Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018-2019.

We report on the location, symptoms, and management of plexiform neurofibroma (PN) in children with Neurofibromatosis Type 1 (NF1) attending the 2 National Complex Neurofibromatosis 1 Services at Guy's and St. Thomas' NHS Foundation Trust, London and St Mary's Hospital, Manchester. Retrospective data collection was performed from patient chart reviews from April 2018 to April 2019. There were 127 NF1 patients with PN, age range 0.8-17.0, mean age was 9.9 years (SD ± 4.2 years). The main location of the PN was craniofacial in 35%, and limb in 19%. Disfigurement was present in 57%, pain in 28%, impairment of function in 23%, and threat to function in 9% of children. Fifty-four percent of patients were managed conservatively, 28% surgically, and 19% are either taking or due to start a mitogen-activated protein kinase kinase (MEK) inhibitor (selumetinib or trametinib), either through a clinical trial or compassionate usage scheme. This national study provides a comprehensive overview of the management of children with PN in an era where new therapies (MEK inhibitors) are becoming more widely available. We anticipate that there will be a shift to more patients receiving MEK inhibitor therapy and combination therapy (surgery and MEK inhibitor) in the future.

Perioperative Blood Loss and Transfusion in Craniosynostosis Surgery.

Craniosynostosis has an incidence of 1 in 2000 to 2500 live births and may be corrected through several methods including total calvarial remodeling and frontal orbital advancement remodeling. Blood loss during craniosynostosis surgery can be substantial, ranging from 20% to 500% of total circulating volume with a high associated risk of transfusion-related adverse events. The authors performed a retrospective analysis of all patients undergoing surgery for craniosynostosis at a tertiary pediatric craniofacial center with a focus on blood loss and subsequent transfusion.The authors reviewed 40 patients with craniosynostosis >16 years at a single-center. Data on perioperative blood loss and transfusion were obtained, including pre-, intra-, and postoperative hemoglobin, hematocrit, and use of tranexamic acid. The authors calculated estimated percentage of circulating red cell volume lost and transfused.The majority of patients had sagittal synostosis and underwent total calvarial remodeling (n = 20); the rest underwent frontal orbital advancement remodeling (n = 19) or lambdoid correction (n = 1). The average estimated volume red cell loss was 77% of circulating volume and 90% of patients received blood transfusion with an average 88.3% transfusion of circulating red cell volume. Longer operative time, younger age, and lower weight predisposed to >50% blood volume transfusion (P = 0.032, <0.005, <0.005 respectively).This single-center observational study reports red cell volume loss and volume of transfusion in children undergoing surgical correction of craniosynostosis. Red cell volume loss was comparative to that in the literature and in this cohort longer operative time, younger age, and lower weight predisposed to >50% blood volume transfusion.

Metaphyseal dysplasia associated with chronic facial nerve palsy.

INTRODUCTION: Metaphyseal dysplasia (Pyle disease) is a rare autosomal recessive disease with impressive and characteristic radiological findings but relatively mild clinical features. It is usually incidentally diagnosed, despite the impressive radiological findings of gross metaphyseal widening and thinning of cortical bone. CASE REPORT: Herein, we report an exceptionally unusual case of metaphyseal dysplasia in association with chronic facial nerve palsy. DISCUSSION: Chronic facial nerve palsy due to compression of the facial nerve in a patient with Pyle disease represents an unusual novelty. Furthermore, this case delineates the clinical spectrum and phenotype of such a rare clinical entity. To the best of our knowledge, this is the first time that such an association is being described.

Facing The World in Vietnam: Feedback From Trainees on the Educational Value of Surgical Missions to Help Patients With Craniofacial Deformities.

BACKGROUND: Education and training of local healthcare staff is a crucial component of a surgical mission. Facing The World (FTW) is a UK-based craniofacial charity that provides facial reconstructive surgery to children with complex, craniofacial anomalies. As part of its global initiative, FTW has developed a training outreach program in Vietnam. The aim of this study was to analyze feedback data to evaluate the educational value of the training program and identify areas for improvement. METHODS: Feedback was obtained through both 5-point Likert scale and open-ended response questions on written questionnaires. Six postmission reports were reviewed, and used as a base for the content of the questionnaires. Selective sampling was used, with questionnaires distributed to all Vietnamese and UK trainees who have been part of the FTW training program. RESULTS: Seven Vietnamese trainee questionnaires were completed, a response rate of 87.5%. Twelve UK trainees completed the feedback questionnaire, giving a response rate of 85.7%. One hundred percent of local trainees and 83.3% of UK trainees found the training program to be useful or very useful, with no trainees deeming the training program not useful or of no use at all. CONCLUSION: The training missions offered by FTW have successfully provided education to both UK and Vietnamese surgeons in Craniofacial surgical techniques and patient care. No negative responses were identified in both questionnaires. The feedback provides evidence of FTW's effective training program, while allowing insight into where further improvements can be made.

