RESUMO
OBJECTIVE: This article assesses the efficacy, safety, pharmacology, and clinical applications of topical sirolimus 0.2% gel for the treatment of tuberous sclerosis complex (TSC)-associated facial angiofibromas. DATA SOURCES: A review of the literature was conducted using the Medline (PubMed) and EMBASE databases using the keywords topical sirolimus, rapamycin, Hyftor, and tuberous sclerosis. STUDY SELECTION AND DATA EXTRACTION: Articles written in English and relevant to the topic were included. DATA SYNTHESIS: In the phase 2 trial, the mean improvement factor, a composite measure of improved tumor size and redness, was achieved in all patient groups (P < 0.001) with significant responses among the adult and pediatric subgroups at week 12. There were no serious adverse events recorded. In the phase 3 trial, 60% of participants responded to treatment in the sirolimus group compared with 0% in the placebo group with different response rates between the adult and pediatric subgroups at week 12. Sirolimus gel had no serious adverse events, and dry skin was the most common adverse reaction. Patients who had completed the 12-week trials were then enrolled in a long-term trial; angiofibromas had response rates of 78.2% to 0.2% sirolimus gel. RELEVANCE TO PATIENT CARE AND CLINICAL PRACTICE IN COMPARISON TO EXISTING DRUGS: Topical sirolimus 0.2% is a first-in-class, newly Food and Drug Administration (FDA)-approved, mammalian target of rapamycin (mTOR) inhibitor that is a promising and safe, noninvasive alternative to surgical procedures for TSC-associated angiofibromas. CONCLUSIONS: Topical sirolimus 0.2% gel is a moderately effective treatment for TSC-associated facial angiofibromas with an adequate safety profile.
Assuntos
Angiofibroma , Neoplasias Faciais , Esclerose Tuberosa , Adulto , Humanos , Criança , Esclerose Tuberosa/complicações , Esclerose Tuberosa/tratamento farmacológico , Esclerose Tuberosa/patologia , Angiofibroma/tratamento farmacológico , Angiofibroma/etiologia , Neoplasias Faciais/etiologia , Neoplasias Faciais/induzido quimicamente , Imunossupressores , Sirolimo/efeitos adversos , Géis/uso terapêuticoRESUMO
AIMS: Topical rapamycin is used to reduce facial angiofibromas in patients with tuberous sclerosis (TSC). In the absence of a commercially available preparation, numerous formulations have been tested clinically, although only in the short term. METHODS: The pharmacy at Angers University Hospital (France) produced a cream formulation that was administered to people presenting this genetic disease. We conducted a questionnaire-based survey among 79 patients with TSC about their perceptions regarding the short-, medium- and long-term efficacy and safety of a topical rapamycin preparation in relation to facial angiofibromas. RESULTS: This formulation was very well tolerated and its efficacy was sustained over the long term with a mean treatment duration of 33â¯months (extremes 1-60). Efficacy was ratedâ¯≥â¯8/10 by 67.1% of patients while safety was ratedâ¯≥â¯8/10 by 84.8% of patients. CONCLUSION: This survey supports the safety and efficacy of topical rapamycin in the short-, medium- and long-term in the treatment of facial angiofibromas in a cohort of 79 patients with TSC.
Assuntos
Angiofibroma , Neoplasias Faciais , Esclerose Tuberosa , Humanos , Esclerose Tuberosa/complicações , Angiofibroma/tratamento farmacológico , Angiofibroma/complicações , Neoplasias Faciais/tratamento farmacológico , Neoplasias Faciais/etiologia , Imunossupressores/uso terapêutico , Sirolimo/efeitos adversosRESUMO
INTRODUCTION: facial angiofibromas of tuberous sclerosis are the most prevalent cutaneous manifestation, affecting 80% of patients, which cause facial lesions with negative psychosocial consequences. Newly, topical rapamycin has been established as an effective and safe therapy for this skin condition. PURPOSE: to analyze the available scientific evidence about the effectiveness and safety of topical sirolimus in the treatment of facial angiofibromas in tuberous sclerosis. METHODS: a literature search was conducted in PubMed and Cochrane. Effectiveness and safety were analyzed along with the main characteristics of each formulation in all included studies. RESULTS: thirty studies were included involving a total of 508 patients, developed in the last 20 years. Four randomized clinical trial, 17 case series and 9 single case reports were founded. Multiple topical rapamycin concentrations (0.003-1%) and formulations (gel, ointment, solution) were found in literature. Rapamycin demonstrated its effectiveness in all studies included, except for 5 patients in a 1 b study. Rapamycin was shown to be safe for the treatment of FA. CONCLUSIONS: Topical sirolimus can be considered an effective and safety option for the treatment of facial angiofibromas in tuberous sclerosis. However, further long-term studies need to establish an evidence-based therapeutic protocol.KEY MESSAGEUpdated review to date in topical rapamycin for facial angiofibromas, allowing support in therapeutic decisions.
