Congenital Lip Pits and Van der Woude Syndrome

Ziai, Mandana N; Benson, Aaron G.; Djalilian, Hamid R.

doi:10.1097/01.scs.0000164335.27171.b1

Cited by 37 publications

(32 citation statements)

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“…The lower lip is often enlarged, and the size of the pits is variable 19 . Other abnormalities may be present, including cleft palate, cleft lip, genitourinary malformations, cardiovascular anomalies, skeletal dysplasias, and gastrointestinal abnormalities 20–23 …”

Section: Congenital Disordersmentioning

confidence: 99%

Unusual and recently described cutaneous atrophic disorders

et al. 2011

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Cutaneous atrophic conditions are typically caused by changes in the dermis or subcutaneous tissue, sometimes consisting of the loss of a single fiber type. Since a significant decrease of subepidermal tissue is necessary for these lesions to be macroscopically atrophic, many conditions may not be appreciated as atrophy in the clinical setting. Clinicians should be familiar with the common or classic disorders causing cutaneous atrophy; however, there are a few new or rarely described atrophic conditions which are more difficult to identify and may not be atrophic clinically. This paper serves to describe the salient clinical and histological features of these new or rare disorders.

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Section: Congenital Disordersmentioning

confidence: 99%

Unusual and recently described cutaneous atrophic disorders

et al. 2011

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“…[12] However, this is in contrast with earlier studies, which found no discernible difference in gender distribution of affected individuals. [1] The lip pits in VWS has been reported to be mostly bilateral and symmetrically placed on each side of the midline [1,5,13] and may sometimes be the only manifestation of this syndrome as seen in the mother of one of the presented case. All patients with lip pits in this series presented with bilateral paramedian sinuses of the lower lip, placed symmetrically on either side of the midline.…”

Section: Discussionmentioning

confidence: 99%

“…Bilateral pits can also be unilaterally, medially or bilaterally asymmetrical. [13] A single median or paramedian pit has also been reported and is considered as an incomplete expression of the trait. [13] None of our patients in this series presented with unilateral lip pit.…”

Section: Discussionmentioning

confidence: 99%

Van der Woude syndrome: A review of 11 cases seen at the Lagos University Teaching Hospital

James¹,

Adeyemo²,

Emeka³

et al. 2014

Afr J Paediatr Surg

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Background Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor six gene. It is reported to be the most common syndromic cleft worldwide. Non-penetrance for the lip pit phenotype is found in at least 10% of affected individuals and those without the pits are phenocopies for non-syndromic clefting. The aim of this study is to present the phenotypic characteristic of VWS seen at the Lagos University Teaching Hospital (LUTH) cleft clinic. Materials and Methods A review of cases of patients with VWS that attended the cleft lip and palate clinic at the LUTH Idi-Araba, Lagos, from January 2007 to December 2012 was conducted. Data analyses included sex of affected patients, types of cleft, presence of lower lip pits and history of lower lip pits/cleft in the family. Results A total of 11 cases were seen during the period (male = 4; female = 7). Age at presentation ranged between 1 week and 12 years, with majority (n = 10) less than 2 years of age. Bilateral cleft lip and palate (BCLP) was seen in six patients, isolated soft palatal cleft (n = 3) and unilateral cleft lip and alveolus (n = 1) and cleft of hard and soft palate (n = 1). Bilateral lower lips were presented in 10 out of the 11 cases. The mother of the only patient without lip pits presented with bilateral lower lip pits. No family history of cleft/lip pits was elicited in 10 other cases. Conclusion Most of the cases of VWS presented with BCLP and lower lip pits. Non-penetrance for the lip pits was seen in one out of 11 cases. Our study emphasizes the need to screen family members in all cleft cases, especially clinically diagnosed non-syndromic cases who may be VWS with no lip pits. Future studies are required to investigate the genetic causes of this syndrome in our population.

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“…To date, < 15 reports of patients with ‘isolated’ lower lip pits have been published to date, and the pits are often mistaken for depressions caused by the maxillary incisors . It is suspected that there is a disruption in the fusion of the mandibular arch and lateral sulcus of the lower lip, which results in the formation of the pits .…”

mentioning

confidence: 99%