its clinical presentation involves cervical midline deformities: cephalic nodular lesion, linear groove with atrophic surface, and/or caudal sinus. Other midline alterations of variable complexity may also be present. Early treatment allows for avoiding long-term complications. Based on our experience in four clinical cases, a performed literature search on the topic in the last twenty years, and subsequent discussion of the employed surgical approaches, we included 150 reported cases in our review. Correct diagnosis and early treatment with complete removal of the fibrous midline band is paramount to avoid patient complaints until adolescence or adulthood.
[Modified Z-plasty repair for congenital midline cervical cleft in a child].
本文报道河南省儿童医院收治的1例利用改良“Z”形皮瓣转移修复先天性颈部正中裂的病例。患儿为1岁6个月男童,因“自幼发现颈正中部皮肤缺损伴瘘管”来我院治疗,入院后完善颈部彩超、颈部MRI并结合体格检查结果,诊断为先天性颈部正中裂,于全麻下行电子支气管镜下喉气管探查术+颈部正中裂切除术+改良“Z”形皮瓣转移修复术。术后随访10个月,患儿恢复好,颈部无挛缩、运动无受限,瘢痕恢复中。.
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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.
- A Novel Surgical Technique for Management of Congenital Midline Cervical Clefts: Case Series.
- Z-Plasty technique in congenital midline cervical cleft; a rare case report & literature review.
- Midline Cervical Cleft: Case Report and Current Understanding.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association· 2025· PMID 39403013mais citado
- Congenital midline cervical cleft: Management of a case series and literature review.
- [Modified Z-plasty repair for congenital midline cervical cleft in a child].Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery· 2024· PMID 38622022mais citado
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:141288(Orphanet)
- MONDO:0015419(MONDO)
- GARD:19971(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q6842567(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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