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BACKGROUND: Fistula rates in cleft palate repair vary by technique, surgeon, and institution. Although steroids are commonly used in airway surgery, many plastic surgeons are reluctant to use steroids because of concerns with wound healing. This study aims to assess outcomes and safety of steroid use in Furlow palatoplasty and determine its impact on fistula formation. METHODS: A retrospective cohort study was done of all cleft palate surgeries performed by a single surgeon between 2010 and 2014. Data reviewed included demographics, type of cleft, steroid use, length of surgery, length of stay, and fistula formation rate. RESULTS: One hundred thirty-five patients underwent palatoplasty, of which 101 received steroids and 34 did not. The mean age was 4.6 years. A total of 42.2% of patients underwent primary palatoplasty, 48.1% underwent submucous cleft palatoplasty, and 9.7% underwent conversion palatoplasty. The overall fistula rate was 1.5% and was comparable between the 2 groups (steroidsâ=â2.0%, no steroidsâ=â0.0%, Pâ=â0.558), and all occurred in primary palatoplasty patients. The average length of stay in the hospital was shorter among patients receiving steroids (steroidsâ=â2.0 days, no steroidsâ=â2.5 days, Pâ<â0.05). CONCLUSIONS: Steroid use in cleft palate surgery appears to be safe and likely not associated with impaired wound healing or increased fistula formation. It may also shorten length of hospitalization.
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Fissura Palatina , Fístula , Procedimentos de Cirurgia Plástica , Cirurgiões , Pré-Escolar , Fissura Palatina/cirurgia , Fístula/cirurgia , Humanos , Lactente , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: The timing of nerve recovery after nerve grafting in obstetrical brachial plexus palsy patients has not been well reported. One prior study reported a return to baseline function at 3 to 6 months postoperatively. However, there is a paucity of studies to corroborate this timing, and there have been no studies delineating the timeline to obtain clinically meaningful function. METHODS: OBPP patients with upper trunk neuromas-in-continuity who were treated with resection and sural nerve grafting at a single institution were studied. Time to return to baseline function was assessed by Active Movement Scale (AMS) scores preoperatively and postoperatively. Time to clinically meaningful function, defined as an AMS score of ≥6, was also assessed. RESULTS: Eleven patients with isolated upper trunk neuromas-in-continuity underwent excision and reversed sural nerve grafting. Three of 11 patients also underwent spinal accessory to suprascapular nerve transfers. Average age at surgery was 9.8 ± 1.9 months. One patient did not have follow-up data and was excluded. Average follow-up was 37.1 ± 16.8 months. Average return to baseline AMS score was approximately 4 to 8 months for shoulder abduction, shoulder flexion, shoulder external rotation, elbow flexion, and forearm supination. Clinically meaningful function was obtained in most patients between 9 and 15 months. The remaining patients who did not achieve clinically meaningful function had all obtained scores of 5, which reflects less than one half normal range of motion against gravity. CONCLUSIONS: Nerve recovery after surgical intervention in OBPP patients who undergo resection of an upper trunk neuroma-in-continuity and nerve grafting is more rapid than in adults but longer than previously reported in OBPP literature. This study provides an important data point in delineating the timeline of nerve recovery.
