Combined transnasal/transoral endoscopic odontoid resection in pediatric patients: Otolaryngologic considerations to airway management, endoscopic exposure, and complication management.

BACKGROUND: Anterior brainstem compression from odontoid pathology can occur in patients with craniocervical disorders. Occasionally, odontoid resection is required. In adults, odontoid resection has evolved toward transnasal-only endoscopic techniques. Pediatric patients, however, pose special challenges due to abnormal anatomy and smaller working spaces. A combined transnasal/transoral endoscopic odontoid resection (TN/TO EOR) can overcome this limitation. We present a case series with emphasis on otolaryngologic considerations to airway management, endoscopic approach, and management of complications. METHODS: A single center, retrospective review of patients aged ≤18 undergoing combined transnasal/transoral endoscopic odontoid resection between 2011 and 2022 is presented. Clinical and surgical variables consisting of diagnosis, intubation approach, other airway procedures performed, symptoms, complications, blood loss, and time to extubation, return to oral feeding, and discharge were recorded. RESULTS: 19 patients aged 10.7 ± 4.3 (range: 3-18) were included. Diagnoses included congenital syndrome (n = 6), complex Chiari malformation (n = 11), and congenital syndrome with Chiari (n = 2). Patients commonly required indirect videolaryngoscopy for intubation, with or without fiberoptic endoscopic assistance. Seven underwent adenoidectomy, two underwent adenotonsillectomy, and one required adenoidectomy with midline palatal split and inferior turbinate outfracture. Four patients had undergone prior adenotonsillectomy. Presenting symptoms included extremity weakness (n = 9), dysphagia (n = 8), velopharyngeal insufficiency (n = 4), sleep disturbance (n = 5), and headaches (n = 8). Four patients had complications, including one re-operation for residual odontoid, one flap dehiscence, one cerebrospinal fluid (CSF) leak repaired primarily, and one complicated course including temporary spinal cord injury. Blood loss was 50 ± 43 cc (median 30). Time to extubation was 1.1 ± 2.1 days (median 0; one patient underwent tracheotomy for respiratory failure), time to oral intake was 2.9 ± 3.7 days (median 1), and time to discharge was 7.1 ± 7.5 days (median 4). CONCLUSIONS: A combined transnasal/transoral approach can be successfully used in pediatric patients to overcome difficult endoscopic access. Although complications exist, early extubation and return to oral intake occurs in the vast majority of cases. For pediatric TN/TO EOR, the otolaryngologist plays a key role in preoperative assessment, airway management, endoscopic exposure, and complication management.

Comparing ATA guidelines vs TI-RADS for evaluation of pediatric thyroid lesions.

OBJECTIVE: To compare TI-RADS vs ATA guidelines for pediatric thyroid lesions based on ultrasound, in a retrospective study over 10 years. The primary outcome measure was sensitivity of both guidelines in diagnosing a thyroid malignancy on Fine Needle Aspiration (FNA) results. METHODS: Retrospective data collection of all pediatric patients who had an FNA at the Primary Children's Hospital for thyroid lesions. Both guidelines were compared to determine which set of guidelines is most sensitive based on final outcome of pathology. RESULTS: Seventy-seven patients were included in the study. All 77 underwent FNA as recommended by the ATA guidelines. 54.5% were benign, 22.1% were suspicious, and 23.4% were malignant lesions. Following the TI-RADS guidelines, 40.5% of these patients could have skipped the FNA. Using the ATA guidelines, all malignant lesions would have undergone FNA. However, using the TI-RADS guidelines, some patients with malignant lesions would have been ignored (5.6%) and some followed (22.2%) showing overall less sensitivity (75%). CONCLUSIONS: The ATA ultrasound guidelines for evaluation of thyroid nodules in children are more sensitive in screening for well-differentiated thyroid malignancy. Increased sensitivity is due in part to the size constraint within the TIRADS system. All providers who evaluate thyroid nodules in children should use the ATA pediatric guidelines to avoid missing smaller malignancies in children.

Endoscopic transnasal/transoral odontoid resection in children: results of a combined neurosurgical and otolaryngological protocolized, institutional approach.

