Pedunculated club-shaped swelling in the nostril.

This paper presents a skin mass found in the nostril of a boy who had no other anomalies. The skin mass was similar to the pedunculated masses with median cleft that have been reported previously. The literature is reviewed, and the relationship between skin masses associated with true median cleft and the skin mass in our patient is discussed.     

The anatomical relations of the ductus vomeronasalis and the occurrence of taste buds in the papilla palatina of Nycticebus coucang (primates, prosimiae) with remarks on strepsirrhinism.

Nycticebus coucang is typically strepsirrhine. This condition is basically the same in all prosimians except Tarsius. The rhinarium shows a labial part; the marked furrow in its median plane clefts the margin of the upper lip. The latter is attached to the gum between the median incisors by means of paired folds (not corresponding to a frenulum labii superioris). The labial cleft is continued in the sulcus papillae palatinae. The ductus vomeronasalis opens into the ductus nasoplatinus which, in turn, enters the aboral part of the sulcus palatinus. Thus strepsirrhinism provides, occasionally, an open communication of the olfactory systems (nose, vomeronasal organ) with the environment in front of the rhinarium. Strepsirrhine primates possess an internarium very similar to the one of platyrrhine monkeys. The shape of the nostrils is not characteristics for strepsirrhinism. A split-lip condition is likely ancestral to the complete lip condition, since it is found in several stems of mammals, especially in archaic forms. Strepsirrhinism, such as in lemuroid prosimians, is probably just one case of the primitive split-lip condition. Therefore, a median furrow in the external hairy skin of the upper lip, found in some platyrrhine monkeys, could be a rudiment of a cleft, indicating that a kind of a split lip condition was ancestral to the undivided lips of platyrrhine monkeys. Taste buds occur in the epithelium of the lateral surface of the papilla palatina of Nycticebus. Other lorisid prosimians have not been studied in this respect. The taste buds test water soluble substances entering the sulcus either way. These substances may come from the environment entering the sulcus through the labial cleft.     

Pai syndrome: first patient with agenesis of the corpus callosum and literature review

BACKGROUND: Pai syndrome (PS) is a rare regional developmental defect of the face, mainly characterized by the variable association of midline cleft of the upper lip (MCL), duplicated maxillary median frenulum, and midline facial cutaneous and midanterior alveolar process polyps. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown. CASE: We describe a 1-month-old boy presenting with MCL, left nostril hamartomatous mass, midline pedunculated polyp originating from the columella base, midline alveolar cleft, duplication of the upper median frenulum, unilateral persistent papillary membrane, lipoma of the corpus callosum, and additional minor facial dysmorphism. This patient also presents with agenesis of the corpus callosum, which has never been reported in PS. Literature review was carried out comparing clinical data of the 20 previously published patients with those observed in the present case. CONCLUSIONS: The minimum diagnostic criteria for PS has been fixed in one or more hamartomatous nasal polyps plus MCL (with or without cleft alveolus) and/or midanterior alveolar process congenital polyp. Additional common ancillary findings include duplicated median maxillary frenulum, hypertelorism, nasal cleft, midfrontal skin tags, and ocular and CNS structural abnormalities. However, mental retardation is only an occasional feature and seems to be related to coexisting conditions (such as chromosome imbalance). Literature review shows that PS is etiologically heterogeneous, as it may result from chromosome abnormalities and environmental/stochastic events, as well as de novo mutations.     

Reconstruction of the superior labial sulcus in secondary bilateral cleft lip deformities: an inverted U-shaped flap.

A shallow buccal sulcus deformity following bilateral cleft lip repair is not rare. A variety of techniques are described for the secondary reconstruction of a deficient sulcus. Most of these are associated with a variable amount of contraction with subsequent obliteration of the sulcus. In this article, an inverted U-shaped flap is described for the secondary reconstruction of the deficient sublabial sulcus. In these patients, mobility of the upper lip was severely restricted, so orthodontic treatment was not possible. This technique was used in nine patients whose primary cleft lip repairs were performed in different institutions. The amount of re-adhesion or contraction was negligible, because a bare surface was not left behind and skin or mucosal grafts were not used. By advancing the lateral segments of the lip medially, projection of the upper lip was increased. The procedure resulted in adequate upper lip mobility for all patients, and sufficient sulcus was maintained during 1 to 6 years of follow-up. The patients experienced no difficulty with orthodontic appliances after this reconstruction.     