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Neuropatias do Plexo Braquial , Plexo Braquial , Paralisia do Plexo Braquial Neonatal , Transferência de Nervo , Neuroma , Adulto , Plexo Braquial/cirurgia , Neuropatias do Plexo Braquial/cirurgia , Humanos , Amplitude de Movimento Articular , Recuperação de Função Fisiológica , Resultado do TratamentoRESUMO
BACKGROUND: Management of pediatric facial defects can be challenging, as reattachment of large composite grafts is usually unsuccessful. Hyperbaric oxygen therapy (HBO) has been researched to augment composite graft survival, but clinical use for this application remains anecdotal. The authors present their successful experience managing select cases with large composite grafts and HBO as an adjunct. METHODS: A retrospective chart review identified children presenting with facial defects and managed operatively with large composite grafts (≥1.5â¯×â¯1.5 cm) and HBO therapy. Records were reviewed for defect characteristics, management details, and outcomes at last follow-up. RESULTS: Nine children (avg. 8.4 years, range 1.6-15.1) presented with ear or nose defects secondary to dog bites (n=7), falls (n=1), or congenital causes (n=1). Three experienced ear amputations, and six suffered nasal avulsions of varying degrees. All avulsed ears were reattached. Three cases of nose avulsions were reattached; the other three underwent secondary reconstruction with composite ear grafts. HBO was initiated immediately and continued for 8-10 days. All grafts survived at least 80% with no postoperative complications. At last follow-up (avg. 30.1 months; 0.8-63.9), all patients demonstrated good cosmetic results with minimal residual deformity. CONCLUSION: When reconstruction of pediatric facial defects warrants a large chondrocutaneous graft, immediate postoperative HBO therapy can increase survival. Particularly when reattaching amputated segments, if successful, this approach offers an anatomically ideal result without donor site morbidity. If unsuccessful, it does not "burn bridges" and decreases the extent of secondary reconstruction. The authors present their HBO protocol along with a review of available literature.
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Face/anormalidades , Face/cirurgia , Traumatismos Faciais/cirurgia , Sobrevivência de Enxerto , Oxigenoterapia Hiperbárica , Retalhos Cirúrgicos/irrigação sanguínea , Adolescente , Pré-Escolar , Estética , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
OBJECTIVE: To determine whether timing of palatoplasty (early, standard, or late) is associated with speech and language outcomes in children with cleft palate. DESIGN: Retrospective case series. SETTING: Tertiary care children's hospital. PARTICIPANTS: Records from 733 children born between 2005 and 2015 and treated at the Cleft Craniofacial Clinic of a tertiary children's hospital were retrospectively reviewed. Exclusion criteria were cleft repair at an outside hospital, intact secondary palate, absence of postpalatoplasty speech evaluation, syndromes, staged palatoplasty, and introduction to clinic after 12 months of age. Data from 232 children with cleft palate ± cleft lip were analyzed. INTERVENTIONS: Palatoplasty. MAIN OUTCOME MEASURES: Speech/language delays and disorders at 20 months and 5 years of age based on formal hospital or community-based testing or screening evaluation in the Cleft Craniofacial Clinic; additional speech surgery. RESULTS: Median age at palatoplasty was 12.6 months (range: 8.8-21.9 months). Age at palatoplasty was classified as early (<11 months, n = 28), standard (11-13 months, n = 158), or late (>13 months, n = 46). Late palatoplasty was associated with increased odds of speech/language delays and speech therapy at 20 months, and language delays at 5 years, compared with standard or early palatoplasty (P < .05 for all comparisons). However, speech sound production disorders, velopharyngeal incompetence, tube replacement, and hearing loss were not significantly associated with age at palatoplasty. CONCLUSIONS: Late palatoplasty may be associated with short- and long-term delays in speech/language development. Future studies with standardized surgical technique/timing and outcome measures are required to more definitively describe the impact of age at palatoplasty on speech/language development.