Assuntos
Angiofibroma , Neoplasias Faciais , Esclerose Tuberosa , Angiofibroma/complicações , Angiofibroma/etiologia , Neoplasias Faciais/induzido quimicamente , Neoplasias Faciais/etiologia , Humanos , Imunossupressores/uso terapêutico , Ensaios Clínicos Controlados Aleatórios como Assunto , Sirolimo/efeitos adversos , Sirolimo/uso terapêutico , Esclerose Tuberosa/complicações , Esclerose Tuberosa/tratamento farmacológico , Esclerose Tuberosa/patologiaRESUMO
Plexiform neurofibroma is a presentation of neurofibromatosis type 1 (NF1) which can cause great facial deformities. Treatment rarely has a healing effect, so the surgical approach is aimed at improving esthetics and function. It requires a cross-disciplinary approach and typically needs multi-stage surgery. This is the case of a 16-year-old male patient with NF1 presenting with left periorbital and malar facial plexiform neurofibroma with slow-growth intraconal and extraconal invasion. He presented at the plastic surgery consultation for facial soft tissue deformity correction. Removal was performed using an esthetic subunit approach, with canthopexy and orbital cavity reconstruction, resulting in facial region symmetrization. This allowed for remarkable esthetic and functional improvement, facilitating ocular prosthesis adaptation. The subsequent use of selumetinib allowed the lesion to be stabilized.
Los neurofibromas plexiformes son una forma de presentación de la neurofibromatosis tipo 1 (NF1) que pueden originar grandes deformaciones faciales. El tratamiento de estas tumoraciones casi nunca es curativo, el abordaje quirúrgico tiene por objetivo mejorar la estética y la función. Requiere un abordaje multidisciplinar y suele necesitar cirugía por etapas. Se presenta el caso de un paciente varón con NF1 que presenta un neurofibroma plexiforme facial periorbitario y malar izquierdo con invasión intra y extraconal de crecimiento lento. Acude con 16 años a la consulta de cirugía plástica para corrección de las deformidades faciales de partes blandas. Se realiza exéresis mediante abordaje por subunidades estéticas, realizando cantopexia y reconstrucción de la cavidad orbitaria, resultando en una simetrización de la región facial. Con ello se obtiene una notable mejoría estética y funcional, facilitando la adaptación de la prótesis ocular. El uso posterior de selumetinib ha permitido estabilizar la lesión.
Assuntos
Neoplasias Faciais/cirurgia , Neurofibroma Plexiforme/cirurgia , Neurofibromatose 1/complicações , Procedimentos de Cirurgia Plástica/métodos , Adolescente , Neoplasias Faciais/etiologia , Humanos , Masculino , Neurofibroma Plexiforme/diagnóstico , Neurofibroma Plexiforme/etiologia , Neurofibromatose 1/cirurgiaRESUMO
INTRODUCTION: Fibrous cephalic plaques (FCP) are a characteristic manifestation of tuberous sclerosis complex (TSC) and occur in one third of cases. Their natural history and long term course is unknown, as is the outcome of long term follow-up of TSC cases in old age. PHENOTYPE AND METHODS: We describe an 80 year old with TSC due to a c.2784dupC TSC2 mutation, who was diagnosed in infancy with an FCP and was regularly followed up at the TSC clinic over 8 decades with regular epilepsy treatment and renal monitoring. RESULTS: Regular clinical photography and clinical records document the plaque at different ages. The FCP naturally resolved at 74 years. Facial angiofibromas also faded with time in the last decade. His epilepsy and renal abnormalities remained under control with careful surveillance and monitoring. DISCUSSION: Natural aging in the eighth decade causes progressive laxity of collagen and leads to natural resolution of FCPs. This novel finding with a unique 80 year follow up yields valuable insights into the aging changes within FCPs and facial angiofibromas as the pathways linking facial angiofibromas and FCP's through the TGF-ß1 pathway are now being elucidated. CONCLUSION: We present a clinical odyssey showing the natural progression and history of FCPs in TSC and comment on the mechanistic pathways allowing potential interventions in this disfiguring condition. TSC cases can be successfully managed and complications - particularly in the brain and kidney, can be avoided over an entire lifetime. This is encouraging for long term prospects for patients with TSC.