OBJECTIVE: Odontogenic ventral brainstem compression can be a source of significant morbidity in patients with craniocervical disease. The most common methods for odontoidectomy are the transoral and endoscopic endonasal routes. In this study, the authors investigated the use of an institutional protocol for endoscopic transnasal/transoral odontoidectomy in the pediatric population. METHODS: From 2007 to 2017, a multidisciplinary institutional protocol was developed and refined for the evaluation and treatment of pediatric patients requiring odontoidectomy. Preoperative assessment included airway evaluation, a sleep study (if indicated), discussion of possible tonsillectomy/adenoidectomy, and thorough imaging review by the neurosurgery and otolaryngology teams. Further preoperative anesthesia consultation was obtained for difficult airways. Intraoperatively, adenoidectomy was performed at the discretion of otolaryngology. The odontoidectomy was performed as a combined procedure. Primary posterior pharyngeal closure was performed by the otolaryngologist. The postoperative protocol called for immediate extubation, advancement to a soft diet at 24 hours, and no postoperative antibiotics. Outcome variables included time to extubation, operative time, estimated blood loss, hospital length of stay, and postoperative complications. RESULTS: A total of 13 patients underwent combined endoscopic transoral/transnasal odontoid resection with at least 3 years of follow-up. All patients had stable to improved neurological function in the postoperative setting. All patients were extubated immediately after the procedure. The average operative length was 201 ± 46 minutes, and the average estimated blood loss was 44.6 ± 40.0 ml. Nine of 13 patients underwent simultaneous tonsillectomy and adenoidectomy. The average hospital length of stay was 6.6 ± 5 days. The first patient in the series required revision surgery for removal of a small residual odontoid. One patient experienced pharyngeal flap dehiscence requiring revision. CONCLUSIONS: A protocolized, institutional approach for endoscopic transoral/transnasal odontoidectomy is described. The use of a combined, multidisciplinary approach leads to streamlined patient management and favorable outcomes in this complex patient population.

Radiofrequency Ablation vs Electrocautery Blinded Randomized Trial: Impact on Clinically Meaningful Outcomes.

OBJECTIVE: To analyze patients' return to normal activity, pain scores, narcotic use, and adverse events after undergoing tonsillectomy or adenotonsillectomy with monopolar electrocautery or radiofrequency ablation. STUDY DESIGN: Randomized double-blinded clinical trial based on prospective parallel design. SETTING: Academic medical center and tertiary children's hospital between March 2018 and July 2019. METHODS: Inclusion criteria included patients aged ≥3 years with surgical indication of recurrent tonsillitis or airway obstruction/sleep-disordered breathing. Patients were randomly assigned to monopolar electrocautery or radiofrequency ablation. Patients were blinded to treatment assignment. Survey questions answered via text or email were collected daily until postoperative day 15. The primary outcome was the patient's return to normal activity. Secondary outcomes included daily pain score, total amount of postoperative narcotic use, and adverse events. RESULTS: Of the 236 patients who met inclusion criteria and were randomly assigned to radiofrequency ablation or monopolar electrocautery, 230 completed the study (radiofrequency ablation, n = 112; monopolar electrocautery, n = 118). There was no statistically significant difference between the groups in the number of days for return to normal activity (P = .89), daily pain scores over 15 postoperative days (P = .46), postoperative narcotic use (P = .61), or return to hospital for any reason (P = .60), including bleeding as an adverse event (P = .13). CONCLUSIONS: As one of the largest randomized controlled trials examining instrumentation in tonsillectomy, our data do not show a difference between monopolar electrocautery and radiofrequency ablation with regard to return to normal activity, daily pain scores, total postoperative narcotic use, or adverse events.

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.

RASA1-related disorders are vascular malformation syndromes characterized by hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM), arteriovenous fistulas (AVF), or Parkes Weber syndrome. The number of cases reported is relatively small; and while the main clinical features are CMs and AVMs/AVFs, the broader phenotypic spectrum caused by variants in the RASA1 gene is still being defined. Here, we report the clinical and molecular findings in 69 unrelated cases with a RASA1 variant identified at ARUP Laboratories. Sanger sequencing and multiplex ligation-dependent probe amplification were primarily used to evaluate RASA1. Several atypical cases were evaluated using next-generation sequencing (NGS) and array-comparative genomic hybridization (aCGH). Sixty individuals had a deleterious RASA1 variant of which 29 were novel. Nine individuals had a variant of uncertain significance. Five large RASA1 deletions were detected, giving an overall deletion/duplication rate of 8.3% (5/60) among positive cases. Most (75.4%) individuals with a RASA1 variant had CMs, and 44.9% had an AVM/AVF. Clinical findings in several cases expand the RASA1 phenotype. Our data suggest that screening for large RASA1 deletions and duplications in this disorder is important and suggest that NGS multi-gene panel testing is beneficial for the molecular diagnosis of cases with complex vascular phenotypes.

