RESUMO
Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies suggest that germline genetic factors may influence CMN development. In CMN patients from the U.K., genetic variants in MC1R, such as p.V92M and loss-of-function variants, have been previously associated with larger CMN. We analyzed the association of MC1R variants with CMN characteristics in two distinct cohorts of medium-to-giant CMN patients from Spain (N = 113) and from France, Norway, Canada, and the United States (N = 53), similar at the clinical and phenotypical level except for the number of nevi per patient. We found that the p.V92M or loss-of-function MC1R variants either alone or in combination did not correlate with CMN size, in contrast to the U.K. CMN patients. An additional case-control analysis with 259 unaffected Spanish individuals showed a higher frequency of MC1R compound heterozygous or homozygous variant genotypes in Spanish CMN patients compared to the control population (15.9% vs. 9.3%; p = .075). Altogether, this study suggests that MC1R variants are not associated with CMN size in these non-UK cohorts. Additional studies are required to define the potential role of MC1R as a risk factor in CMN development.
Assuntos
Predisposição Genética para Doença , Nevo Pigmentado/genética , Receptor Tipo 1 de Melanocortina/genética , Neoplasias Cutâneas/genética , Adolescente , Adulto , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Frequência do Gene/genética , Genótipo , Heterozigoto , Homozigoto , Humanos , Masculino , Nevo Pigmentado/patologia , Fenótipo , Neoplasias Cutâneas/patologia , EspanhaRESUMO
BACKGROUND: Secondary alveolar bone grafting in patients with clefts lip and palate is usually performed with iliac crest bone harvesting, however using bone substitute allow to avoid harvesting morbidity. The purpose of our study was to assess if the use of a bioactive glass ceramic is an acceptable alternative to iliac crest bone harvesting in alveolar clefts treatment. METHODS: A prospective study including all patients who have benefited of alveolar grafting by GlassBONE™ (Noraker, France), a synthetic resorbable bioactive glass 45S5 ceramic was conducted. The patients underwent clinical assessments and imaging check-up by dental panoramic radiography and CBCT. RESULTS: Fifty-eight graftings were performed. The mean age at the time of the graft was 7.6 years. Hospitalization, social eviction and antalgic consumption were reduced. Bone continuity was achieved in 63.8% of the cases. Bilateral cleft and dental agenesia increased grafting failure. In the subgroup of 25 patients with isolated unilateral cleft without dental agenesis, 80% had bone continuity at one year. We noted 10.3% of alveolar fistula recurrence. CONCLUSION: The use of GlassBONE™ in alveolar grafts simplifies the surgery procedure and the postoperative management, and ensures satisfactory mucosal healing, tooth eruption and bone continuity in two thirds of the followed grafts.
Assuntos
Processo Alveolar/cirurgia , Substitutos Ósseos/uso terapêutico , Cerâmica/uso terapêutico , Fissura Palatina/cirurgia , Processo Alveolar/diagnóstico por imagem , Criança , Pré-Escolar , Fissura Palatina/diagnóstico por imagem , Tomografia Computadorizada de Feixe Cônico , Vidro , Humanos , Estudos Prospectivos , Radiografia PanorâmicaRESUMO
Since the first description of Kasabach-Merritt syndrome (KMS) in 1940, many treatments have been proposed combining pharmacologic and non-pharmacologic approaches, which can be effective on the pathology but can have adverse and unpredictable side-effects with long-term use. Herein we describe the solely surgical treatment of Kasabach-Merritt syndrome in a neonate with a severe and rapidly progressive thrombocytopenia. The patient's condition normalized at 7 days postoperatively, with rapid increase in platelet count and normalization of d-dimer concentration.
Assuntos
Síndrome de Kasabach-Merritt/cirurgia , Humanos , Recém-Nascido , Síndrome de Kasabach-Merritt/complicações , Masculino , Trombocitopenia/complicações , Resultado do Tratamento , Ultrassonografia DopplerRESUMO
UNLABELLED: Reconstruction after total amputation of the upper and lower eyelids with preserved globe is rare. The primary goal is immediate corneal protection. The second goal is to restore mobility, occlusion, and facial symmetry. Two women had full-thickness excision of both upper and lower eyelids to treat a melanoma. The reconstruction method required four steps over a period of 5 months. A buccal mucosal graft was used to recreate the conjunctival lining, and an oblique forehead flap was used to recreate the skin. Resection of the flap and replacement by a full-thickness skin graft made it possible to recreate a thin and mobile upper eyelid. Visual acuity remained unchanged, and the eyelids remained functional despite a degree of ptosis and lower eyelid retraction. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, V.