Simultaneous reconstruction of the secondary bilateral cleft lip and nasal deformity: Abbé flap revisited

The purpose of this retrospective study was to review the method of using the Abbé flap for correction of secondary bilateral cleft lip deformity in selected patients with tight upper lip, short prolabium, lack of acceptable philtral column and Cupid's bow definition, central vermilion deficiency, irregular lip scars, and associated nasal deformity. A total of 39 patients with the bilateral cleft lip nasal deformity received Abbé flap and simultaneous nasal reconstruction during a period of 6 years. Mean patient age at the time of the operation was 19.1 years, and ranged from 6.6 to 38.5 years. The average follow-up period was 1.8 years. Fourteen patients had prior orthognathic operations. The Abbé flap was designed 13 to 14 mm in length and 8 to 9 mm in width and contained full-thickness tissue from the central lower lip, with a slightly narrow reverse-V caudal end. The prolabium, including the scars and central vermilion, was excised. Lengthening procedures of the upper lip segments were performed if vertical deficiency existed. Part of the prolabial skin was preserved and mobilized for columellar elongation, if indicated. Open rhinoplasty was carried out with or without cartilage graft for columella and nasal tip reconstruction. Reduction of the alar width and nostrils was achieved by a Z-plasty or excision of scar tissue at the nostril floor. The Abbé flap was then transposed cephalad, insetting into the median defect and sutured in layers. The results demonstrated no flap problems or perioperative complications. Seven patients needed further minor revisions on the nose and/or lip. Laser treatment was used to improve the lip scars in three patients. The patients were satisfied with the final outcome and found the lower lip scars acceptable. In conclusion, the described technique of Abbé flap and simultaneous rhinoplasty is an effective reconstructive method for select patients with bilateral cleft lip and nasal deformity.     

Signaling through Tgf-beta type I receptor Alk5 is required for upper lip fusion

Cleft lip with or without cleft palate is one of the most common congenital malformations in newborns. While numerous studies on secondary palatogenesis exist, data regarding normal upper lip formation and cleft lip is limited. We previously showed that conditional inactivation of Tgf-beta type I receptor Alk5 in the ectomesenchyme resulted in total facial clefting. While the role of Tgf-beta signaling in palatal fusion is relatively well understood, its role in upper lip fusion remains unknown. In order to investigate a role for Tgf-beta signaling in upper lip formation, we used the Nes-Cre transgenic mouse line to delete the Alk5 gene in developing facial prominences. We show that Alk5/Nes-Cre mutants display incompletely penetrant unilateral or bilateral cleft lip. Increased cell death seen in the medial nasal process and the maxillary process may explain the hypoplastic maxillary process observed in mutants. The resultant reduced contact is insufficient for normal lip fusion leading to cleft lip. These mice also display retarded development of palatal shelves and die at E15. Our findings support a role for Alk5 in normal upper lip formation not previously reported.     

Median facial clefts in Xenopus laevis: roles of retinoic acid signaling and homeobox genes

The upper lip and primary palate form an essential separation between the brain, nasal structures and the oral cavity. Surprisingly little is known about the development of these structures, despite the fact that abnormalities can result in various forms of orofacial clefts. We have uncovered that retinoic acid is a critical regulator of upper lip and primary palate development in Xenopus laevis. Retinoic acid synthesis enzyme, RALDH2, and retinoic acid receptor gamma (RARγ) are expressed in complementary and partially overlapping regions of the orofacial prominences that fate mapping revealed contribute to the upper lip and primary palate. Decreased RALDH2 and RARγ result in a median cleft in the upper lip and primary palate. To further understand how retinoic acid regulates upper lip and palate morphogenesis we searched for genes downregulated in response to RARγ inhibition in orofacial tissue, and uncovered homeobox genes lhx8 and msx2. These genes are both expressed in overlapping domains with RARγ, and together their loss of function also results in a median cleft in the upper lip and primary palate. Inhibition of RARγ and decreased Lhx8/Msx2 function result in decreased cell proliferation and failure of dorsal anterior cartilages to form. These results suggest a model whereby retinoic acid signaling regulates Lhx8 and Msx2, which together direct the tissue growth and differentiation necessary for the upper lip and primary palate morphogenesis. This work has the potential to better understand the complex nature of the upper lip and primary palate development which will lead to important insights into the etiology of human orofacial clefts.     