Surgical correction for unilateral lambdoid synostosis: a systematic review.

BACKGROUND: Unilateral lambdoid synostosis is considered to be the rarest form of craniosynostosis. Since the introduction of the Sudden Infant Death Syndrome "back to sleep" campaign, the incidence of unilateral lambdoid synostosis was reportedly increasing. This was proven to be false and a consequence of non-specific diagnostic criteria in excluding suture fusion from deformational changes. This, in turn, led to ambiguity in the literature in terms of features and surgical correction in the 1980s to 1990s. OBJECTIVE OF REVIEW: We aimed to navigate the literature for true studies of unilateral lambdoid synostosis and examine the results of their surgical corrections. TYPE OF REVIEW: A systematic review with a defined search strategy. SEARCH STRATEGY: A search on MEDLINE and Google Scholar using strategy: (Unilateral AND ((lambdoid* AND Synostosis) OR (lambdoid* AND Craniosynostosis) OR (Posterior AND Plagiocephaly)) AND (Surgery). EVALUATION METHOD: Articles were reviewed, and data were compiled into tables for analysis. RESULTS: Seventeen studies were included in this review. A total of 188 patients with unilateral lambdoid synostosis were identified. No patients had major complications (venous sinus tear, neurologic injury, or cerebrospinal fluid leakage). Facial asymmetry was widely noted, and only limited improvement was achieved postoperatively. Auricular displacement was variable and often persisted despite surgery. Neurodevelopment did not deteriorate postoperatively and even improved in several patients. Endoscopic techniques revealed shorter periods of hospitalization, reduced mean estimated blood loss, and no blood transfusion requirements. The timing of surgery at 6 to 12 months was found to be the optimal balance in preventing deterioration in neurodevelopment and allowing favorable cranial growth and morphology. CONCLUSIONS: The current evidence is difficult to navigate because of deformational plagiocephaly being misdiagnosed as unilateral lambdoid synostosis. Despite this, we present the only systematic review of all truly identifiable cases of unilateral lambdoid synostosis. Long-term quantitative studies are required to assess the benefits of the various surgical procedures.

Endoscopic strip craniectomy with molding helmet therapy versus spring-assisted cranioplasty for nonsyndromic single-suture sagittal craniosynostosis: a systematic review.

OBJECTIVE: Endoscopic strip craniectomy with postoperative molding helmet therapy (ESC-H) and spring-assisted cranioplasty (SAC) are commonly used minimally invasive techniques for correction of nonsyndromic sagittal craniosynostosis, but it is unclear which, if either, is superior. Therefore, the authors undertook a systematic review to compare ESC-H with SAC for the surgical management of nonsyndromic single-suture sagittal craniosynostosis. METHODS: Studies were identified through a systematic and comprehensive search of four databases (Embase, MEDLINE, and two databases in the Cochrane Library). Databases were searched from inception until February 19, 2021. Pediatric patients undergoing either ESC-H or SAC for the management of nonsyndromic single-suture sagittal craniosynostosis were included. Systematic reviews and meta-analyses, single-patient case reports, mixed cohorts of nonsyndromic and syndromic patients, mixed cohorts of different craniosynostosis types, and studies in which no outcomes of interest were reported were excluded. Outcomes of interest included reoperations, blood transfusion, complications, postoperative intensive care unit (ICU) admission, operative time, estimated blood loss, length of hospital stay, and cephalic index. Pooled summary cohort characteristics were calculated for each outcome of interest. Methodological quality was assessed using the Newcastle-Ottawa Scale. The study was reported in accordance with the 2020 PRISMA statement. RESULTS: Twenty-two studies were eligible for inclusion in the review, including 1094 patients, of whom 605 (55.3%) underwent ESC-H and 489 (44.7%) underwent SAC for nonsyndromic sagittal craniosynostosis. There was no difference between the pooled estimates of the ESC-H and SAC groups for operative time, length of stay, estimated blood loss, and cephalic index. There was no difference between the groups for reoperation rate and complication rate. However, ESC-H was associated with a higher blood transfusion rate and higher postoperative ICU admission. CONCLUSIONS: The available literature does not demonstrate superiority of either ESC-H or SAC, and outcomes are broadly similar for the treatment of nonsyndromic sagittal craniosynostosis. However, the evidence is limited by single-center retrospective studies with low methodological quality. There is a need for international multicenter randomized controlled trials comparing both techniques to gain definitive and generalizable data.