Effect of Heliox on Respiratory Outcomes during Rigid Bronchoscopy in Term Lambs.

Objective To (1) compare physiologic changes during rigid bronchoscopy during spontaneous and mechanical ventilation and (2) evaluate the efficacy of a helium-oxygen (heliox) gas mixture as compared with room air during rigid bronchoscopy. Study Design Crossover animal study evaluating physiologic parameters during rigid bronchoscopy. Outcomes were compared with predicted computational fluid analysis. Setting Simulated ventilation via computational fluid dynamics analysis and term lambs undergoing rigid bronchoscopy. Methods Respiratory and physiologic outcomes were analyzed in a lamb model simulating bronchoscopy during foreign body aspiration to compare heliox with room air. The main outcome measures were blood oxygen saturation, heart rate, blood pressure, partial pressure of oxygen, and partial pressure of carbon dioxide. Computational fluid dynamics analysis was performed with SOLIDWORKS within a rigid pediatric bronchoscope during simulated ventilation comparing heliox with room air. Results For room air, lambs desaturated within 3 minutes during mechanical ventilation versus normal oxygen saturation during spontaneous ventilation ( P = .01). No improvement in respiratory outcomes was seen between heliox and room air during mechanical ventilation. Computational fluid dynamics analysis demonstrates increased turbulence within size 3.5 bronchoscopes when comparing heliox and room air. Meaningful comparisons could not be made due to the intolerance of the lambs to heliox in vivo. Conclusion During mechanical ventilation on room air, lambs desaturate more quickly during rigid bronchoscopy on settings that should be adequate. Heliox does not improve ventilation during rigid bronchoscopy.

Predictors of complicated airway foreign body extraction.

OBJECTIVES: To evaluate outcomes of foreign body aspiration (FBA) and to investigate surgeon and hospital volume as risk factors for a complicated course. STUDY DESIGN: Retrospective case series. METHODS: Children with FBA in a multihospital network were identified from January 2005 to September 2015. Demographic information, surgeon, and hospital location were reviewed. Mean operative time and hospital length of stay were recorded. Cases requiring intensive care unit admission, hospital stay greater than 24 hours, need for more than one bronchoscopy, operative time greater than 1 hour, or death were considered "complicated." RESULTS: A total of 450 cases of airway foreign body extraction were performed. Patient ages ranged from 0.6 to 18.8 years, with a median age of 1.9 years. Bronchoscopy with foreign body extraction was performed by 55 different surgeons at 11 different facilities. There were one to 24 surgeons for each facility, with an average number of 5.4 surgeons per facility. A total of 88 (19.6%) cases were considered complicated, including five (1.1%) deaths. Increased rates of complications were seen with unwitnessed aspiration (P = 0.008) and hyperlucency (P < 0.001) or infiltrates (P = 0.001) on chest radiographs. No significant association was found between surgeon type or facility as related to a complicated case. CONCLUSIONS: Unwitnessed aspiration events and abnormalities on chest radiograph may be associated with a more complicated course in children with FBA. This multihospital study identified a low number of procedures by many surgeons; however, surgeon and hospital volume did not significantly correlate with higher complication rates. LEVEL OF EVIDENCE: 4. Laryngoscope, 128:490-495, 2018.

Reversible profound sensorineural hearing loss due to propranolol sensitive hemangioma in an infant with PHACE syndrome.

PHACE syndrome is the association of large or segmental infantile hemangiomas of the face or scalp with abnormalities within the posterior fossa, arteries, cardiovascular system, and eyes. We present a case of reversible profound sensorineural hearing loss due to a cerebellopontine angle infantile hemangioma that was successfully treated with propranolol.

Education on, Exposure to, and Management of Vascular Anomalies During Otolaryngology Residency and Pediatric Otolaryngology Fellowship.

