The philtrum plays a key role in the appearance of the upper lip and nostril sill. Therefore, construction of the philtrum is crucial for attaining a natural appearance of the upper lip. We used a flipping myoplasty of the orbicularis oris muscle on a patient with a flat philtrum in order to effectively reconstruct the philtral dimple and column. A 35-year-old female presented to our department with the complaint of a flat upper lip. A superficial layer of the orbicularis oris muscle on the median aspect of the upper lip was vertically incised and elevated to a thickness of 2 mm. Both sides of the elevated muscle flap were then folded to the lateral sides so that the border could be sutured onto the outer portion of the orbicularis oris muscle. The patient was observed for one year postoperatively. Her philtrum deepened by 1.25 mm, with the central angle of her Cupid's bow improving from a preoperative measurement of 146° to 128° postoperatively. In a patient with an indistinct philtrum, a flipping orbicularis oris myoplasty was performed to attain a definite philtral column and a philtral dimple. Natural upper lip movement was maintained, and an aesthetically and functionally satisfactory reconstruction was achieved.
Lip; Surgical flaps; Reconstructive surgical procedure
Interstitial deletions of the long arm of chromosome 13 (13q) are related with variable phenotypes, according to the size and the location of the deleted region. The main clinical features are moderate/severe mental and growth retardation, cranio-facial dysmorphism, variable congenital defects and increased susceptibility to tumors. Here we report a 3-year-old girl carrying a de novo 13q13.3-21.32 interstitial deletion. She showed developmental delay, growth retardation and mild dysmorphism including curly hair, high forehead, short nose, thin upper lip and long philtrum. An abnormal mass was surgically removed from her liver resulting in a hemangioendothelioma. Array analysis allowed us to define a deleted region of about 27.87 Mb, which includes the RB1 gene. This is the first report of a 13q deletion associated with infantile hemangioendothelioma of the liver.
RB1; Tumor; Hemangioendothelioma; Liver; Chromosome 13q; Deletion; Syndrome
Duplication of mandible and lower lip is a very rare congenital entity. We report an extremely uncommon case of Congenital Duplication of Lower lip and Mandible in a 3 year old girl, who was treated surgically in a single stage for correction of both lip and mandible. This was a commissure preserving single staged procedure. The Surgical procedure, the problems related to this anomaly and the embryology are discussed.
Duplication; lower lip; mandible
INTRODUCTION Cystic artery pseudoaneurysms and cholecystoenteric fistulae represent two rare complications of gallstone disease.
PRESENTATION OF CASE An 86 year old male presented to the emergency department with obstructive jaundice, RUQ pain and subsequent upper gastrointestinal bleeding. Upper GI endoscopy revealed bleeding from the medial wall of the second part of the duodenum and a contrast-enhanced computed tomography scan revealed a cystic artery pseudoaneurysm, concurrent cholecystojejunal fistula and gallstone ileus. This patient was successfully managed surgically with open subtotal cholecystectomy, pseudoaneurysm resection and fistula repair.
DISCUSSION To date there are very few cases describing haemobilia resulting from a bleeding cystic artery pseudoaneurysm. This report is the first to describe upper gastrointestinal bleeding as a consequence of two synchronous rare pathologies: a ruptured cystic artery pseudoaneurysm causing haemobilia and bleeding through a concurrent cholecystojejunal fistula.
CONCLUSION Through this case, we stress the importance of accurate and early diagnosis through ultra- sonography, endoscopy, and contrast-enhanced CT imaging and emphasise that haemobilia should be included in the differential diagnosis of anyone presenting with upper gastrointestinal bleeding. We have demonstrated the success of surgical management alone in the treatment of such a case, but accept that consideration of combined therapeutic approach with angiography be given in the first instance, when available and clinically indicated.
Cystic Artery; Pseudoaneurysm; Cholecystojejunal fistula; Cholecystoenteric fistula
We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;q11.2), in a 13 year old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. Pai syndrome is characterised by median cleft of the upper lip, pedunculated skin mass(es) on the face, and midline lipoma(s) of the central nervous system. The cause of this syndrome is unknown, although autosomal dominant inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions for a gene responsible for median cleft of the upper lip and pedunculated skin mass(es) on the face, including Pai syndrome.