The successful use of a bespoke OssDsign cranial plate to reconstruct an occipital defect following excision of a recurrent epithelioid sarcoma.

A cranioplasty has a number of known associated complications including infection for non-biological implants and bone flap resorption where autologous grafts are used. In recent years, bioactive ceramic cranial implants have been developed as a new reconstructive option. The OssDsign cranial plate (OssDsign AB, Uppsala, Sweden) was first introduced in 2010 and consists of an interconnected mosaic of hydroxyapatite tiles mounted onto a 3D-printed titanium mesh. Each tile is composed of a monetite, beta-calcium pyrophosphate, beta-tricalcium phosphate and brushite compound designed to mimic the process of coupled bone formation once implanted. This case presents a patient's journey from diagnosis of an epithelioid sarcoma over the posterior scalp and its management in the following 7 years. Initial excision of the lesion was reconstructed with a tissue expander and local rotational flap. Recurrence of the disease 3 years later was treated with a course of radical radiotherapy. Persistent osteomyelitis over the next 3 years resulted in chronic ulceration and exposed bone in the treated area. As the first part of a 3-stage treatment plan, two separate tissue expanders became infected. The multidisciplinary team therefore chose to use a bespoke OssDsign cranial plate combined with a deep inferior epigastric perforator (DIEP) free flap to provide a definitive single operative solution. The advantages over other reconstruction options include that the plate can be removed should further excision be required, greater potential for long-term integration with surrounding tissues and the ability to be soaked in antibiotic to reduce the risk of infection.

Multidisciplinary management of ankyloblepharon filiforme adnatum.

A female infant born at 41+6 weeks via emergency caesarean section due to failure to progress and maternal sepsis was found to have a small fibrous band connecting the upper and lower eyelids of the right eye. This was diagnosed as ankyloblepharon filiforme adnatum. The child was investigated for multisystemic malformations by the paediatric department, but none were found, and the partially fused right eyelid was dissected using microsurgical scissors to allow full opening of the eye. We summarise the management of a rare oculoplastic disorder.

Sight preserving orbital decompression: a novel multidisciplinary approach to managing severe proptosis in neurofibromatosis type 2.

We describe the importance of collaboration between multiple surgical specialties in managing a complex case of sight-threatening severe proptosis in a young woman with type 2 neurofibromatosis (NF2) complicated by pre-existing contralateral blindness. Trans-nasal and lateral orbital surgical approaches were aided by stereotactic navigation to debulk a large frontal/sphenoid wing meningioma, which had been exerting pressure onto the right globe and optic nerve. The patient made an excellent postoperative recovery along with preserved residual visual acuity, normal neurology and a good aesthetic outcome.

Congenital Temporomandibular Joint Ankylosis: Case Report and Literature Review.

Congenital temporomandibular joint (TMJ) ankylosis is an uncommon condition that presents itself at or soon after birth in the absence of acquired factors that could have contributed to the ankylosis such as infection and trauma. The experience of managing one such case is reported in light of a review of the literature on this condition. Key management principles include adequate removal of the ankylotic mass, costochondral grafting, and post-op physiotherapy. Most patients reported in the literature with the condition experienced relapse. This echoes our own experience where there was recurrence of the ankylosis. However, after removal of the ankylotic mass, the patient maintains a satisfactory maximal incisal opening (MIO) till the present day. The additional challenges faced in the congenital form in addition to the already complex management of acquired paediatric temporomandibular joint ankylosis are (1) much earlier insult to the TMJ, (2) reduced opportunity for neuromuscular development of the muscles of mastication, and (3) reduced compliance with postoperative physiotherapy programmes due to the younger age of these patients.

Reconstruction of pharyngolaryngectomy defects using the jejunal free flap: a 10-year experience from a single reconstructive center.