Experience with the functional cleft lip repair

The first 12 functional cleft lip repairs performed on unselected consecutive patients immediately following the completion of training by the author are presented. Previous reports on this cleft lip repair have shown excellent results but have always been based on patients operated on by the originator of the procedure. This report gives credence to the ease with which a cleft lip repair that gives reproducible good results can be taught and learned even by plastic surgeons with limited experience. It reviews the technical steps of the procedure, which emphasizes wide undermining and release of the orbicularis oris muscle on the lateral side of the cleft to allow redraping and lengthening of the lip skin, step-by-step layered closure of the mucosa, muscle, and skin, and further vertical lengthening of the lip with a Z-plasty skin closure. Three elements that are difficult to achieve or restore with cleft lip revision are evaluated: (1) achievement of a good skin scar, (2) maintenance of the alar-facial groove, and (3) achievement of adequate lip height without sacrificing horizontal lip length. Ten of the 12 patients had a satisfactory scar, 9 patients had a good alar-facial groove, and all patients had a normal-appearing horizontal lip length. Nine patients required secondary surgery; however, in six patients, this included correction of the nasal deformity that was not corrected at the time of cleft lip repair.     

Analysis of the lengthening effect of the muscle repair in functional cleft lip repair

In 14 patients undergoing functional cleft lip repair, changes in the lengths of the key lip segments were measured preoperatively, after the muscle layer was repaired, and after the skin was repaired using pieces of wire bent to follow the curves of the lip in three dimensions. The cleft side of the lip was shorter than the normal side in the vertical and horizontal dimensions. Freeing the muscle from its dermal insertions, splitting it, and advancing it into the medial side of the cleft lengthened the cleft side of the lip vertically and horizontally. The Z-plasty skin repair further lengthened the cleft side of the lip in the vertical dimension. The lengthening effect of the muscle repair appears to be the result of the loose skin redraping over the dissected muscle and further explains elimination of the orbicularis bulge and superior scar formation in the functional cleft lip repair.     

Muscle reconstruction in cleft lip repair

This article presents a method of muscle reconstruction in the cleft lip patient that grossly reproduces the interlacing muscle anatomy in the central portion of the upper lip and thereby addresses both the static and the functional requirements of cleft lip repair. This lip repair procedure is combined with paranasal muscle reconstruction, preoperative nasoalveolar molding, and postoperative nasal stenting to constitute a comprehensive approach to cleft lip/nose repair.     

Rectangular flap for horizontal upper vermilion tightness in secondary cleft lip deformity

Radical paring of the cleft edge during a primary cleft operation or repeated secondary surgeries can result in tightness of the upper lip. The degree of the resulting side-to-side tension can vary, from mild cases for which improvement is sought through realignment of the misplaced oral sphincter muscle in secondary revision, to severe cases for which the possibility of a lip switch flap must be considered. When the lip tightness accompanies more than three-quarters loss of the Cupid's bow, an Abbé flap is an alternative. However, the lip switch flap is far from ideal, in both artistic and functional perspectives, and should be avoided if at all possible in mild to moderate degrees of lip tightness. This study presents a method of correcting horizontal cleft upper lip tightness, especially of the vermilion. The method involves local transfer of an inferiorly based rectangular flap from the relatively redundant upper two-thirds to the lower one-third of the upper lip and vermilion. Primary indications for the technique include vermilion tightness with half to three-quarters loss of Cupid's bow. The method has the advantage of supplementing the horizontal lip dimension on the cleft side and restoring a natural Cupid's bow, thereby repositioning the shifted philtral column and adding fullness to the lower one-third of the upper lip. Incorporation of the upper lip scar in the rectangular flap removes ugly scars and spares the lower lip from surgical violation. The orbicularis sphincter function, as seen in facial animation, was well regained. Twenty unilateral and three bilateral cases with a maximal follow-up period of 4.5 years are presented.     

Rare craniofacial clefts: Tessier no. 4 clefts

A major difficulty in understanding rare craniofacial clefts arises from the fact that previous reports have focused on a single case or have grouped together different types of rare clefts. Less than 50 Tessier no. 4 clefts have been reported. This paper examines our experience with eight patients treated primarily or secondarily for Tessier no. 4 clefts. A treatment plan is recommended. The primary early concern is protection of the eye. Early correction of soft-tissue deformities should include skin, muscle, and lining of the orbit, cheek, and oral cavity. Contrary to the dictum that all soft tissue must be preserved, the medial portion of the upper lip from the cleft to the philtral ridge must be resected to prevent poorly camouflaged scars, muscle deficiency, and macrostomia. Bone grafting should be undertaken at an early age using calvarial bone. Late operations will be necessary for correction of medial and lateral canthal position, epiphora, lower eyelid skin deficiency, and further bony augmentation.     