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Fissura Palatina , Insuficiência Velofaríngea , Criança , Humanos , Lactente , Estudos Retrospectivos , Fala , Resultado do TratamentoRESUMO
BACKGROUND: Candidates for otoplasty have variable anatomy that may result in an aesthetically suboptimal appearance. The authors describe an algorithm to obtain ideal aesthetic position of the ear using a standardized suturing only technique. METHODS: A retrospective review was conducted at a major children's hospital. Pre- and postoperative distances from the mastoid to the posterior lateral helical rim were measured at 3 consistent points (upper helix, mid helix, and lobule). Cosmetic outcomes were determined by visual analog cosmetic score (VACS), assigned by 3 independent reviewers. RESULTS: A total of 26 patients underwent otoplasty for prominent ear (average age 8.2 years). Duration of follow-up was an average of 32 weeks postoperatively. Pre- and postoperative VACSs were determined for all patients: overall-appearance, 25.8 versus 71.3; overall-ear appearance, 25.7 versus 70.0; shape, 24.4 versus 72.6; and projection, 23.7 versus 73.9 (Pâ<â0.05 for all). There was no inter-rater difference between scores. There was greater symmetry between ears postoperatively (Pâ<â0.05). Measurements were significantly improved pre- versus postoperatively: upper-helix 2.04 versus 1.20âcm, mid-helix 2.22 versus 1.18âcm, and lobule 1.85 versus 1.49âcm (Pâ<â0.05.) Postoperative measurements are in accordance with established norms for ideal ear position (1.0-1.2âcm upper third of the ear). Two patients recurred, and 1 experienced a spitting suture (11.5%). CONCLUSION: Aesthetic ideal was established on the operating table based on the appearance of the ear. Postoperative measurements fell within aesthetic ideal for a normal ear, suggesting that the use of intraoperative measurements are not needed to obtain an aesthetically acceptable outcome.
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Orelha Externa/cirurgia , Procedimentos Cirúrgicos Otológicos/métodos , Procedimentos de Cirurgia Plástica/métodos , Técnicas de Sutura/instrumentação , Suturas , Adolescente , Criança , Pré-Escolar , Orelha Externa/anormalidades , Feminino , Humanos , Masculino , Processo Mastoide/cirurgia , Período Pós-Operatório , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: Reduction mammaplasty was shown to ameliorate physical and psychological problems in adolescents suffering from macromastia. However, benefits of the Wise compared to the vertical incision pattern have not yet been established in this population. The aim of this study is to compare the outcomes of these 2 techniques in adolescents undergoing reduction mammaplasty. METHODS: A retrospective study of adolescents undergoing breast reduction by a single surgeon between 2011 and 2017 was conducted. Wise and vertical reduction techniques were compared based on demographics, surgical outcomes, patient satisfaction, and aesthetic outcomes. Patient satisfaction was determined using the validated BREAST-Q survey, and aesthetic outcomes using the validated ABNSW system. RESULTS: A total of 60 adolescents underwent reduction mammaplasty (Wise/inferior pedicle = 80.0%, Wise/superior medial pedicle = 1.7%, vertical/superior medial pedicle = 18.3%). Patients who reported preoperative pain (Wise = 95.9%, vertical = 72.7%, P = 0.039) were more likely to undergo Wise reduction. Patients with Wise reductions also were more likely to undergo bilateral reduction (Wise = 93.9%; vertical = 63.6%, P = 0.017). The major and minor complication rates were 1.7% (Wise = 2.0%, vertical = 0%, P = NS) and 23.3% (Wise = 20.4%, vertical = 36.4%, P = NS), respectively. Adolescents undergoing Wise incision demonstrated statistically significant improvement in NAC contour (Wise = 61%, vertical = 47%, P = 0.028) and overall aesthetic outcome (Wise = 25%, vertical = 17%, P = 0.008) with scarring not being a negative factor (Wise = -16%; vertical = -35%, P = 0.004). Patient satisfaction was comparable in both groups. CONCLUSIONS: Reduction mammaplasty is a safe, effective treatment for adolescent macromastia. The similarity in complication and satisfaction rates between Wise and vertical patterns suggests that both techniques can be safely performed in the adolescent population and allow for overall improvements in aesthetic outcomes.
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BACKGROUND: Pediatric plastic surgeons perform reconstructive surgeries for various congenital, oncologic, and traumatic injuries. METHODS: Our Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center (UPMC) Plastic Surgery team was tasked to care for a young man who suffered a proximal humeral amputation of his dominant upper extremity. RESULTS: A multidisciplinary team collaborated throughout his entire acute care and postoperative course, guiding treatment and care in effort to maximize function of his replanted extremity. CONCLUSIONS: This case report details the patient's unique journey and highlights his determination and courage to return back to a normal life.
