Treatment of lower lip pits in Van der Woude syndrome: a systematic review

Peralta-Mamani, Mariela; Terrero-Pérez, Ángel; Dalben, Gisele da Silva; Rubira, Cássia Maria Fischer; Honório, H.M.; Rubira-Bullen, I.F.

doi:10.1016/j.ijom.2017.10.002

Cited by 10 publications

(4 citation statements)

References 25 publications

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“…Rizos and Spyropoulos [ 4 ] reported that a sinus tract could extend up to 2.5 cm to the sulcus labialis. Peralta-Mamani et al [ 8 ] recently published a systematic review of the treatment of LLP in VWS, and found that the use of a vertical wedge excision and inverted-T lip reduction showed better results than simple excision. Simple excision may result in postoperative complications, such as mucocele and pit recurrence [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

Lower lip pits with sinus tracts in Van der Woude syndrome: a case report and review of the literature

2022

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In Van der Woude syndrome (VWS), a rare congenital disease, lower lip pits (LLPs) can cause an aesthetically significant deformity. Surgical treatment of LLPs is necessary if they cause recurrent inflammation or aesthetic problems. Intraoperatively, surgeons should keep in mind the possibility of deep extension of the sinus tract and the relative deficiency of the midline in VWS, which increases the risk of lip disfigurement. Herein, we emphasize the importance of using a tissue-preserving technique to improve aesthetic results in VWS patients with a sinus tract.

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Section: Discussionmentioning

confidence: 99%

Lower lip pits with sinus tracts in Van der Woude syndrome: a case report and review of the literature

2022

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“…Lip pits are the most distinctive trait of this syndrome [3], [10] seen in 88% of the cases, and can be isolated in many cases (64%) [5].…”

Section: Discussionmentioning

confidence: 99%

“…Surgical treatment can be proposed for correcting the aesthetic deformity when it is causing emotional or social discomfort [1], [3], [9] or in case of recurrent inflammation or infection [10].…”

Section: Discussionmentioning

confidence: 99%

Congenital Lower Lip Pits: A Familial Case of Van der Woude Syndrome

Karti

Chfiri

Jalal

et al. 2022

EJMED

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Van der Woude syndrome or lip pits syndrome is a rare genetic autosomal dominant affection that represents the first cause of syndromic cleft lip and palate. Lower lip pits associated or not with cleft lip or palate is characteristic in this syndrome. The treatment of lip pits is surgical and can be very challenging since aesthetic good results can be hard to achieve We report a familial case of Van der Woude syndrome with lip pits as the only manifestation.

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“…Unlike non-syndromic CL and CP, individuals with VWS exhibit bilateral and paramedian lower-lip fistulae, or occasionally, small mounds with a sinus tract deriving from a mucous gland of the lip ( 30 ). Moreover, hypodontia affecting maxillary incisors, canines and premolars also occurs in patients with VWS (15.5–86%), together with other dental anomalies that may cause malocclusions ( 31 ). IRF6 gene mutations are commonly found in individuals with VWS ( 32 ).…”

Section: Discussionmentioning

confidence: 99%

A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family

Yang

Dong

et al. 2020

Mol Med Rep

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Previous studies have suggested that pathogenic variants in interferon regulatoryse factor 6 (irF6) can account for almost 70% of familial Van der Woude Syndrome (VWS) cases. However, gene modifiers that account for the phenotypic variability of irF6 in the context of VWS remain poorly characterized. The aim of this study was to report a family with VWS with variable expressivity and to identify the genetic cause. a 4-month-old boy initially presented with cleft palate and bilateral lower lip pits. Examination of his family history identified similar, albeit milder, clinical features in another four family members, including bilateral lower lip pits and/or hypodontia. Peripheral blood samples of eight members in this three-generation family were subsequently collected, and whole-exome sequencing was performed to detect pathogenic variants. a heterozygous missense IRF6 variant with a c.1198c>T change in exon 9 (resulting in an r400W change at the amino acid level) was detected in five affected subjects, but not in the other three unaffected subjects. Moreover, subsequent structural analysis was indicative of damaged stability to the structure in the mutant irF protein. Whole-transcriptome sequencing, expression analysis and Gene ontology enrichment analysis were conducted on two groups of patients with phenotypic diversity from the same family. These analyses identified significant differentially expressed genes and enriched pathways in these two groups. Altogether, these findings provide insight into the mechanism underlying the variable expressivity of VWS.

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Treatment of lower lip pits in Van der Woude syndrome: a systematic review

Cited by 10 publications

References 25 publications

Lower lip pits with sinus tracts in Van der Woude syndrome: a case report and review of the literature

Lower lip pits with sinus tracts in Van der Woude syndrome: a case report and review of the literature

Congenital Lower Lip Pits: A Familial Case of Van der Woude Syndrome

A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family

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