A report of a 67-year-old man, who had been suffering from an enterocutaneous fistula after a left hemicolectomy due to colon cancer is presented. He had sudden intermittent upper abdominal pain and a high amylase level in the drainage fluid. The fistulogram showed a colocutaneous fistula with an abnormal cavity in the left upper quadrant. ERCP was performed to demonstrate the relationship between the pancreatic duct and the colocutaneous fistula connected with the abnormal cavity, and showed a pancreatico-colo fistula which was connected with the abnormal cavity. From the results of the above two studies, a diagnosis of the pancreatico-colocutaneous fistula could be drained, and a distal pancreatectomy, splenectomy and closing of the colonic opening were performed. After the operation, the patient was discharged without problem. We report herein a case of pancreaticocolocutaneous fistula which was confirmed by ERCP preoperatively and surgically treated successfully.
True median cleft of the upper and lower lip occurs very rarely. Complete or partial facial duplication is an extremely rare malformation. Approximately 26 cases have been reported since 1900, spanning a wide spectrum of clinical severity. Most cases appear to share a number of features, including cleft palate, duplication of the tongue, orbital hypertelorism and macrostomia. An unusual patient with midline clefts of the upper and lower lips with an apparent duplication of the mouth and a teratoid polyp, with fusion of the maxilla and mandible, is reported. The early management and surgical intervention is discussed. Furthermore, postoperative outcomes are reviewed as part of a 15-year postsurgical follow-up.
Dysraphism; Mouth duplication; Teratoid polyp
Congenital double lip is a rare developmental anomaly which usually involves the upper lip more than the lower lip. It may occur in isolation or as a part of Ascher’s syndrome. Sometimes upper and lower double lips occur simultaneously.
The occurrence of double lip may result in facial deformity especially when the patient attempts to talk, smile or even show the teeth. It may also interfere with speech or mastication. Although surgery may be undertaken to facilitate speech and mastication, the majority of cases are operated for cosmetic reasons.
A case of congenital double upper lip, which was surgically treated after orthodontic treatment, for cosmetic reasons, is reported. The different surgical approaches to the management of double upper lip are reviewed with a note on timing of surgery in patients who have concurrent orthodontic or prosthodontic problems.
Although the majority of cases of double lip are treated by Plastic Surgeons and Oral and Maxillofacial Surgeons, it is important to make dentists aware of this condition since they may be the first clinicians to encounter patients with this abnormality.
Double lip; Congenital; Acquired; Ascher’s syndrome; Ellipse excision; W-plasty; Central constriction; Mucous gland hyperplasia; Pars villosa; Pars glabrosa
An aberrant right subclavian artery (ARSA) is a common aortic arch abnormality. A case of a 57-year-old man presenting with melena and hypotension secondary to an ARSA-esophageal fistula is reported. The current report is unique because it is the first reported case of ARSA-esophageal fistula associated with prior esophagectomy and gastric pull-up. A MedLine search was performed for ARSA-esophageal fistula cases, which were then compared with the present case. Because this patient had no vascular conduits, nasogastric or endotracheal tubes, the fistula likely occurred secondary to the previous surgery. This case is unusual because the patient survived the original hemorrhage associated with the ARSA-esophageal fistula.
An ARSA-esophageal fistula is a rare, but potentially fatal cause of upper gastrointestinal bleeding. A high index of suspicion is needed to make the diagnosis. This condition should be considered in patients with risk factors combined with hemodynamically significant gastrointestinal bleeding.
Aberrant right subclavian artery; Esophagectomy; Gastric pull-up; Gastrointestinal bleeding; Subclavian artery-esophageal fistula
Arterioportal fistula (APF) is an abnormal, direct connection between hepatic artery or its branch and the portal vein. Fistula can be acquired or, rarely, congenital. One of the acquired causes of fistula is a liver biopsy. Patients with liver cirrhosis are particularly vulnerable to its development due to the large number of performed biopsies. APF increases mortality and morbidity of liver transplantation procedure and may be a contraindication to it. The authors present a patient with liver cirrhosis, in whom percutaneous APF closure facilitated liver transplantation.
We describe a case of a 50-year-old patient with liver cirrhosis and APF, probably formed as a result of liver biopsy. Due to the presence of a high-flow fistula, which elevated portal hypertension, patient did not qualify for the liver transplantation. Patient was transferred to the interventional radiology department, where the fistula’s vascular supply was endovascularly closed using the Amplatzer occluder. This subsequently enabled the execution of transplantation.
Percutaneous closure of APF should be considered a relatively simple and fast-acting tool to facilitate or even enable liver transplant surgery. Currently, there are more and more products available such as e.g. Amplatzer occluder to simplify the procedure and shorten the duration of exposure to ionizing radiation.
arterioportal fistula; endovascular; liver transplantation; Amplatzer occluder
Bronchoperitoneal fistulas are extremely rare. We present a case where retained surgical drains from a previous surgery resulted in erosion and fistula formation. This condition required an extensive surgical procedure and advanced ventilator techniques.
