Rare Congenital Upper Lip Pit.

Area of Science:

• Plastic Surgery
• Genetics
• Pediatric Medicine

Background:

• Congenital lip pits are congenital malformations of the lips, presenting as sinuses or fistulas.
• While often associated with Van der Woude syndrome (VWS), they can occur in isolation.
• Upper lateral lip pits are notably rarer than lower or paramedian lip pits.

Purpose of the Study:

• To report a case of a rare upper lateral congenital lip pit in a child.
• To highlight the importance of considering Van der Woude syndrome in cases of isolated lip pits.
• To discuss the surgical management and genetic implications of congenital lip pits.

Main Methods:

• Case presentation of a 6-year-old girl with a congenital lip pit.
• Surgical excision of the lip pit using vertical wedge resection.
• Pathological confirmation of the lip pit.

Main Results:

• Successful surgical excision of the congenital lip pit with good healing.
• Absence of other phenotypic or cognitive abnormalities in the patient.
• Referral to genetics for further evaluation of potential Van der Woude syndrome.

Conclusions:

• Congenital lip pits, especially rare upper lateral variants, warrant genetic evaluation for Van der Woude syndrome, even in the absence of other findings.
• Genetic testing for IRF6 and GRHL3 mutations should be considered.
• Tissue-preserving surgical techniques are recommended to prevent complications like whistle-lip deformity.