Ectropion

CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in next-generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome albeit only recently. In this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants from nine families presenting with craniofacial dysmorphisms including cleft palate and hypodontia, as well as congenital cardiac anomalies, limb dysmorphologies and neurodevelopmental disorders. Using conditional deletions in mice as well as CRISPR/Cas9 approaches to target CTNND1 in Xenopus, we identified a subset of phenotypes that can be linked to p120-catenin in epithelial integrity and turnover, and additional phenotypes that suggest mesenchymal roles of CTNND1. We propose that CTNND1 variants have a wider developmental role than previously described and that variations in this gene underlie not only cleft palate and BCD but may be expanded to a broader velocardiofacial-like syndrome.

IntroductionVarious surgical procedures are available to correct paralytic ectropion, which are applied in irreversible facial paresis. Problems occur when facial paresis has an unclear prognosis, since surgery of the lower eyelid is usually irreversible. We propose a simple method to correct temporary ectropion in facial palsy by applying an adhesive strip.Patients and methodsTen patients with peripheral facial paresis and paralytic ectropion were treated with an adhesive strip to correct paralytic ectropion. We used "Steri-Strips" (45 x 6.0 mm), which were taped on the carefully cleaned skin of the lower eyelid and of the adjacent zygomatic region until the prognosis of the paresis was clarified. In addition to the examiner's evaluation of the lower lacrimal point in the lacrimal lake, subjective improvement of the symptoms was assessed using a visual analogue scale (VAS, 1-10).Results9 patients reported a clear improvement of the symptoms after adhesive taping. There was a clear regression of tearing (VAS (median) = 8; 1 = no improvement, 10 = very good improvement), the cosmetic impairment of the adhesive tape was low (VAS (median) = 2.5; 1 = no impairment, 10 = severe impairment) and most of the patients found the use of the adhesive strip helpful. There was slight reddening of the skin in one case and well tolerated by the facial skin in the other cases.ConclusionThe cause and location of facial nerve damage are decisive for the type of surgical therapy. In potentially reversible facial paresis, procedures should be used that are easily performed and above all reversible without complications. Until a reliable prognosis of the paresis can be made, adhesive taping is suited for the temporary treatment of paralytic ectropion. Adhesive taping is simple and can be performed by the patient.

ObjectiveTo evaluate the efficacy and complications of a novel surgical technique for cicatricial lower lid ectropion that uses a vertical-to-horizontal (V-to-H) rotational myocutaneous flap procedure (Tsai procedure).MethodsWe performed the V-to-H rotational myocutaneous flap procedure on 20 eyelids in 20 patients with mild to moderate cicatricial lower lid ectropion. A vertical myocutaneous flap was created from the anterior lamella of the vertical pedicle in the lateral third of the lower eyelid. Following a horizontal relaxing incision from the base of the flap, a vertical myocutaneous flap was created and rotated to horizontal. Two patients with combined cicatricial ectropion and paralytic lagophthalmos simultaneously underwent additional lateral tarsorrhaphy.ResultsAfter a minimum follow-up period of 6 months, all patients showed good anatomical and functional improvement with decreased dependence on topical lubricants and a satisfactory cosmetic appearance. Two patients with combined cicatricial and paralytic ectropion had mild residual asymptomatic lagophthalmos. No patients required further revision surgery and there were no complications or recurrence.ConclusionThe V-to-H rotational myocutaneous flap technique was an effective and simple one-stage procedure for correcting cicatricial lower lid ectropion. It lengthened the anterior lamella and tightened horizontal eyelid laxity without the need for a free skin graft.

BackgroundCervical ectropion is a common anatomical condition in women of reproductive age. Although often considered a physiological variant, its potential role as a factor associated with epithelial alterations remains under debate. Exposure of immature columnar epithelium in the transformation zone may facilitate the persistence of human papillomavirus (HPV) and other infectious agents.MethodsWe conducted an analytical case-control study (1:2 ratio) at a referral hospital in Ica, Peru. Cases were women with histologically confirmed high-grade cervical dysplasia (CIN2-3), while controls had consecutive negative cytology results (NILM). Cervical ectropion was assessed by standardized colposcopy. Hierarchical multivariate logistic regression was used to adjust for demographic, behavioral, and infectious factors.ResultsA total of 276 women were included (92 cases and 184 controls). Cervical ectropion was observed in 33.0% of cases and in 10.3% of controls (p ConclusionsCervical ectropion was significantly associated with high-grade cervical dysplasia after adjustment for measured covariates and may constitute a potential clinical marker of epithelial vulnerability. However, residual confounding related to unmeasured HPV infection cannot be excluded. These findings support the importance of systematic screening and colposcopic surveillance, particularly in resource-limited settings where molecular HPV testing is not widely available.