A 24-year-old African-American man presented to our Emergency Department with a one-week history of fever, dyspnea, cough, and abdominal pain. A computed tomography scan of his chest and abdomen revealed bilateral lower lobe pneumonia and two retained Jackson-Pratt drains in the right upper quadrant. He was taken to the operating room for drain removal, a right hemicolectomy, debridement of a duodenal injury, a Roux-en-y duodenojejunostomy, and an end ileostomy. He subsequently became increasing hypoxemic in the intensive care unit and a bronchoperitoneal fistula was diagnosed. He required high-frequency oscillatory ventilation followed by lung isolation, and was successfully resuscitated using these techniques.
To the best of our knowledge, this is the first known case report of a bronchoperitoneal fistula caused by retained surgical drains. This is also the first known report that details successful management of this condition with advanced ventilatory techniques. This case highlights the importance of follow-up for trauma patients since retained surgical drains have the potential to cause life-threatening complications. When faced with this condition, clinicians should be aware of advanced ventilatory methods that can be employed in the intensive care unit. In this case, these techniques proved to be life-saving.
Fistula formation in patients with Crohn’s disease is a common complication during the course of the disease. Perianal and enteroenteric are the most common forms of fistulas, whereas the involvement of the upper gastrointestinal tract with gastrocolic and duodenocolic fistulas represents an extremely unusual condition. Moreover, hyperthyroidism in association with Crohn’s disease has been rarely described.
We present here a rare case of a 25-year-old male with simultaneous onset of hyperthyroidism and fistulizing Crohn’s disease. Crohn’s disease was complicated with intra-abdominal fistulas involving the upper gastrointestinal tract (duodenocolic, gastrocolic) and an intra-peritoneal abscess formation in the lesser sac. We describe the clinical presentation and therapeutic management of the patient including both medical treatment and surgical intervention. Despite intense medical treatment with total parenteral nutrition, antibiotics, aminosalicylates and corticosteroids the clinical course of the disease was suboptimal. Finally, the patient underwent laparotomy and right hemi-colectomy with ileo-transverse anastomosis performed, with simultaneous drainage of the abdominal abscess and primary closure of the upper gastrointestinal tract openings (gastric, duodenal and jejunal) at one stage operation. Although the surgical approach definitively cured the perforating complications of the disease (fistulas and abscess), the luminal disease in the colon remnant was still active and steroid-refractory. The subsequent successful treatment with infliximab, azathioprine and mesalazine resulted in the induction and maintenance of the disease remission. Thyrotoxicosis was successfully treated with methimazole and the hyperthyroidism has definitely subsided.
The management of intra-abdominal fistulas in Crohn’s disease is a complex issue, requiring a multi-disciplinary approach and ‘tailoring’ of the treatment to the individual patient’s needs. Probably, a sensible approach involves early surgical intervention with prior optimization of the patient’s general condition when feasible. Common autoimmune mechanisms are probably involved in thyroid dysfunction associated with Crohn’s disease. Moreover, diagnosis and treatment of coexisting thyroid disorder in patients with Crohn’s disease has a favorable impact in disease prognosis.
Laparoscopic morcellation of the obstructed hemiuterus may be the preferred treatment of this congenital anomaly following failure of a surgical cervical fistula.
This is a case report (and review of the literature) of a 12-year and 10-month-old girl with a rare congenital anomaly of uterus didelphys, unilateral cervix aplasia, and ipsilateral renal aplasia. She had severe dysmenorrhea from the first menses. In an effort to preserve fertility, a cervical fistula was made that closed over. A laparoscopic hemi-hysterectomy was done successfully and rapidly with laparoscopic morcellation. Because no ureter was present, it was not necessary to trace it. For this congenital anomaly, laparoscopic morcellation of the obstructed hemiuterus is the preferred treatment either as a primary procedure or as a secondary procedure following failure of a surgical cervical fistula for the young patient.
Laparoscopic morcellation; Uterus didelphys; Cervix aplasia
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.
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.
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.
Excessively large lips represent an occasional but significant challenge in aesthetic surgery. Previously described techniques focus largely on the simple excision of a strip of tissue to reduce the lips, without specific attention to the resultant lip contour or to the volume relationship between the lips. The present paper describes a new technique for lip reduction, called the ‘bikini lip reduction’. This technique not only reduces the volume of the lips, but also restores an attractive labial contour, as well as an ideal volume relationship between the upper and lower lips. Because it is based on aesthetic analysis, this technique consistently yields both smaller and more aesthetically appealing lips. Simply stated, the bikini lip reduction consists of excision of a ‘bikini top’ (two cups and a middle strap) from the upper lip and a ‘bikini bottom’ (a triangle) from the lower lip. The aesthetic results and the patient satisfaction achieved through the bikini lip reduction technique have been very satisfactory.