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BACKGROUND: Sagittal craniosynostosis typically presents shortly after birth, with a scaphocephalic head shape, and is addressed surgically for functional and aesthetic concerns. This study highlights the authors' experience with a challenging patient population: those with phenotypically mild, missed, and late-developing sagittal craniosynostosis. METHODS: A prospective cohort study was conducted for all cases of sagittal craniosynostosis presenting to the authors' institution between July of 2013 and December of 2015. Patients older than 1 year with isolated sagittal craniosynostosis were included. All children were evaluated by craniofacial surgery, neurosurgery, and ophthalmology departments. All patients had dilated fundus examinations and visual evoked potentials. RESULTS: Fifty-two patients met inclusion criteria. Only nine patients have been treated surgically (17.3 percent). Two patients underwent operative correction for obvious scaphocephaly. Four patients who presented with concerning ophthalmologic evaluations and another patient with classic intracranial hypertension-related headaches underwent cranial vault expansion. Eight patients presented with inconclusive ophthalmologic evaluations. These patients were admitted for intracranial pressure monitoring, of which two were found to have elevated levels (25 percent) and underwent operative intervention. Thirty-seven other patients presented with isolated sagittal craniosynostosis in the setting of overall normocephaly without any signs concerning for intracranial hypertension. These patients continue to undergo serial evaluation. CONCLUSIONS: The authors describe their treatment protocol for a large series of patients presenting with the delayed diagnosis of sagittal craniosynostosis. Based on the early experience of the authors' center with this protocol, the risk of intracranial hypertension appears to be low in this population. The majority of patients to date have been managed nonsurgically without invasive monitoring. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.
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Algoritmos , Craniossinostoses/cirurgia , Crânio/cirurgia , Adolescente , Criança , Pré-Escolar , Protocolos Clínicos , Craniossinostoses/complicações , Potenciais Evocados Visuais , Oftalmopatias/etiologia , Oftalmopatias/cirurgia , Feminino , Humanos , Lactente , Hipertensão Intracraniana/etiologia , Hipertensão Intracraniana/cirurgia , Masculino , Estudos ProspectivosRESUMO
INTRODUCTION: PHACE syndrome is a neurocutaneous disorder involving large facial hemangiomas in association with posterior fossa abnormalities, cerebral arterial anomalies, cardiac defects, and eye abnormalities. A recent consensus statement has delineated criteria necessary for the diagnosis of PHACE syndrome. Extracutaneous manifestations of PHACE syndrome predominately affect the cerebrovascular system. To date, there are no reports of cerebral cavernous malformations (CCMs) in children with PHACE syndrome. METHODS: We reviewed the charts of children admitted to the Children''s Hospital of Pittsburgh who met criteria for PHACE syndrome, and evaluated neuroimaging for cerebrovascular abnormalities, including the finding of CCMs. RESULTS: Six children met criteria for PHACE syndrome at our institution over a 10-year period. All children were female. All children had cerebrovascular abnormalities sufficient to meet major criteria for diagnosis. Four children (66.7 %) were found incidentally to have CCMs; all lesions measured less than 5 mm at the time of diagnosis and were asymptomatic. CONCLUSION: At present, CCMs are not listed among the diagnostic criteria for PHACE syndrome, and they have not previously been reported in association with PHACE syndrome. Hypoxic injury in utero may be the common denominator in the pathogenesis of many of the abnormalities already accepted in the criteria for PHACE syndrome and the formation of CCMs. In the setting of PHACE syndrome, we encourage clinicians to evaluate children for CCMs, which are readily apparent on the already-recommended screening MRIs.