IMPORTANCE: The field of vascular anomalies presents diverse challenges in diagnosis and management. Although many lesions involve the head and neck, training in vascular anomalies is not universally included in otolaryngology residencies and pediatric otolaryngology (POTO) fellowships. OBJECTIVE: To explore the education in, exposure to, and comfort level of otolaryngology trainees with vascular anomalies. DESIGN, SETTING, AND PARTICIPANTS: A survey was distributed to 39 POTO fellows and 44 residents in postgraduate year 5 who matched into POTO fellowships from April 22 through June 16, 2014. MAIN OUTCOMES AND MEASURES: Survey responses from trainees on exposure to, education on, and comfort with vascular anomalies. RESULTS: Forty-four residents in postgraduate year 5 who applied to POTO fellowships and 39 POTO fellows were emailed the survey. Fourteen respondents were unable to be contacted owing to lack of a current email address. Thirty-six of 69 residents and fellows (18 fellows and 18 residents [52%]) responded to the survey. Twenty-seven trainees (75%) reported no participation in a vascular anomalies clinic during residency; 6 of these 27 individuals (22%) trained at institutions with a vascular anomalies clinic but did not participate in the clinic, and 28 of the 36 respondents (78%) reported that they had less than adequate or no exposure to vascular anomalies in residency. Among POTO fellows, 11 of 17 (65%) did not participate in a vascular anomalies clinic during fellowship, even though 8 of the 11 had a vascular anomalies clinic at their fellowship program. During fellowship training, 12 of 18 fellows (67%) reported that they had adequate exposure to vascular anomalies. Only 20 respondents (56%) felt comfortable distinguishing among diagnoses of vascular anomalies, and only 4 residents (22%) and 9 fellows (50%) felt comfortable treating patients with vascular anomalies. All fellows believed that training in vascular anomalies was important in fellowship, and 100% of respondents indicated that increased exposure to diagnosis and management of vascular anomalies would have been beneficial to their ability to care for patients. CONCLUSIONS AND RELEVANCE: These data indicate that most otolaryngology trainees do not receive formal training in vascular anomalies in residency and that such training is valued among graduating trainees. Conversely, most POTO fellows felt their exposure was adequate and 50% of fellows felt comfortable treating vascular anomalies. However, 65% of POTO fellows had no participation in a vascular anomalies clinic, where many patients are managed by a multidisciplinary team. This finding may indicate that POTO fellows may have a false sense of confidence in managing patients with vascular anomalies and that residency and fellowship programs may consider changes in didactic and clinical programs.

Association between follicular tracheitis and gastroesophageal reflux.

OBJECTIVE: Follicular tracheitis (also known as tracheal cobblestoning) is an entity that is poorly described and of unclear significance. The objective of this study was to better define follicular tracheitis and determine the association between the clinical finding of follicular tracheitis on bronchoscopy and objective evidence of gastroesophageal reflux disease. METHODS: Retrospective chart review of children with recurrent croup having undergone a rigid bronchoscopy and an investigation for gastroesophageal reflux between 2001 and 2013. RESULTS: 117 children with recurrent croup children age 6-144 months were included in the study. Follicular tracheitis was noted on 41% of all bronchoscopies. Fifty-nine percent of all children who underwent bronchoscopy were diagnosed with gastroesophageal reflux on at least one investigation. Forty-nine of 117 children underwent a pH probe study, and 51% were found to have evidence of reflux on this study. Nine children were diagnosed with eosinophilic esophagitis. Three patients underwent a biopsy of the follicular tracheitis lesions, which revealed chronic inflammation. There was no evidence of an association between findings of follicular tracheitis and a positive test for gastroesophageal reflux (p=0.52) or a positive pH probe study (p=0.64). There was no association between follicular tracheitis and subglottic stenosis (p=0.33) or an history of asthma and/or atopy (p=0.19). CONCLUSION: In children with recurrent croup, follicular tracheitis remains an unspecific finding associated with an inflammatory disorder of unknown etiology.

Flow dynamics in pediatric rigid bronchoscopes using computer-aided design modeling software.