Assuntos
Blefaroplastia/métodos , Neoplasias Palpebrais/cirurgia , Melanoma/cirurgia , Neoplasias Cutâneas/cirurgia , Idoso , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
Myofibroma, the most common juvenile fibrous disorder in infancy, usually manifests as a solitary soft tissue tumor and less commonly as simultaneous multiple tumors in both soft tissue and bones. Infantile myofibromatosis is well described in the head and neck, but cutaneous lesions rarely occur in the periorbit and orbit, where fast growth and bone damage can mimic malignant tumors. We describe a case of a solitary periorbital myofibroma in a newborn. Treatment consisted of partial excision of the tumor. Histologic and immunohistochemistry analyses provided the diagnosis of infantile myofibromatosis. The patient remains disease-free at 10 years of age, but with some visual impairment. Infantile myofibromatosis is an uncommon tumor with exceptional periorbital involvement. Differential diagnosis can be difficult when it is solely based on histologic assessment. Immunohistochemistry evaluation demonstrating cytoplasmic actin filaments in neoplastic spindle cells confirms the diagnosis. As soon as the diagnosis is made, chest and abdominal imaging must be performed to evaluate the overall prognosis and direct treatment. The treatment of choice is early conservative surgery to minimize functional and/or esthetic damage. Complete tumor excision is not always possible. Lengthy ophthalmologic monitoring is required to detect the onset of amblyopia.
Assuntos
Neoplasias Palpebrais/diagnóstico , Miofibroma/diagnóstico , Neoplasias Palpebrais/congênito , Neoplasias Palpebrais/cirurgia , Humanos , Recém-Nascido , Masculino , Miofibroma/congênito , Miofibroma/cirurgiaRESUMO
BACKGROUND: The use of lasers has been proposed for scar revision. A recent pilot clinical study demonstrated that lasers could also be used immediately after surgery to reduce the appearance of scars. The LASH (Laser-Assisted Skin Healing) technique induces a temperature elevation in the skin which modifies the wound-healing process. We report a prospective comparative clinical trial aimed at evaluating an 810-nm diode-laser system to accelerate and improve the healing process in surgical scars immediately after skin closure. METHODS: Twenty-nine women and 1 man (mean age = 41.4 years; Fitzpatrick skin types I-IV) were included to evaluate the safety and performance of the laser system. The laser dose (or fluence in J/cm(2)) was selected as a function of phototype and skin thickness. Each surgical incision (e.g., abdominoplasty) was divided into two parts. An 8-cm segment was treated with the laser immediately after skin closure. A separate 8-cm segment was left untreated as a control. Clinical evaluations (overall appearance ratings, comparative scar scale) of all scars were conducted at 10 days, 3 months, and 12 months by both surgeon and patients. Profilometry analysis from silicone replicas of the skin was done at 12 months. Wilcoxon signed-rank test analyses were performed. RESULTS: Twenty-two patients were treated using a high dose (80-130 J/cm(2)) and 8 patients with a low dose (<80 J/cm(2)). At 12 months in the high-dose group, both surgeon and patients reported an improvement rate of the laser-treated segment over the control area of 72.73 and 59.10%, respectively. For these patients, profilometry results showed a decrease in scar height of 38.1% (p = 0.027) at 12 months for the laser-treated segment versus control. Three patients treated with higher doses (>115 J/cm(2)) experienced superficial burns on the laser-treated segment, which resolved in about 5-7 days. For the eight patients treated at low dosage (<80 J/cm(2)), there was no significant difference in the treated segment versus the control segment. No side effects were observed. CONCLUSION: This prospective comparative trial demonstrates that an 810-nm diode laser treatment, performed immediately after surgery, can improve the appearance of a surgical scar. The dose plays a great role in scar improvement and must be well controlled. There is interest in LASH for hypertrophic scar revision. LASH can be used to prevent and reduce scars in plastic surgery.