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Coartação Aórtica/complicações , Anormalidades do Olho/complicações , Malformações Arteriovenosas Intracranianas/complicações , Síndromes Neurocutâneas/complicações , Coartação Aórtica/diagnóstico por imagem , Pré-Escolar , Anormalidades do Olho/diagnóstico por imagem , Feminino , Humanos , Imageamento Tridimensional , Lactente , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Síndromes Neurocutâneas/diagnóstico por imagemRESUMO
BACKGROUND: Velopharyngeal insufficiency affects as many as one in three patients after cleft palate repair. Correction using a posterior pharyngeal flap (PPF) has been shown to improve clinical speech symptomatology; however, PPFs can be complicated by hyponasality and obstructive sleep apnea. The goal of this study was to assess if speech outcomes revert after clinically indicated PPF takedown. METHODS: The cleft-craniofacial database of the Children's Hospital of Pittsburgh at the University of Pittsburgh Medical Center was retrospectively queried to identify patients with a diagnosis of velopharyngeal insufficiency treated with PPF who ultimately required takedown. Using the Pittsburgh Weighted Speech Score (PWSS), preoperative scores were compared to those after PPF takedown. Outcomes after 2 different methods of PPF takedown (PPF takedown alone or PPF takedown with conversion to Furlow palatoplasty) were stratified and cross-compared. RESULTS: A total of 64 patients underwent takedown of their PPF. Of these, 18 patients underwent PPF takedown alone, and 46 patients underwent PPF takedown with conversion to Furlow Palatoplasty. Patients averaged 12.43 (range, 3.0-22.0)(SD: 3.93) years of age at the time of PPF takedown, and 58% were men. Demographics between groups were not statistically different. The mean duration of follow-up after surgery was 38.09 (range, 1-104) (SD, 27.81) months. For patients undergoing PPF takedown alone, the mean preoperative and postoperative PWSS was 3.83 (range, 0.0-23.0) (SD, 6.13) and 4.11 (range, 0.0-23.0) (SD, 5.31), respectively (P = 0.89). The mean change in PWSS was 0.28 (range, -9.0 to 7.0) (SD, 4.3). For patients undergoing takedown of PPF with conversion to Furlow palatoplasty, the mean preoperative and postoperative PWSS was 6.37 (range, 0-26) (SD, 6.70) and 3.11 (range, 0.0-27.0) (SD, 4.14), respectively (P < 0.01). The mean change in PWSS was -3.26 (range, -23.0 to 4.0) (SD, 4.3). For all patients, the mean preoperative PWSS was 5.66 (range, 0.0-26) (SD, 6.60) and 3.39 (range, 0.0-27) (SD, 4.48), respectively (P < 0.05). The mean change in PWSS was -2.26 (range, -23.0 to 7) (SD, 5.7). There was no statistically significant regression in PWSS for either surgical intervention. Two patients in the PPF takedown alone cohort demonstrated deterioration in PWSS that warranted delayed conversion to Furlow palatoplasty. Approximately 90% of patients, who undergo clinically indicated PPF takedown alone, without conversion to Furlow Palatoplasty, will show no clinically significant reduction in speech. CONCLUSIONS: Although there is concern that PPF takedown may degrade speech, this study finds that surgical takedown of PPF, when clinically indicated, does not result in a clinically significant regression of speech.
