True median cleft of the upper lip associated with three pedunculated club-shaped skin masses

A rare case of true median cleft of the upper lip associated with three skin masses is reported. While 114 cases of median cleft of the upper lip have been reported, in our literature review we found only 1 case, reported by Sharma, in which the median cleft was associated with skin masses. The embryology of this case is also discussed.     

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.     

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.     

Gross Anatomy and Histology of the Hook and Skin of Forehead Brooding Male Nurseryfish, Kurtus Gulliveri, From Northern Australia

Mature males of nurseryfish have a hook on their head to which the eggs become attached and are carried like a bunch of grapes. This paper examines the anatomy and histology of the hook. The osteological basis of the hook is shown to be a modification of the supraoccipital crest of the skull covered by typical teleost skin. The integument in the cleft of the hook, where the eggs are attached, is considerably different from ordinary fish skin. The stratified epidermis is devoid of secretory mucus and neurosensory cells and is folded into crypts that extend deeply into the dermis. This may be a specialization that facilitates adhesion of the sticky egg mass. Field observations show that this cleft area of the hook is edematous, and histology confirms that the area is highly vascularized. We speculate that this may facilitate gas exchange and/or nutrition between the male and the egg mass, but this can only be confirmed by physiological experiments with pregnant males in captivity. Engorgement with blood in the highly vascularised dermis of the hook may help hold the egg mass in place.     

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.     

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.     

A comparative study of the skin envelope of the unilateral cleft lip nose subsequent to rotation-advancement and triangular flap lip repairs

The secondary nasal skin envelope asymmetries were studied after unilateral cleft lip repair using the original (obsolete) rotation-advancement (Millard I) and the triangular flap techniques (Bardach's modification). Secondary correction of the nasal deformity was not performed in either group. Our findings indicated that in both groups, vertical asymmetries of the nasal skin envelope were similar. The alar dome on the cleft side was depressed, the columella was shorter on the cleft side, and there was hooding at the nostril apex. The principal difference between the two lip repairs was observed in the horizontal dimension of the nasal skin envelope. The position of the alar base was more normal following the Millard I repair, while the triangular flap repair left the alar base laterally displaced. When considered together with flattening of the cleft alar dome, a horizontal skin-envelope deficiency from middome to lateral alar crease was produced in the Millard I group. More lateral positioning of the alar base after the triangular flap technique minimized this horizontal skin deficiency. The triangular flap technique produced a secondary nasal deformity that looked worse but was easier to correct. The clinical implications of these findings are discussed.     

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.     

Primary correction of the unilateral cleft lip nose: a 15-year experience

This paper reviews a 15-year personal experience based on 400 unilateral cleft nasal deformities that were reconstructed using a method that repositions the alar cartilage by freeing it from the skin and lining and shifts it to a new position. The rotation-advancement lip procedure facilitates the exposure and approach to the nasal reconstruction. The nasal soft tissues are transected from the skeletal base, reshaped, repositioned, and secured by using temporary stent sutures that readapt the alar cartilage, skin, and lining. The nasal floor is closed and the ala base is positioned to match the normal side. Good subsequent growth with maintenance of the reconstruction has been noted in this series. The repair does not directly expose or suture the alar cartilage. Improvement in the cleft nasal deformity is noted in 80 percent of the cases. Twenty percent require additional techniques to achieve the desired symmetry. This method has been used by the author as his primary unilateral cleft nasal repair and has been taught to residents and fellows under his direction with good results. This technique eliminates the severe cleft nasal deformity seen in many secondary cases.     

Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment

Two cases of median cleft syndrome with associated basal encephalocele are presented. The median cleft face syndrome consists of several craniofacial defects and occurs, as far as we know, sporadically. Extracranial defects should be looked for carefully since they may indicate the presence of a specific syndrome with its own prognosis and mode of inheritance. Basal encephaloceles are sometimes part of the syndrome and may cause serious, or even life-threatening, symptoms. With regard to the treatment of basal encephaloceles there still exists a lot of controversion, but most authors agree that it is better to postpone operation until after the age of three because mortality is lower then.     