Advanced squamous cell carcinoma involving both upper and lower lips and oral commissure with simultaneous reconstruction by local flap: a case report

Introduction

Squamous cell carcinoma is one of the most common malignant tumors of the skin and oral mucosa. However, squamous cell carcinoma involving near total upper and lower lip and oral commissure is rarely seen in the English literature. Simultaneous reconstruction of the upper and lower lips has been inconclusive and presents a challenge to the surgeon. We report such a case and outline our simultaneous reconstruction with local flaps. To the best of our knowledge this has never been reported.

Case presentation

A 73-year-old Thai woman presented with a large rapidly growing squamous cell carcinoma involving the upper lip, lower lip, left oral commissure and left cheek. En bloc resection of upper lip, lower lip, left oral commissure and buccal region was performed. Left radical neck dissection and right modified neck dissection were performed. Reconstruction of the upper lip with a left nasolabial-cheek cervicofacial rotational-advancement flap and right cheek advancement with perialar crescent flap was performed. The lower lip was reconstructed with bilateral labiomental advancement flaps.

Conclusions

Squamous cell carcinoma can grow rapidly and spread along the orbicularis oris muscle and across the oral commissure to the opposite lip. In advanced cancer, multimodal treatment is necessary. No gold standard in the reconstruction of both upper and lower lips has been established. We report the case of an advanced squamous cell carcinoma involving both the upper lip, lower lip, left oral commissure and buccal area and simultaneous reconstruction with local flap coverage that, to the best of our knowledge, has never been reported.     

Reconstruction of vermilion in unilateral and bilateral cleft lips

The white skin roll is a useful term to describe the cutaneo-vermilion border of the lip. The muco-vermilion border line parallels the white skin roll and is described as the red line. The lip vermilion should be constructed so that these lines are parallel and widest at the base of the philtral column. It is suggested that the triangular lateral lip vermilion flap be used in unilateral cleft lips. In bilateral cleft lips, a white skin roll vermilion-mucosal muscle flap is used for reconstruction of vermilion.     

Wnt9b-dependent FGF signaling is crucial for outgrowth of the nasal and maxillary processes during upper jaw and lip development

Outgrowth and fusion of the lateral and medial nasal processes and of the maxillary process of the first branchial arch are integral to lip and primary palate development. Wnt9b mutations are associated with cleft lip and cleft palate in mice; however, the cause of these defects remains unknown. Here, we report that Wnt9b(-/-) mice show significantly retarded outgrowth of the nasal and maxillary processes due to reduced proliferation of mesenchymal cells, which subsequently results in a failure of physical contact between the facial processes that leads to cleft lip and cleft palate. These cellular defects in Wnt9b(-/-) mice are mainly caused by reduced FGF family gene expression and FGF signaling activity resulting from compromised canonical WNT/β-catenin signaling. Our study has identified a previously unknown regulatory link between WNT9B and FGF signaling during lip and upper jaw development.     

Epithelium of lips and associated structures of the Indian major carp,Catla catla

Structural organization of the epithelium of the lips and associated structures of the Indian major carp,Catla catla, is described. The upper lip is thin and is associated on its dorsal side with a membranous fold of skin and the rostral cap. In contrast, the lower lip is thick and very conspicuous. It is associated on its ventral side with a fold of skin between it and the ventral head skin. The lower lip is divided into a non-projectile portion, a projectile portion and an intermediate groove region. The projectile portion remains folded covering a part of the ventral head skin when the mouth is closed. Their role in relation to the formation of the characteristic feeding tube is discussed. The epithelium of the lips and associated structures is stratified in nature and is composed of the epithelial cells, mucous cells, club cells, lymphocytes and the taste buds. The mucous cells are small, few or even absent and do not appear to secrete profusely at the surfaces of the upper and the lower lips. This suggests that the lips inCatla catla, which feeds on micro-organisms, do not need extra lubrication for protection against abrasion during feeding. In the epithelium at the folds of skin, the voluminous mucous cells secrete profusely and provide extra lubrication to their surface. This reduces the resistance to surface drag during stretching and enables the jaws to protrude with increasing efficiency and swiftness. The club cells are developed additionally to complement the mucous cells in the rostral cap and the upper lip epithelium. Their primary function appears protective in some way, which needs further confirmation. The taste buds, though few in the lower lip, are located in a good number in the upper lip on the characteristic epithelial papillae-like projections, and are projected at the surface. These have been associated with the acute gustatory sense of the fish. The taste buds are absent on the folds of skin where they may not be of much significance.     