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Fissura Palatina/complicações , Faringe/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Distúrbios da Fala/cirurgia , Insuficiência Velofaríngea/cirurgia , Adolescente , Criança , Pré-Escolar , Fissura Palatina/cirurgia , Feminino , Seguimentos , Humanos , Masculino , Estudos Retrospectivos , Fala , Distúrbios da Fala/etiologia , Resultado do Tratamento , Insuficiência Velofaríngea/etiologia , Adulto JovemRESUMO
OBJECTIVE: Despite the increasing popularity of propranolol for treatment of infantile hemangioma (IH), there is need for further evidence of efficacy and safety. This study is a retrospective review of one institution's experience treating IH with propranolol using a standard protocol. METHODS: Between 2009 and 2014, patients with IH were evaluated for treatment with propranolol. Exclusion criteria included a history of hypoglycemia, respiratory disorders, and cardiovascular disorders. Propranolol, 2 mg/kg/d, was initiated during 48-hour inpatient stay. Weight and complications were monitored. Appearance was assessed by Visual Analog Cosmetic Scale (VACS) via serial photography. RESULTS: Twenty-three patients were treated with propranolol. Average age at initiation of therapy was 14.9 weeks. Twenty-two lesions were on the head and neck, and 1 was on the trunk. Average treatment duration was 54.3 weeks (range 24-148 wk). Treatment was confirmed to be complete in 23 patients at the time of review (91.3%). Two patients were lost to follow-up. Posttreatment color, size, and VACS improved significantly (P < 0.05). There was no significant difference between first and most recent weight. Two patients experienced hypoglycemia, 1 during a diarrheal illness and 1 during inpatient treatment initiation. CONCLUSION: The authors present a series of patients with IH safely treated with 2 mg/kg/d of propranolol. Using a strict protocol, few complications were observed. Patients achieved significant reduction in size and improvement of the overall appearance of IH.
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Antagonistas Adrenérgicos beta/uso terapêutico , Antineoplásicos/uso terapêutico , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Hemangioma/tratamento farmacológico , Propranolol/uso terapêutico , Administração Oral , Antagonistas Adrenérgicos beta/administração & dosagem , Antineoplásicos/administração & dosagem , Peso Corporal , Estudos de Coortes , Estética , Feminino , Seguimentos , Neoplasias de Cabeça e Pescoço/patologia , Hemangioma/patologia , Humanos , Lactente , Recém-Nascido , Perda de Seguimento , Masculino , Seleção de Pacientes , Propranolol/administração & dosagem , Estudos Retrospectivos , Segurança , Resultado do Tratamento , Escala Visual AnalógicaRESUMO
Significant number of patients with cloacal exstrophy variants present with poorly developed scrotum. Widely divergent hypoplastic scrotal sacs pose a technical challenge for scrotal reconstruction. We describe a technique of bilateral Z-plasty for the creation of single scrotal sac in a patient with widely divergent, hypoplastic scrotal sacs.
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Extrofia Vesical/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Escroto/cirurgia , Retalhos Cirúrgicos , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Humanos , Lactente , MasculinoRESUMO
BACKGROUND: The safety, efficacy, and direct comparison of various surgical treatments for velopharyngeal insufficiency (VPI) associated with occult submucous cleft palate (OSMCP) are poorly characterized. The aim of this study was to report and analyze the safety and efficacy of Furlow palatoplasty (FP) versus radical intravelar veloplasty (IVV) for treatment of VPI associated with OSMCP. METHODS: A retrospective review of one institution's experience treating VPI associated with OSMCP using IVV (group 1) or FP (group 2) during 24 months was performed. Statistical significance was determined by Wilcoxon matched-pair, Independent-Samples Mann-Whitney U, and analysis of variance (SPSS 20.0.0). RESULTS: In group 1 (IVV), 18 patients were identified from August 2010 to 2011 (12 male and 6 female patients; average age, 5.39 years). Seven patients were syndromic and 11 were nonsyndromic. In group 2 (FP), 17 patients were identified from August 2009 to 2011 (8 male and 9 female patients; average age, 8.37 years). Three patients were syndromic and 14 patients were nonsyndromic. There was statistical significance between the average pretreatment Pittsburgh Weighted Speech Score (PWSS) of the 2 groups (group 1 and 2 averages 19.06 and 11.05, respectively, P=0.002), but there was no statistical significance postoperatively (group 1 and 2 averages 4.50 and 4.69, respectively, P=0.405). One patient from each group required secondary speech surgery. Average operative time was greater for FP (140 minutes; range, 93-177 minutes) compared to IVV (95 minutes; range, 58-135 minutes), P<0.001. Average hospital stay was 3.9 days for IVV (range, 2-9 days) and 3.2 days for FP (range, 2-6 days), with no significant difference (P=0.116). There were no postsurgical wound infections, oral-nasal fistulas, postoperative bleeding complications, or mortalities. CONCLUSIONS: Nonsyndromic patients with hypernasal speech are treated effectively and safely with either IVV or FP. Intravelar veloplasty trended toward lower speech scores than FP (76% IVV, 58% FP PWSS absolute reduction). Syndromic patients with OSMCP may be more effectively treated with FP (72% IVV vs 79% FP PWSS absolute reduction). Intravelar veloplasty is associated with shorter operative times. Both techniques are associated with low morbidity, improved speech scores, and low reoperative rates.