Secondary rhinoplasty using flying-bird and vestibular tornado incisions for unilateral cleft lip patients

To correct the nasal deformity in cleft lip patients, a new procedure of open rhinoplasty using a "flying-bird" incision in the nostril tip with a vestibule "tornado"-shaped incision in the cleft side is presented. The newly designed vestibular incision produces effective vestibular advancement with the freed lower lateral cartilage. The flying-bird incision makes it possible to produce a suitable nostril tip appearance with symmetrical external nostril vestibules. If the vestibular defect after flap advancement is wide, a full-thickness skin graft is used to give priority for making a good external nostril shape. This procedure is useful for most cleft lip noses, particularly in cases of moderate to severe deformity.     

Familial clustering of a rare syndrome

Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.     

A newborn infant with sternal malformation/vascular dysplasia association

Sternal malformation/vascular dysplasia complex was described by Hersch et al. in 1985. The principle findings include cleft of the sternum covered by an atrophic skin, a midline abdominal raphe and hemangiomatosis. The inheritance pattern seems to be sporadic. We report a newborn baby with sternal defect, cleft lip and palate, supraumbilical raphe and hemangiomas.     

Environmental factors, regional body size distributions and spatial variation in body size of local avian assemblages

Aim To determine how well variation in median body size of avian assemblages is predicted by (1) the environmental models usually employed in analyses of Bergmann's rule and (2) random sampling from the regional body size frequency distribution. If body size frequency distributions of local assemblages represent a random sample of a regional frequency distribution, then geographical variation in body sizes of assemblages might be a consequence of the determinants of spatial variation in species richness rather than direct influences on body size per se. Location Southern Africa. Methods Median body masses (as a measure of body size) of avian assemblages were calculated for quarter‐degree grid cells across South Africa and Lesotho. The relationship between median body mass and four environmental variables (minimum and maximum monthly temperatures, precipitation and seasonality in the normalized difference vegetation index, as a measure of seasonality in productivity) was examined using general linear models first without taking spatial autocorrelation into account, and then accounting for it by fitting an exponential spatial covariance structure. Model fit was assessed using the Akaike information criterion and Akaike weights. At each species richness value, random assemblages were sampled by either drawing species randomly from the regional body mass frequency distribution, or drawing species from the regional body mass frequency distribution with a probability proportional to their geographical distribution in the area. The ability of randomizations to predict actual body masses was examined using two‐tailed Fisher exact tests. Results Seasonality in productivity was the only environmental variable that remained a significant predictor of body mass variation in spatially explicit models, though the positive relationship was weak. When species richness was included in the models it remained the only significant predictor of size variation. Randomizations predicted median body mass poorly at low species richness, but well at high richness. Main conclusions Environmental models that have previously been proposed explain little of the variation in body mass across avian assemblages in South Africa. However, much of the variation in the median mass of assemblages could be predicted by randomly drawing species from the regional body mass frequency distribution, particularly using randomizations in which all species were drawn from the regional body mass frequency distribution with equal probability and at high species richness values. This outcome emphasizes the need to consider null expectations in investigations of the geographical variation in body size together with the probable environmental mechanisms underlying spatial variation in average size. Moreover, it suggests that in the South African avifauna, spatial variation in the body sizes of assemblages may be determined indirectly by the factors that influence geographical variation in species richness.     

Mass spectrometric proteomics profiles of in vivo tumor secretomes: capillary ultrafiltration sampling of regressive tumor masses

Identification of in vivo secreted peptides/proteins (secretomes) in tumor masses has the potential to provide important biomarkers and therapeutic targets for cancer therapy. However, limitations of existing technologies have made obtaining these secretomes for analysis extremely difficult. Here we employed an in vivo sampling technique using capillary ultrafiltration (CUF) probes to collect secretomes directly from tumor masses. Mass spectrometric proteomics approaches were then used to identify the tumor secretomes. A UV-induced skin fibrosarcoma cell line (UV-2240) was subcutaneously injected into C3H/NeH mice, resulting in tumor masses that initially progressed, then regressed and eventually eradicated. We then implanted CUF probes into tumor masses at the progressive and regressive stage. Five secreted proteins (cyclophilin-A, S100A4, profilin-1, thymosin beta 4 and 10), previously associated with tumor progression, were identified from tumor masses at the progressive stage. Five secreted proteins including three protease inhibitors (fetuin-A, alpha-1 antitrypsin 1-6, and contrapsin) were identified from tumor masses at the regressive stage. The technique involving CUF probes linked to mass spectrometric proteomics reinforces systems biology studies of cell-cell interactions and is potentially applicable to the discovery of in vivo biomarkers in human disease.     