OBJECTIVES/HYPOTHESIS: Observed complications during rigid bronchoscopy, including hypercarbia and hypoxemia, prompted us to assess how well rigid bronchoscopes serve as an airway device. We performed computer-aided design flow analysis of pediatric rigid bronchoscopes to gain insight into flow dynamics. STUDY DESIGN: We made accurate three-dimensional computer models of pediatric rigid bronchoscopes and endotracheal tubes. SOLIDWORKS (Dassault Systemes, Vélizy-Villacoublay, France) flow analysis software was used to analyze fluid dynamics during pressure-controlled and volume-controlled ventilation. METHODS: Flow analysis was performed on rigid bronchoscopes and similar outer diameter endotracheal tubes comparing resistance, flow, and turbulence during two ventilation modalities and in common surgical scenarios. RESULTS: Increased turbulent flow was observed in bronchoscopes compared to more laminar flow in endotracheal tubes of similar outer diameter. Flow analysis displayed higher resistances in all pediatric bronchoscope sizes except one (3.0 bronchoscope) compared to similar-sized endotracheal tubes. Loss of adequate ventilation was observed if the bronchoscope was not assembled correctly or if increased peak inspiratory pressures were needed. Anesthesia flow to the patient was reduced by 63% during telescope insertion. CONCLUSIONS: Flow analysis illustrates increased turbulent flow and increased airflow resistance in all but one size of pediatric bronchoscopes compared to endotracheal tubes. This increased turbulence and resistance, along with the unanticipated gas distal exit pattern, may contribute to the documented hypercarbia and hypoxemia during procedures. These findings may explain why hypoxemia and hypercarbia are commonly observed during rigid bronchoscopy, especially when positive pressure ventilation is needed. LEVEL OF EVIDENCE: NA Laryngoscope, 126:1940-1945, 2016.

Genetic Variants Associated with Port-Wine Stains.

BACKGROUND: Port-wine stains (PWS) are capillary malformations, typically located in the dermis of the head and neck, affecting 0.3% of the population. Current theories suggest that port-wine stains are caused by somatic mutations that disrupt vascular development. OBJECTIVES: Understanding PWS genetic determinants could provide insight into new treatments. METHODS: Our study used a custom next generation sequencing (NGS) panel and digital polymerase chain reaction to investigate genetic variants in 12 individuals with isolated port-wine stains. Importantly, affected and healthy skin tissue from the same individual were compared. A subtractive correction method was developed to eliminate background noise from NGS data. This allowed the detection of a very low level of mosaicism. RESULTS: A novel somatic variant GNAQ, c.547C>G, p.Arg183Gly was found in one case with 4% allele frequency. The previously reported GNAQ c.548G>A, p.Arg183Gln was confirmed in 9 of 12 cases with an allele frequency ranging from 1.73 to 7.42%. Digital polymerase chain reaction confirmed novel variants detected by next generation sequencing. Two novel somatic variants were also found in RASA1, although neither was predicted to be deleterious. CONCLUSIONS: This is the second largest study on isolated, non-syndromic PWS. Our data suggest that GNAQ is the main genetic determinant in this condition. Moreover, isolated port-wine stains are distinct from capillary malformations seen in RASA1 disorders, which will be helpful in clinical evaluation.

Standardized outcome and reporting measures in pediatric head and neck lymphatic malformations.

OBJECTIVE: To develop general and site-specific treatment effect and outcome measures to standardize the reporting of head and neck lymphatic malformation (HNLM) treatments. STUDY DESIGN: Consensus statement/expert opinion. SETTING: Multiple tertiary academic institutions. SUBJECTS AND METHODS: The modified Delphi method is an iterative process of collecting expert opinions, refining opinions through discussion and feedback, statistically aggregating opinions, and using these aggregates to generate consensus opinion in the absence of other data. The modified Delphi method was used by a multi-institutional group of otolaryngology and interventional radiology experts in the field of vascular anomalies to formulate a list of recommended reporting outcomes for the study and treatment of head and neck lymphatic malformations. RESULTS: Through 3 rounds of iteration, 10 expert panelists refined 98 proposed outcome measures and 9 outcome categories to a final consensus set of 50 recommended outcome measures in 3 global categories (general, demographics, and treatment complications) and 5 site-specific categories (orbit, oral cavity, pharynx, larynx, and neck). CONCLUSIONS: We propose the first consensus set of standardized reporting measures for clinical and treatment outcomes in studies of HNLMs. Consistent outcome measures across future studies will facilitate comparison of treatment options and allow systematic review. We hope that these guidelines facilitate the design and reporting of subsequent HNLM studies.