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Fissura Palatina/complicações , Palato Mole/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Distúrbios da Fala/etiologia , Insuficiência Velofaríngea/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Insuficiência Velofaríngea/etiologiaRESUMO
NRAS and BRAF mutations occur in congenital melanocytic nevi (CMN), but results are contradictory. Sixty-six prospectively collected CMN patients were analyzed for NRAS Q61 mutations using Sanger sequencing. Negative cases were evaluated for BRAF V600E mutation. NRAS Q61 mutations affected 51 patients (77.3%), and BRAF V600E was found in 5 (7.6%). NRAS Q61 mutation affected 29 (80.6%) of 36 giant, 16 (80.0%) of 20 large, and 5 (62.5%) of 8 medium-size CMN; BRAF mutation affected 1 (5%) of 20 large and 4 (11.4%) of 36 giant CMN. Compared to NRAS, BRAF-mutated nevi show scattered/extensive dermal and subcutaneous nodules (100% BRAF+ vs 34.8% NRAS+) (P=0.002). Neurocutaneous melanocytosis (NCM) affected 16 (24.2%) of 66 patients, with NRAS Q61 mutation in 12 (75.0%), and BRAF V600E in 2 (12.5%), P=0.009. Two patients were negative for both mutations (12.5%). In conclusion, although NRAS Q61 mutations predominate, BRAF V600E mutation also affects patients with large/giant CMN (L/GCMN), and with NCM, a novel finding. BRAF V600E is also associated with increased dermal/subcutaneous nodules. These findings open the possibility of BRAF-targeted therapy in some L/GCMN and NCM cases.
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Mutação , Nevo Pigmentado/congênito , Nevo Pigmentado/genética , Proteínas Proto-Oncogênicas B-raf/genética , Adolescente , Proliferação de Células , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , GTP Fosfo-Hidrolases/metabolismo , Genótipo , Humanos , Lactente , Masculino , Melanócitos/metabolismo , Melanoma/metabolismo , Proteínas de Membrana/metabolismo , Síndromes Neurocutâneas , Nevo Pigmentado/patologia , Fenótipo , Estudos Prospectivos , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Resultado do TratamentoRESUMO
OBJECTIVE: Although neurofibromas are rare, their initial clinical and imaging presentation can mimic those of vascular anomalies, particularly if the characteristic clinical features of neurofibromatosis are not present. The diagnostic challenges encountered in five cases of histologically proven neurofibromas, initially diagnosed as vascular anomalies, are reviewed and discussed. CONCLUSION: The clinical and imaging differences between neurofibromas and vascular anomalies are detailed with the histopathologic features to better understand why some neurofibromas are diagnosed as vascular anomalies.