Dispersal of the Old World screw-worm fly Chrysomya bezziana

Abstract. Dispersal of the Old World screw-worm fly, Chrysomya bezziana Villeneuve, was studied in Papua New Guinea by releasing radio-isotope labelled, laboratory-reared flies and collecting their labelled egg masses from sentinel cattle. A log-linear model was developed to describe recapture rate. Distance was found to dominate the model and was represented by a bilinear ('broken-stick') term as log-distance. Further terms in the model such as attractiveness of the site (estimated from the number of non-labelled egg masses), the season of the year and a time trend were statistically significant but of minor importance. From the model, the median distance females dispersed before depositing an egg mass was 10.8 km. The maximum distance from the release site that egg masses were recovered was 100 km.
The dispersal ability of C. bezziana is discussed in terms of its impact on the prospects of eradicating this species using SIRM if an outbreak occurred in Australia.     

Contributions to the study of oviparity–viviparity transition: Placentary structures of Liolaemus elongatus (Squamata: Liolaemidae)

Liolaemus elongatus (Liolaemidae) is a viviparous, mainly lecithotrophic species with placental structures specialized for uptake of oxygen and inorganic nutrient transport. An allantoplacenta and an omphaloplacenta are present during early embryonic stages (25–28) and there is a moderate distension of the uterine wall and major glandular activity in the uterine mucosa and submucosa compared with nonpregnant females. The uterine epithelium increases in height, first as a growth in the height of some dispersed cells localized in all regions of the placenta, and later as groups of cells localized in the periembryonic and central‐abembryonic regions. At embryonic stage 39, the allantoplacenta reaches its maximum extension around the yolk sac. Omphaloplacenta is restricted to the abembryonic zone, the yolk cleft limiting the newly formed isolated vitelline mass. At more advanced embryonic stages (39–42), the blood supply to the allantoplacenta's periembryonic zone increases, matching the profuse allantoic vascularization. At embryonic stage 42, a secondary cleft opens in the main vitelline mass, above the first yolk cleft, and allantoic blood vessels enter into this secondary cleft. This secondary cleft subdivides the vitelline mass into a large embryonic region connected to a much smaller abembryonic region. In L. elongatus most nutritional resources seem to be provided by the yolk that remains attached to the newborn for 2 or 3 days as an external supply. The embryo's wet weight doubles the weight of the decrease observed in vitelline mass. But the dry wet diminishes, evidencing the importance of the exchange of water and inorganic nutrients. J. Morphol., 2008. © 2008 Wiley‐Liss, Inc.     

Designs for correction and camouflage of bilateral clefts of the lip and palate

The bilateral cleft anomaly is difficult to correct and camouflage because of the double lack of many important landmarks and the shortness of skin in the midvertical plane. A possible solution in patients who have some columella or in those of races not needing a long columella is the strap flap advancement of the nostril sills and alar bases. In all other cases, the forked flap is the method of choice for adequate correction and camouflage of the bilateral cleft lip-nose deformity.     

Xanthogranuloma as an Unsuspected Cause of Idiopathic Central Diabetes Insipidus

ObjectiveTo demonstrate that xanthogranuloma is a rare cause of idiopathic central diabetes insipidus in the early phase of the disease and that it presents as a suprasellar mass at a later stage. In addition, we emphasize the importance of identifying the cause of idiopathic central diabetes insipidus and review the literature concerning endocrine disturbance in central xanthogranuloma.MethodsReview of recently published case reports of central xanthogranuloma with endocrine disorders. The case of a 35-year-old man who presented with a very large suprasellar mass is also reported. The patient was diagnosed with idiopathic central diabetes insipidus 20 years ago with normal brain magnetic resonance imaging.ResultMost cases of this disease present as supra-or parasellar masses with endocrine involvement, the most common of which (in approximately 75% of patients) is sex hormone deficiency. Diabetes insipidus was found in 65% of patients.ConclusionXanthogranuloma should be in the differential diagnosis of idiopathic central diabetes insipidus and sellar and parasellar masses. A detailed skin examination is very important in making the diagnosis of central diabetes insipidus. (Endocr Pract. 2014;20:e42-e46)