Congenital fistulae of the lower lip in Van der Woude syndrome: A histomorphological study

Objective: To evaluate a significant number of cases of fistulae of the lower lip with the light microscope in order to investigate the histological variation and to attempt to define the histopathological pattern of the lesion.Methods: Congenital fistulae of the lower lips of 17 patients with Van der Woude syndrome were analyzed by light microscopy,Results and Conclusion: the walls of most of the fistulae consisted of stratified nonkeratinized squamous epithelium and a lamina propria of dense connective tissue with areas of lymphohistiocytic inflammatory infiltrates. Bundles of striated muscle fibers, blood vessels, nerves, adipose tissue, and mixed acinar glands were observed. These glands surrounded the entire wall of the lesion, and their excretory ducts opened into the lumen of the fistula, explaining the clinical observation of elimination of mucous secretion through the opening of the fistula, Two microform cases of fistula were analyzed that presented only a depression in the epithelium at the site corresponding to the opening of the fistula.

Relationship between lower-lip fistulae and cleft lip and/or palate in Van der Woude syndrome

Objective: This study was conducted to evaluate the relationship between fistulae of the lower lip and cleft lip and/or palate in patients with Van der Woude syndrome.Methods: the medical records of 11,000 patients with cleft lip and/or palate registered at the Cleft Lip-Palate Research and Rehabilitation Hospital, University of São Paulo, Bauru were reviewed. of these patients, 133 (1.2%) presented with Van der Woude syndrome.Results: of the 133 patients, 88 (66.2%) exhibited full clefts, 22 (16.5%) only cleft lip, and 23 (17.3%) only cleft palate. The lower-lip fistulae observed in these 133 patients were bilateral symmetric in 66 (49.7%), bilateral asymmetric in 42 (31.6%), microform in 19 (14.3%), median in 5 (3.8%), and unilateral in 1 (0.7%).Conclusion: This population sample appears to exhibit the previously published tendency for bilateral, unilateral, or mixed-type congenital fistulae to be associated with cleft lip with or without cleft palate, while so-called microforms or conic elevations are almost exclusively associated with cleft palate.

Inverted ductal papilloma of the oral cavity secondary to lower lip trauma. A case report and literature review

Inverted ductal papilloma of the oral cavity is an infrequent benign neoplasm of papillary appearance that originates in the secretory duct of a salivary gland. The etiology is unknown, though some authors have related it to human papillomavirus (HPV) infection. We present the case of a 40-year-old woman with a tumor of the lower lip mucosa. Histopathological study of the lesion diagnosed inverted ductal papilloma of the oral cavity. Human papillomavirus DNA detection and typing based on tumor lesion DNA amplification and posterior hybridization, revealed no presence of viral DNA. The antecedents of trauma reported by the patient could have played an important role in the development of this tumor

Surgical treatment of erythroleukoplakia in lower lip with carbon dioxide laser radiation

Erythroplakia is considered to represent a premalignant condition and is felt to be at high risk to progress to oral cancer development. When the lesion presents with red and white mucosal alterations concomitantly, the term erythroleukoplakia is used. However, in erythroleukoplakia lesions, the red or erythroplakia areas have been shown to be most likely to demonstrate dysplastic changes compared to the white hyperkeratotic areas. We present a case of patient with erythroleukoplakia involving the lower lip that was treating with carbon dioxide laser radiation (CO2) with 0.8 mm focus, 5 W, power density of 2.5 W/cm(2) in continuous. After the surgery, the vaporized surface was protected with a fibrinolisine + chloramphenicol cream. To date, after 6 months, there has been no clinically evident recurrence on the vermilion area. The functional and esthetic results observed were judged to be excellent.

Papillary cystadenoma of the minor salivary gland of the lower lip

A case report of the papillary cystadenoma from minor salivary gland in lower lip of a 54-year-old man is described.

Retention mucocele on the lower lip associated with inadequate use of pacifier

Mucocele forms because of salivary gland mucous extravasation or retention and is usually related to trauma in the area of the lower lips. Ruptured ducts release the mucous that accumulates into adjacent tissues, leading to swelling. This report describes a large mucocele involving the lower lip, which was produced in a child by incorrect use of a pacifier. A few important concepts are discussed to help clinicians in the diagnosis and treatment of this pathology. © 2010 Dermatology Online Journal.

Apocrine papillary cystadenoma of a minor salivary gland on the lower lip: case presentation

Cystadenomas are a rare, painless, and slow-growing benign epithelial tumor of the salivary gland. This article describes the case of a papillary cystadenoma in the lower lip of a 46-year-old man. The lesion was removed using a carbon dioxide laser, and there were no signs of recurrence 1 year postoperatively.

Schwannoma in the lower lip mucosa: Unexpected diagnosis

Schwannoma is a benign tumor arising from nerve-sheath Schwann cells. When it affects the mouth, the lips are rarely involved. A MEDLINE search in the English literature from 1969 to 2009 revealed only 17 documented cases of schwannomas of the lip. This report describes the unusual case of a 52-year-old man who developed a schwannoma of the lower lip. Histopathologic examination and immunohistochemical staining studies were performed. Although rare, schwannoma should be considered in the differential diagnosis of any nodule or mass in the oral mucosa. (Quintessence Int 2010; 41: 769-771)

Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group.