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Imageamento por Ressonância Magnética/métodos , Neurofibroma/patologia , Neoplasias do Sistema Nervoso Periférico/patologia , Neoplasias de Tecidos Moles/patologia , Malformações Vasculares/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , LactenteRESUMO
BACKGROUND: Dermal regenerate templates are currently widely used in both adult and pediatric burn reconstruction. Despite this, the safety and efficacy of regenerate templates combined with full-thickness skin grafts for the reconstruction of pediatric facial defects traditionally treated with local flaps is not widely published. The aim of this study is to report the safety and efficacy of pediatric nasal defect reconstruction using regenerative templates/full-thickness skin grafts. METHODS: A retrospective review of one institution's experience with pediatric nasal defects treated with regenerative templates was performed. All patients (n = 4) were treated with a multistage protocol. Two reviewers independently assigned Visual Analogue Cosmetic Scale (VACS) scores: 1 surgeon and 1 nonsurgical researcher not involved in patient care. Standardized photographs (anteroposterior, oblique, lateral, and worm's eye view) were assigned VACS scores according to a 100-point scale: "abhorrent," 0-24; "poor," 25-49; "moderate," 50-74; and "excellent," 75-100. Statistical analysis was performed using Mann-Whitney U and Wilcoxon paired signed-rank tests. RESULTS: Four patients (2 boys and 2 girls, average age 6.8 yr) who met the inclusion criteria were identified. A total of 5 nasal lesions (2 spitz nevi, 1 vascular lesion, and 2 congenital nevi) were removed. The preoperative VACS score was 45.2 (range, 5-70), compared with 84.5 (range, 45-100) postoperatively (P <0.000). There was no significant difference between raters (preoperative, P = 0.346; postoperative, P = 0.678). CONCLUSIONS: The reconstruction of complex pediatric nasal lesions using dermal regenerative templates and full-thickness postauricular skin grafts is safe and effective, and associated with low morbidity and significant improvement in VACS scores.
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Circumcision is the most common surgical procedure in males in the United States, and minor complications are not uncommon. Major complications like partial penile amputations have been reported with successful replantation. Complete penile amputations in adult males have been described, and successful replantation has been reported with increasing success. We report a case of complete penile amputation at the penopubic junction using a Mogen clamp in a 7-day-old neonate with replantation using postoperative leech therapy. To our knowledge this is the first time leech therapy has been used postoperatively for neonatal penile amputation.
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Amputação Traumática/cirurgia , Comportamento Ritualístico , Circuncisão Masculina/efeitos adversos , Aplicação de Sanguessugas , Pênis/lesões , Pênis/cirurgia , Cuidados Pós-Operatórios/métodos , Reimplante , Humanos , Recém-Nascido , MasculinoRESUMO
BACKGROUND: Velopharyngeal insufficiency occurs in a nontrivial number of cases following cleft palate repair. We hypothesize that a conversion Furlow palatoplasty allows for long-term correction of VPI resulting from a failed primary palate repair, obviating the need for pharyngoplasty and its attendant comorbidities. METHODS: A retrospective review of patients undergoing a conversion Furlow palatoplasty between 2003 and 2010 was performed. Patients were grouped according to the type of preceding palatal repair. Velopharyngeal insufficiency was assessed using Pittsburgh Weighted Speech Scale (PWSS). Scores were recorded and compared preoperatively and postoperatively at 3 sequential visits. RESULTS: Sixty-two patients met inclusion criteria and were grouped by preceding repair (straight-line repair (n = 37), straight-line repair with subsequent oronasal fistula (n = 14), or pharyngeal flap (n = 11). Median PWSS scores at individual visits were as follows: preoperative = 11, first postoperative = 3 (mean, 114.0 ± 6.7 days), second postoperative = 1 (mean, 529.0 ± 29.1 days), and most recent postoperative = 3 (mean, 1368.6 ± 76.9 days). There was a significant difference between preoperative and postoperative PWSS scores in the entire cohort (P < 0.001) with overall improvement, and post hoc analysis showed improvement between each postoperative visit (P < 0.05) with the exception of the second to the most recent visit. There were no differences between postoperative PWSS scores in the operative subgroupings (P > 0.05). Eight patients failed to improve and showed no differences in PWSS scores over time (P > 0.05). Patients with a PWSS score of 7 or greater (n = 8) at the first postoperative visit (0-6 months) displayed improvement at the most recent visit (P< 0.05). CONCLUSIONS: Conversion Furlow palatoplasty is an effective means for salvaging speech. Future studies should elucidate which factors predict the success of this technique following failed palate repair.