A prospective evaluation of the prevalence of submucous cleft palate in patients with isolated cleft lip versus controls.

Although there is an established relationship between cleft lip and overt cleft palate, the relationship between isolated cleft lip and submucous cleft palate has not been investigated. To test the hypothesis that patients with isolated cleft lip have a greater association with submucous cleft palate, a double-armed prospective trial was designed. A study group of 25 consecutive children presenting with an isolated cleft lip, with or without extension through the alveolus but not involving the secondary palate, was compared with a control group of 25 children with no known facial clefts. Eligible patients were examined for the presence of physical criteria associated with classic submucous cleft palate, namely, (1) bifid uvula, (2) absence of the posterior nasal spine, and (3) zona pellucida. Nasoendoscopy was subsequently performed just after induction of general anesthesia, and the findings were correlated with digital palpation of the palatal muscles. Patients who did not satisfy all three physical criteria and in whom nasoendoscopy was distinctly abnormal relative to the control group were classified as having occult submucous cleft palate. Classic submucous cleft palate was found in three study group patients (12 percent), all of whom had flattening or a midline depression of the posterior palate and musculus uvulae on nasoendoscopy and palpable diastasis of the palatal muscles under general anesthesia. An additional six study group patients (24 percent) had similar nasoendoscopic criteria and palpable diastasis of the palatal muscles; they were classified as having occult submucous cleft palate. No submucous cleft palate was identified in the control group. Seventeen patients in the study group had an alveolar cleft with a 53 percent (9 of 17) prevalence of submucous cleft palate. In the present study, classic submucous cleft palate in association with isolated cleft lip was 150 to 600 times the reported prevalence in the general population. All children with an isolated cleft lip should undergo peroral examination and speech/resonance assessment no later than the age of 3 years. Any child with an isolated cleft lip with velopharyngeal inadequacy or before an adenoidectomy should be assessed by flexible nasal endoscopy to avoid missing an occult submucous cleft palate.     

The cleft lip lower-lip deformity

A patient with a repaired upper lip cleft may acquire a deformity in the lower lip. Records of 63 cleft lip patients who exhibited lower-lip abnormalities were analyzed in order to characterize the soft-tissue and skeletal configuration. The typical deformity was a hypertrophied, superiorly displaced, and anteriorly rotated lower lip. Skeletal analysis of the mandible revealed a variable and inconsistent degree of vertical elongation with posterior displacement of the chin. Operative correction of the cleft lip lower-lip deformity required evaluation of both the soft-tissue and skeletal abnormalities. Soft-tissue procedures gave permanent correction, provided there was a normal maxillary-mandibular relationship. Skeletal correction alone did not completely rectify the abnormal lower-lip posture.     

Three-dimensional lip morphometry in adults operated on for cleft lip and palate

Measurements were taken from 18 patients operated on for cleft lip and palate, aged 19 to 27 years, and 162 control subjects matched for sex, age, and ethnic group. Nine soft-tissue landmarks on the lips were digitized by a three-dimensional electromagnetic instrument. From the landmarks, several linear distances (mouth width, philtrum width, vermilion height of upper and lower lip, total vermilion height, total lip height), the interlabial angle, and some areas (vermilion of upper lip, vermilion of lower lip, total vermilion) and volumes (upper lip volume, lower lip volume, total lip volume) were calculated. Patient and reference data were compared by t tests and Watson-Williams tests. In the men, significant differences (p < 0.05) were found in width of the philtrum, height and area of the vermilion part of the upper lip, and total vermilion height and area (all larger in male patients than in controls). In the women, significant differences were found in the height and area of the vermilion part of the upper lip (larger in female patients than in controls), and in the height and area of the vermilion part of the lower lip (smaller in patients than in controls). In both sexes, the interlabial angle was smaller than in the reference population. In conclusion, the upper lip of adult patients operated on for cleft lip and palate differed from that of healthy controls of the same age, sex, and ethnic group. Surgical correction of cleft lip and palate failed to provide a completely normal appearance. The analysis pointed out those parts of the lips and mouth (in particular, the vermilion part of the upper lip) that differed the most from the norm. The method may be used to indicate to the surgeon and patient where additional procedures might be performed to approximate the morphologic characteristics of a reference population.