Aesthetic lip reduction; Lip analysis; Lip hypertrophy; Lip reduction; Surgical technique
Actinomycotic infections are known to have an association with difficulties in diagnosis and treatment. These infections usually involve the head, neck, thorax, and abdomen. Actinomycosis of the upper lip is a rare condition and an important one as well, because it can imitate other diseases. As the initial impression, it can easily be mistaken for a mucocele, venous lake, or benign neoplasm. An 82-year-old man presented with an asymptomatic normal skin colored nodule on the upper lip. Histopathologic findings showed an abscess and sulfur granules in the dermis. Gram staining results showed a mesh of branching rods. In this report, we present an unusual case of actinomycosis of the upper lip and discuss its characteristics and therapeutic modalities.
Actinomycosis; Sulfur granules
Heterotopic gastric mucosa patches are congenital gastrointestinal abnormalities and have been reported to occur anywhere along the gastrointestinal tract from mouth to anus. Complications of heterotopic gastric mucosa include dysphagia, upper gastrointestinal bleeding, upper esophageal ring stricture, adenocarcinoma and fistula formation. In this case report we describe the diagnosis and treatment of the first case of esophago-bronchial fistula due to heterotopic gastric mucosa in mid esophagus. A 40-year old former professional soccer player was referred to our department for treatment of an esophago-bronchial fistula. Microscopic examination of the biopsies taken from the esophageal fistula revealed the presence of gastric heterotopic mucosa. We decided to do a non-surgical therapeutic endoscopic procedure. A sclerotherapy catheter was inserted through which 1 mL of ready to use synthetic surgical glue was applied in the fistula and it closed the fistula opening with excellent results.
Gastric heterotopy; Esophago-bronchial fistula; Ectopic gastric mucosa; Heterotopic gastric mucosa; Esophagus; Esophageal fistula therapy
Duane retraction syndrome (DRS) is a rare congenital strabismus condition with genetic heterogeneity. DRS associated with intellectual disability or developmental delay is observed in several genetic diseases: syndromes such as Goldenhar or Wildervanck syndrome and chromosomal anomalies such as 12q12 deletion. We report on the case of a patient with DRS, developmental delay and particular facial features (horizontal and flared eyebrows, long and smooth philtrum, thin upper lip, full lower lip and full cheeks). We identified a duplication of the long arm of chromosome 8 (8q12) with SNP-array. This is the third case of a patient with common clinical features and 8q12 duplication described in the literature. The minimal critical region is 1.2 Mb and encompasses four genes: CA8, RAB2, RLBP1L1 and CHD7. To our knowledge, no information is available in the literature regarding pathological effects caused by to overexpression of these genes. However, loss of function of the CHD7 gene leads to CHARGE syndrome, suggesting a possible role of the overexpression of this gene in the phenotype observed in 8q12 duplication patients. We have observed that patients with 8q12 duplication share a common recognizable phenotype characterized by DRS, developmental delay and facial features. Such data combined to the literature strongly suggest that this entity may define a novel syndrome. We hypothesize that CHD7 duplication is responsible for a part of the features observed in 8q12.2 duplication.
duane retraction syndrome; intellectual disability; 8q12 duplication; CHD7 gene; common facial features
Meckel's diverticulum is the most common congenital malformation of the gastrointestinal tract. It can cause complications in the form of ulceration, hemorrhage, intussusception, intestinal obstruction, perforation and, very rarely, vesicodiverticular fistulae as noted in six previously reported cases. 66-year-old woman was presented with an enterovesical fistula. Exploratory laparotomy revealed a vesico-diverticular fistula resulting from a perforated Meckel′s diverticulum. Pathologic examination revealed that the diverticulum did not contain ectopic gastric or pancreatic tissue. The patient underwent a diverticulectomy and had an uneventful postoperative course. Unlike four of the six previously reported cases, our patient had no coexisting bowel or bladder disease occurring with her vesico-diverticular fistula. Conclusion: This is only the third reported case of a vesico-diverticular fistula resulting from a perforated Meckel′s diverticulum that did not contain ectopic tissue.