The effect of age on pediatric tympanoplasty outcomes: a comparison of preschool and older children.

OBJECTIVES: Determine whether the outcome of tympanoplasty in preschool children is different from that of older children. STUDY DESIGN: Retrospective case series. METHODS: Retrospective review of children having undergone a primary tympanoplasty by 4 surgeons for a tympanic membrane perforation between 2002 and 2013. RESULTS: Data from 50 children age 2-4, 130 children age 5-7 and 105 children age 8-13 years old were reviewed. Median follow-up was 7.5 months. On crude analysis, the incidence of anatomical success was not significantly different between the different age groups (p=0.38), the success rate was respectively 69.4%, 68.5% and 79.1% with an overall rate of 72.5%. 5.9% of all children required later insertion of tympanostomy tubes, 10.2% in preschool children. The post-operative audiology results were similar for all groups with a mean improvement of 9dB in the air-bone gap. When limiting the analysis to the 155 children having at least 6 months of follow-up, the rate of success was respectively 50.0%, 60.8% and 74.0% (p=0.10). After multivariate analysis controlling for the effect of surgeon, approach and etiology, the odds ratio of perforation was respectively 5.48, 2.27 and 1.00 for the different age groups. CONCLUSION: Children younger than 4 years of age have the worst outcome after tympanoplasty. It remains uncertain whether the benefits of hearing improvement and quality of life may outweigh that of a high rate of a residual, usually smaller, perforation. Prospective studies are needed to confirm these results and delineate the patient characteristics and technique most likely to lead to successful results.

Surgical treatment of vascular malformations of the facial bones.

PURPOSE: To characterize intraosseous vascular malformations and describe the most appropriate approach for treatment according to clinical experience and a review of the published data. MATERIALS AND METHODS: We performed a retrospective review of 11 vascular malformations (7 venous and 4 arteriovenous) of the facial bones treated during a 10-year period using en bloc resection or intraoral aggressive curettage alone or preceded by endovascular embolization. Corrective surgery was planned to address any residual bone deformities. The cases were reviewed at a mean follow-up point of 6 years. RESULTS: Facial symmetry was restored in the cases requiring reconstruction. Tooth sparing was possible in the case of jaw and/or maxillary localization. Recanalization occurred in 14% of the venous and 33% of the arteriovenous malformations. CONCLUSIONS: Facial intraosseous venous malformations can be successfully treated using surgery alone. Facial intraosseous arteriovenous malformations will be better addressed using combined approaches. Aggressive curettage will obviate the need for extensive surgical resection in selected cases.

Treatment of oral cavity venous malformations with the Nd:YAG laser using the underwater technique.

Mucosal involvement of venous malformations can cause bleeding, pain, and functional impairment. Treatment options include surgery, sclerotherapy, or laser therapy. Neodymium:yttrium aluminum garnet (Nd:Yag) laser therapy has been used to treat mucosal disease, but few studies have focused purely on the oral cavity. We present a retrospective review of 4 patients (5 subsites) with oral cavity venous malformations treated with the Nd:YAG laser using an underwater technique. Photographs of the venous malformations before and after treatment were evaluated by 2 blinded physicians. A visual analog scale was used to rate the treatment. The medical record was reviewed to assess change in symptoms and to note complications. Four sites were rated as having "significant improvement" and 1 site as "some improvement." Our study demonstrates that the Nd:YAG laser can be a feasible option in the treatment of venous malformations of the oral cavity.

Propranolol use for infantile hemangiomas: American Society of Pediatric Otolaryngology Vascular Anomalies Task Force practice patterns.