Ultrasound scans in the mid-trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of cleft lip with or without cleft palate (CL(P)) and cleft palate (CP). All CL(P) and CPs suspected prenatally and identified at birth in the period 1996-98 were registered from 20 Congenital Malformation Registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK, Ukraine. These registries followed the same methodology. A total of 709,027 births were covered; 7758 cases with congenital malformations were registered. Included in the study were 751 cases reported with facial clefts: 553 CL(P) and 198 CP. The prenatal diagnosis by transabdominal ultrasound of CL(P) was made in 65/366 cases with an isolated malformation, in 32/62 cases with chromosomal anomaly, in 30/89 cases with multiple malformations and in 21/36 syndromic cases. The prenatal diagnosis of CP was made in 13/198 cases. One hundred pregnancies were terminated (13%); in 97 of these the cleft was associated with other malformations.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated clefts. Therefore, we hypothesized that some of the families classified as having non-syndromic inherited cleft lip and palate could have an IRF6 mutation. We screened in total 170 patients with cleft lip with or without cleft palate (CL/P): 75 were syndromic and 95 were a priori part of multiplex non-syndromic families. A mutation was identified in 62.7 and 3.3% of the patients, respectively. In one of the 95 a priori non-syndromic families with an autosomal dominant inheritance (family B), new insights into the family history revealed the presence, at birth, of lower lip pits in two members and the diagnosis was revised as VWS. A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). This consists of 2 nodules below the lower lip on the external side. In a 3rd multiplex family (family C), a de novo mutation was identified in an a priori non-syndromic CL/P patient. Re-examination after mutation screening revealed the presence of a tiny pit-looking lesion on the inner side of the lower lip leading to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance.

Prevalence at Birth of Cleft Lip With or Without Cleft Palate: Data From the International Perinatal Database of Typical Oral Clefts (IPDTOC).

As part of a collaborative project on the epidemiology of craniofacial anomalies, funded by the National Institutes for Dental and Craniofacial Research and channeled through the Human Genetics Programme of the World Health Organization, the International Perinatal Database of Typical Orofacial Clefts (IPDTOC) was established in 2003. IPDTOC is collecting case-by-case information on cleft lip with or without cleft palate and on cleft palate alone from birth defects registries contributing to at least one of three collaborative organizations: European Surveillance Systems of Congenital Anomalies (EUROCAT) in Europe, National Birth Defects Prevention Network (NBDPN) in the United States, and International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) worldwide. Analysis of the collected information is performed centrally at the ICBDSR Centre in Rome, Italy, to maximize the comparability of results. The present paper, the first of a series, reports data on the prevalence of cleft lip with or without cleft palate from 54 registries in 30 countries over at least 1 complete year during the period 2000 to 2005. Thus, the denominator comprises more than 7.5 million births. A total of 7704 cases of cleft lip with or without cleft palate (7141 livebirths, 237 stillbirths, 301 terminations of pregnancy, and 25 with pregnancy outcome unknown) were available. The overall prevalence of cleft lip with or without cleft palate was 9.92 per 10,000. The prevalence of cleft lip was 3.28 per 10,000, and that of cleft lip and palate was 6.64 per 10,000. There were 5918 cases (76.8%) that were isolated, 1224 (15.9%) had malformations in other systems, and 562 (7.3%) occurred as part of recognized syndromes. Cases with greater dysmorphological severity of cleft lip with or without cleft palate were more likely to include malformations of other systems.

Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only

In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa. These genotypes were derived from genomic DNA samples obtained from blood spots from children born with isolated orofacial clefts in 45 hospitals located in eight countries (Argentina, Bolivia, Brazil, Chile, Ecuador, Paraguay, Uruguay, and Venezuela) collaborating with ECLAMC (Latin American Collaborative Studies of Congenital Malformations) between January 1998 and December 1999. Dried blood samples were sent by regular mail to the Laboratory of Congenital Malformations, Federal University of Rio de Janeiro. Previous findings suggested that mitochondrial haplotype D is more commonly found among cleft cases born in South America. We hypothesized that association of certain genes may depend upon the ethnic origin, as defined by population-specific markers. Therefore, we tested if markers in MTHFR (5,10-methylenetetrahydrofolate reductase) and RFC1 (reduced folate carrier 1) were associated with oral clefts, depending on the maternal origin defined by the mitochondrial haplotype. Transmission distortion of alleles in MTHFR C677T and RFC1 G80A polymorphic variants was tested in 200 mother/affected child pairs taking into consideration maternal origin. RFC1 variation was over-transmitted to children born with cleft lip only (P = 0.017) carrying mitochondrial DNA haplotypes other than haplotype D. Our results provide a new indication that variation in RFC1 may contribute to cleft lip only. Future studies should investigate the association between oral clefts and RFC1 based on more discrete phenotypes.

The effect of cleft lip on cognitive development in school-aged children: a paradigm for examining sensitive period effects

Background:  Our previous investigation showed that infants with cleft lip who had undergone late (three-month) surgical repair (but not those with early, neonatal, repair) had significantly poorer cognitive development at 18 months than a group of unaffected control children. These differences were mediated by the quality of early mother–infant interactions. The present study examined whether this pattern persisted into later childhood. Method:  At 7 years, 93 index (44 early, and 49 late repair) and 77 control children were followed up and their cognitive development assessed (IQ, language and school achievements). Results:  Index children (particularly those with late lip repair) scored significantly lower than controls on tests of cognitive development. Group differences in Verbal IQ were mediated by 2 months’ maternal sensitivity; this was associated with 7-year Verbal IQ, even after controlling for later mother–child interactions. Conclusions:  Social interactions in the first few months may be of especial importance for child cognitive development. Interventions for infants with cleft lip should be directed at fostering the best possible parental care in infancy.