Meckel's diverticulum; vesicoenteric fistula; surgery
Scoliosis as a late complication of thoracotomy has been described previously, but reports are rare. We present the case of a 22 year-old female referred for symptomatic scoliosis. Radiographs demonstrated a severe, structural, upper-thoracic scoliosis with associated right-sided rib fusions. Her medical history was noteworthy for a right posterolateral thoracotomy for repair of a tracheoesophageal fistula during infancy. Radiographs from her general surgical treatments during infancy demonstrated no congenital rib or vertebral anomalies. This report reviews her case in detail as well as the scarce literature available regarding scoliosis secondary to thoracotomy at a young age.
A congenital teratoid tumor arising and protruding through the mouth is classified as epignathus or fetus in fetu. On review of literature, we found various reports of midline mandibular and lower lip cleft associated with flexion contracture of neck, midline cervical cord, but there is only one report of association with midline dermoid. We present an unusual case of midline cleft of mandible with an epignathus. A 2.3-kg male child, delivered transvaginally in the 38th gestational week, was referred to us for management of a large irregular growth hanging outside the mouth. On examination, he had a wide median cleft of the mandible with tongue adherent to the “V”-shaped defect in the area of lower lip. A midline irregular mass of size 12 × 8 × 5 cm with variegated consistency was arising in the midline from the floor of the mouth between the tongue and lower lip. X-ray and computed tomography scan showed a rounded soft tissue mass arising from the alveolus with multiple calcifications within it along with a large triangular calcification and absence of hyoid bone. The mass was excised by mobilizing the tip of tongue. Staged repair was planned for the defect in the mandible. Unfortunately, the baby succumbed postoperatively to complex congenital heart disease. Histopathology was suggestive of epignathus. We discuss hereby the embryology and current management strategies of the problem.
Epignathus; Fetus in Fetu; Midline cleft mandible
Arterioportal fistula (APF) is a rare cause of portal hypertension and may lead to death. APF can be congenital, post-traumatic, iatrogenic (transhepatic intervention or biopsy) or related to ruptured hepatic artery aneurysms. Congenital APF is a rare condition even in children. In this case report, we describe a 73-year-old woman diagnosed as APF by ultrasonography, computed tomography, and hepatic artery selective arteriography. The fistula was embolized twice but failed, and she still suffered from alimentary tract hemorrhage. Then, selective arteriography of the hepatic artery was performed again and venae coronaria ventriculi and short gastric vein were embolized. During the 2-year follow-up, the patient remained asymptomatic. We therefore argue that embolization of venae coronaria ventriculi and short gastric vein may be an effective treatment modality for intrahepatic APF with severe upper gastrointestinal bleeding.
Congenital intrahepatic arterioportal fistula; Liver; Embolization; Portal hypertension; Angiography
Craniofacial skeletal development in eight human holoprosencephalic fetuses from second trimester abortions were examined by radiography and histology. The whole spectrum of associated facial malformations from anophthalmia through cyclopia, ethmocephaly, cebocephaly, and median cleft lip to short philtrum was represented. Cases with the most severe facial malformations also had the most severely affected facial skeleton. In the facial skeleton, the premaxilla was most often affected; it was absent in seven cases and malformed in the one with only a short philtrum. This and other facial skeletal malformations can be explained as abnormal fusion of the facial bones because of defective development of the nasal cartilage. The occipital bones were normal, but the basicranial skeleton anterior to the spheno-occipital junction was affected in all cases. The findings support the hypothesis that the facial malformations in holoprosencephaly result from disturbance in embryonal life of the mesoderm at the rostral end of the notochord.
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-β type I receptor Alk5 in the ectomesenchyme resulted in total facial clefting. While the role of Tgf–β signaling in palatal fusion is relatively well understood, its role in upper lip fusion remains unknown. In order to investigate a role for Tgf-β 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.
Tgf-β; cleft lip; Transforming growth factor-beta; Nes-Cre; development; mouse
Iatrogenic arteriovenous fistula is a vascular condition that may result from coronary angiography. Many case reports have described arteriovenous fistula occurrence after coronary angiography using the transfemoral access route, but rarely as a complication of using the transradial approach. We report a rare case of a patient with arteriovenous fistula following transradial artery coronary angiography.
A 62-year-old Caucasian man underwent emergent coronary angiography using the right radial artery approach. One month after angiography, he discovered a turbulent sound near the access site. A right radial arteriovenous fistula was found upon duplex ultrasound investigation. The patient was treated conservatively. At 1-year follow-up, the arteriovenous fistula was unchanged and the patient remained hemodynamically stable and asymptomatic.
Iatrogenic arteriovenous fistula is a rare vascular complication of transradial artery coronary angiography. The natural history of arteriovenous fistula is benign and is thought to resolve spontaneously; therefore, a conservative approach, as opposed to surgical ligation, is recommended as the first-line treatment.