Assuntos
Cicatriz/radioterapia , Lasers Semicondutores/uso terapêutico , Terapia com Luz de Baixa Intensidade , Adulto , Cicatriz/patologia , Cicatriz/prevenção & controle , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cicatrização/efeitos da radiaçãoRESUMO
AIM: Occurrence of secondary coronal synostosis (SCS) and its functional consequences were retrospectively analyzed in sagittal synostosis. PATIENTS AND METHODS: Occurrence of SCS and/or fingerprinting and clinical signs of raised intracranial pressure were investigated in children with scaphocephaly with a minimum follow-up of 3 years. Children were divided in 4 groups according to surgery (group 1: "H" craniectomy [193 patients]; group 2: craniectomies with removal of the coronal sutures [24 children]; group 3:"H" craniectomies and flap transpositions without total removal of the coronal suture [36 patients]; and group 4: 253 nonsurgical patients with scaphocephaly). RESULTS: Among group 1, 20 (10.4%) developed SCS (3 mo to 6 y postoperatively). Fingerprinting was generalized in 13 patients, localized in 5, and absent in 2. Headaches were present in 8 patients. Papilledema appeared during follow-up in 2 of them. Intracranial pressure that was first recorded as normal became elevated, and they both required a surgical decompression. In group 2, none developed an SCS. In group 3, 11% developed SCS. In group 4, 1.2% nonsurgical patients with scaphocephaly presented with an SCS. However, group 4 corresponds to less severe morphologic deformation and/or parents refusing surgery. CONCLUSIONS: Secondary coronal synostosis appears to occur with an approximate 10% incidence after craniectomies not involving the coronal sutures, with 1% requiring surgical decompression. Patients with milder forms of scaphocephaly who were not operated on (1.2%) rarely developed an SCS. Long-term follow-up should be undertaken even in the milder forms for possible recurrence of secondary synostosis.
Assuntos
Craniossinostoses/cirurgia , Complicações Pós-Operatórias/epidemiologia , Distribuição de Qui-Quadrado , Suturas Cranianas/anormalidades , Suturas Cranianas/cirurgia , Craniotomia/métodos , Descompressão Cirúrgica , Feminino , Cefaleia/epidemiologia , Humanos , Incidência , Lactente , Pressão Intracraniana , Masculino , Papiledema/epidemiologia , Complicações Pós-Operatórias/cirurgia , Estudos Retrospectivos , Retalhos Cirúrgicos , Resultado do TratamentoRESUMO
PURPOSE: Complex defects resulting from surgical excision of facial cancer sometimes require reconstruction using microvascular free tissue transfer. Tissue transfer from areas distant from the face can resolve many problems, but often provides a poor cosmetic match with facial skin. The submental flap helps surmount this problem. Cervical skin has similarities with face skin, and because this is a regional flap, it helps eliminate microsurgical risks. In this article we present a series of 9 cases, review the anatomy and the surgical technique, and explain the advantages and limitations of the submental flap. PATIENTS AND METHODS: A successive series of 9 patients in which this reconstruction was performed was reviewed retrospectively, and the results were analyzed. RESULTS: Submental flap facial reconstruction was performed on 9 patients (8 men and 1 woman) between 1993 and 2004. Mean patient age was 53.6 years (range, 43 to 81 years). Eight of the 9 external skin coverage cases were associated with excision of cutaneous malignancies; 1 case involved treatment of burn sequelae. There were no cases of marginal mandibular nerve palsy. In 6 cases, venous drainage was disrupted after raising the flap, but without causing flap loss. This disruption was overcome in 4 to 5 days without the need for flap revision or any other interventions. Partial loss of the distal extent of the flap occurred in 2 cases. In all cases, moderately good skin color and texture match was achieved. Debulking of the flap was needed in 6 cases. The donor site recovered well with no hypertrophic scarring and no restriction to neck movement. CONCLUSIONS: The submental artery island flap is a useful reconstructive procedure that offers options to the reconstructive surgeon and has definite advantages over distant flaps in terms of ease of dissection and donor site appearance.
Assuntos
Face/cirurgia , Neoplasias Faciais/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Transplante de Pele/métodos , Retalhos Cirúrgicos , Adulto , Idoso , Idoso de 80 Anos ou mais , Queimaduras/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias Cutâneas/cirurgia , Retalhos Cirúrgicos/irrigação sanguínea , Resultado do TratamentoRESUMO
INTRODUCTION: To build relevant tools for Health Care Professionals, we must study and understand their practices. This paper discusses the way they leave traces in the Patient Record to help asynchronous collaboration, elaborating new documents or adding annotations. METHODS: We compared the results of two studies about the various writing strategies used by the Health Care Professionals to capture knowledge in the Patient Records. The first study deals with the information written by the nurses in a textbook during homecare situations. The second one deals with the annotations left by all the practitioners to complete the documents of the patient record in a hospital ward. RESULTS: We have found some invariants in these two situations. An interpretation model based on four levels: Communication Context, Communication Object, Value of Communication and Value of Cooperation, is proposed in order to describe and to index the characteristics of the Communication Notes.