IMPORTANCE: This study provides multi-institutional practice guidelines for the initiation of propranolol hydrochloride treatment of routine infantile hemangiomas. OBJECTIVE: To provide information on current propranolol treatment practices for infantile hemangiomas among a cohort of pediatric otolaryngologists. DESIGN AND SETTING: A survey for initiation of propranolol therapy was created by the American Society of Pediatric Otolaryngology Vascular Anomalies Task Force Subcommittee. After an initial pilot of the survey by 4 task force members, the survey was modified and then distributed by e-mail. Results were transferred to spreadsheet format and analyzed. PARTICIPANTS: All 51 members of the task force. RESULTS: A total of 18 respondents from 15 institutions submitted completed surveys. Data from respondents at the same institution were aggregated and/or averaged to minimize regional bias. Fourteen of 15 responding institutions (93%) treat patients with infantile hemangioma as part of a multidisciplinary vascular anomalies team. Ten institutions (67%) routinely consult cardiology before initiation of propranolol therapy. The median propranolol hydrochloride initiation dosage is 2.00 (mean [SD], 1.65 [0.64]; range, 0.45-2.50) mg/kg/d. Postinitiation monitoring for propranolol therapy includes blood pressure (15 of 15 respondents [100%]), serum glucose levels (7 of 15 [47%]), and pulse oximetry (2 of 15 [13%]). Only 2 institutions routinely admit all patients for initiation of propranolol therapy. Typical duration of therapy ranges from 4 to 8 (5 of 15 [33%]) or 8 to 12 months (10 of 15 [67%]), and cessation of therapy in most cases is based on the clinical response (7 of 14 [50%]) or the age of the patient (6 of 14 [43%]). CONCLUSIONS AND RELEVANCE: Propranolol is a commonly used medication for the treatment of infantile hemangiomas among otolaryngologists in the Vascular Anomalies Task Force. Propranolol therapy is commonly initiated in the outpatient setting and continued for as long as 12 months.

The genetics of vascular anomalies.

PURPOSE OF REVIEW: To summarize clinically relevant findings in the genetic cause and gene expression of vascular anomalies. RECENT FINDINGS: Infantile hemangioma demonstrates familial clustering and is associated with atopic disease. Variable gene expression is seen in infantile hemangioma during proliferation and involution. Capillary malformation may be sporadic or inherited in an autosomal dominant pattern. Capillary malformation-arteriovenous malformation is caused by mutation in RASA1. Some inherited forms of lymphedema are due to mutation in VEGFR3. Venous malformation may be sporadic, paradominant, or autosomal dominant inheritance. Autosomal dominantly inherited forms of venous malformation are due to mutations in TIE2/TEK. Additionally, TIE2 somatic mutations have been identified in about half of sporadic venous malformations. SUMMARY: Multiple genes have been identified causing inherited forms of vascular anomalies including capillary malformations, venous malformations and lymphedema. Variable gene expression of infantile hemangioma during proliferation and involution may offer new therapeutic targets for treatment.

Candidate locus analysis for PHACE syndrome.

PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33. In order to further analyze this region, SLC35B4 was sequenced for 33 individuals with PHACE syndrome and one parental set. Common polymorphisms with a possible haplotype but no disease causing mutation were identified. Sixteen of 33 samples of the PHACE syndrome patients were also analyzed for copy number variations using high-resolution oligo-comparative genomic hybridization (CGH) microarray. A second individual in this cohort had a 26.5 kb deletion approximately 80 kb upstream of SLC35B4 with partial deletion of the AKR1B1 on 7q33. The deletions observed on 7q33 are not likely the singular cause of PHACE syndrome; however, it is possible that this region provides a genetic susceptibility to phenotypic expression with other confounding genetic or environmental factors.

Hemangioma is associated with atopic disease.

OBJECTIVE: To determine if atopic disease is associated with infantile hemangioma. STUDY DESIGN: Case control study. SETTING: State of Utah inpatient and outpatient records obtained from the Department of Health, Intermountain Healthcare medical records, and the University of Utah Health Care medical records using the Utah Population Database. SUBJECTS: Patients given an International Classification of Diseases, Ninth Revision diagnosis of hemangioma prior to age 5 years, from 1991 to 2009. METHODS: Allergy, asthma, and eczema rates in the hemangioma cohort compared to randomly matched controls using logistic regression analysis. RESULTS: The authors identified 2063 patients in the hemangioma group. The overall odds ratio of atopic disease in patients diagnosed with hemangioma was 1.67 compared to the control group (P < .0001). In the hemangioma cohort, the authors found a 36% increased risk of allergies (P < .0001), 67% increased risk of asthma (P < 4e-12), and 82% increased risk of eczema (P < 2e-16). CONCLUSION: This study indicates that allergy, asthma, and eczema are positively associated with hemangioma. Eczema was most strongly associated with hemangioma, with a nearly 2-fold increased risk. Understanding the relationship between atopic disease and infantile hemangioma may elucidate the pathophysiology of each and ultimately lead to better treatment options.