BACKGROUND: Reconstruction following pharyngolaryngectomy presents a complex reconstructive challenge, and a single-stage, reliable reconstruction allowing prompt discharge from the hospital and return of swallowing and speech function is required. The authors present their 10-year experience of 43 jejunal free flaps for pharyngolaryngectomy reconstruction by a single team and outline their operative algorithm to minimize postoperative morbidity. METHODS: The data for patients who underwent jejunal free flap reconstruction of circumferential pharyngoesophageal defects between March of 2000 and September of 2009 were reviewed retrospectively. All cases were included for analysis. RESULTS: There were 31 male patients and 12 female patients, with 100 percent acute flap survival. The authors' overall benign pharyngocutaneous fistula rate was two of 43 (5 percent), with two of 29 (7 percent) occurring in the group without a prophylactic pectoralis muscle flap and zero of 14 occurring in the group that had a prophylactic pectoralis muscle flap. No fistulas occurred when the anastomosis was performed with the gastrointestinal stapler (zero of 48). The authors' overall benign stricture rate was six of 43 (14 percent). Thirty-six patients received either a primary or secondary tracheoesophageal puncture; of these, 28 of 36 (78 percent) used their tracheoesophageal puncture as their primary mode of communication. CONCLUSION: The authors' recommendations for minimizing fistulas and stricture rate, following free jejunal reconstruction, include the gastrointestinal stapler for bowel anastomosis whenever possible, and the use of a prophylactic pedicled pectoralis major muscle flap for patients exposed to previous radiotherapy.

A method to select patients for vertical scar or inverted-T pattern breast reduction.

Vertical scar breast reduction (VSBR) is an increasingly popular technique but can carry a high complication and revision rate. We evaluate our complication rate when selecting patients for VSBR or inverted-T breast reductions (ITBR). We looked at 133 consecutive primary bilateral breast reductions performed by a single consultant from 1998 to 2003 (23 incomplete records). VSBR (82 breasts) and ITBR (120 breasts) were performed, with glandular or superomedial pedicle transposition of the nipple-areola complex (NAC), or free nipple grafts (FNG) (18 breasts). The pattern of skin excision chosen was determined by the degree of skin shrinking required to achieve the correct vertical height of the new breast. If the measurement from the inframammary fold to the lower border of the new areola position was < 18 cm the patient underwent VSBR. We assessed complication and revision rates in each group. The complication rate (haematoma, infection, delayed healing, nipple/fat necrosis) in VSBR was 11%, in ITBR 23% (P<0.05). Revision rate was 2.4% in the VSBR and 3.3% in ITBR group. The VSBR had no problem scars, while the ITBR produced problem scars in 16% of operated breasts (P<0.001). We feel it is possible to reduce skin to 40-50% of its original length. Attempting a greater degree of shrinkage produces a high rate of revision surgery. We suggest a method of selection of technique by a reproducible measurement of the vertical skin reduction to produce a low complication rate and low revision rate.

Metastatic ductal eccrine adenocarcinoma masquerading as an invasive ductal carcinoma of the male breast.

We report the case of a 38-year-old man with metastatic ductal eccrine adenocarcinoma (DEA) of the left breast responding to 5-flourouracil, epirubicin and cyclophosphamide (FEC) chemotherapy. He initially presented with a 2-week history of difficulty walking because of bilateral hip and lower back pain. Examination showed an ulcerating cutaneous mass over the left anterior chest wall, left axillary lymphadenopathy and tenderness over the spine. A punch biopsy of the breast lesion resulted in a diagnosis of metastatic invasive ductal carcinoma (IDC) of the breast. He received palliative radiotherapy to the spine and also received six cycles of FEC chemotherapy and was subsequently commenced on tamoxifen and ibandronate. There was a symptomatic and radiological response to the FEC chemotherapy. Referral was subsequently made to our institution where the original punch biopsy was reviewed. This showed tumor cells that were polygonal with darkly stained pleomorphic nuclei and abundant eosinophilic cytoplasm and were also localized to areas of fibrotic stroma containing eccrine glands and ducts but did not appear to involve mammary tissue. Immunohistochemical studies showed the tumors to be cytokeratin 7 and gross cystic disease fluid protein-15/prolactin inducible protein negative and estrogen receptor alpha positive. Both the morphological and the immunohistochemical characteristics of the tumor were consistent with a revised diagnosis of DEA rather than IDC. When last reviewed, the patient remains pain free and his disease stable 17 months after his original presentation. This case emphasizes the challenge in discriminating histopathologically between two rare tumors of the male breast, namely DEA and IDC. In addition, clinical response to FEC by metastatic DEA has not been previously documented, and this therapeutic regimen warrants further investigation.