Assuntos
Dermatoses Faciais/patologia , Dermatoses do Couro Cabeludo/patologia , Envelhecimento da Pele , Esclerose Tuberosa/complicações , Idoso de 80 Anos ou mais , Angiofibroma/etiologia , Angiofibroma/patologia , Dermatoses Faciais/etiologia , Neoplasias Faciais/etiologia , Neoplasias Faciais/patologia , Humanos , Estudos Longitudinais , Masculino , Dermatoses do Couro Cabeludo/etiologia , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/patologiaRESUMO
Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet radiation (UVR), being due to defects involving the nucleotide excision repair pathway. Patients with XP are prone to develop multiple cutaneous neoplasms including non-melanoma skin cancers and melanoma. Collision tumors in patients with XP have been reported in the literature including the following lesions, actinic keratosis, basal cell carcinoma, squamous cell carcinoma, and in situ melanoma. Herein, we present a rare collision tumor composed of melanoma and basosquamous carcinoma in a 13-year-old XP patient and describe the dermoscopic features.
Assuntos
Carcinoma Basoescamoso/patologia , Neoplasias Faciais/patologia , Melanoma/patologia , Neoplasias Cutâneas/patologia , Xeroderma Pigmentoso/complicações , Xeroderma Pigmentoso/patologia , Adolescente , Carcinoma Basoescamoso/etiologia , Neoplasias Faciais/etiologia , Humanos , Masculino , Melanoma/etiologia , Neoplasias Cutâneas/etiologiaRESUMO
PHACE syndrome describes the association of large segmental haemangioma with extracutaneous features (posterior fossa anomalies, arterial, cardiac, eye and endocrine anomalies). We report a case of segmental facial infantile haemangioma with PHACE syndrome treated successfully with oral propranolol without neurological sequelae.
Assuntos
Coartação Aórtica/complicações , Anormalidades do Olho/complicações , Neoplasias Faciais/etiologia , Hemangioma/etiologia , Síndromes Neurocutâneas/complicações , Propranolol/administração & dosagem , Administração Oral , Antagonistas Adrenérgicos beta/administração & dosagem , Progressão da Doença , Neoplasias Faciais/diagnóstico , Neoplasias Faciais/tratamento farmacológico , Hemangioma/diagnóstico , Hemangioma/tratamento farmacológico , Humanos , Recém-Nascido , MasculinoRESUMO
PHACE syndrome is an uncommon disorder of posterior fossa anomalies, cervicofacial infantile hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and midline/ventral defects. Endocrine abnormalities including hypopituitarism and ectopic thyroid were rarely described. In this article we review occurrence, onset, presenting symptoms, hormonal treatments and outcomes of all endocrine abnormalities in PHACE syndrome. Eleven of 20 (55%) had hypothalamic-pituitary dysfunction and 10 of 20 (50%) had thyroid dysgenesis. A thorough understanding of the endocrine manifestations is important for clinicians to early identify endocrine involvement in PHACE and develop plans for monitoring and treatment of its complications.
Assuntos
Anormalidades Múltiplas/etiologia , Coartação Aórtica/etiologia , Doenças do Sistema Endócrino/complicações , Anormalidades do Olho/etiologia , Síndromes Neurocutâneas/etiologia , Anormalidades Múltiplas/patologia , Coartação Aórtica/patologia , Fossa Craniana Posterior/patologia , Anormalidades do Olho/patologia , Neoplasias Faciais/etiologia , Neoplasias Faciais/patologia , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/patologia , Hemangioma/etiologia , Hemangioma/patologia , Humanos , Síndromes Neurocutâneas/patologia , SíndromeRESUMO
INTRODUCTION: Pleomorphic myxoid liposarcoma is a rare and aggressive cancer seen in the pediatric population that has been previously associated with hereditable cancer disorders like Li Fraumeni syndrome. We present a case report and review of the relevant literature. CASE PRESENTATION: Pleomorphic myxoid liposarcoma presenting as a second primary tumor in a child with a strong family history for cancer led to diagnosis of Li-Fraumeni syndrome, which is associated with TP53 tumor suppressor gene inactivation. MANAGEMENT AND OUTCOME: The tumor was fully excised, but postoperative radiation was deferred to limit future radiation-induced tumorgenesis. DISCUSSION: Pleomorphic myxoid liposarcoma is rare but aggressive, and should prompt caregivers to test for potential hereditable cancer disorders. Li-Fraumeni syndrome is associated with early onset neoplasia and development of recurrent primary tumors. Its presence affects treatment decisions and methods of surveillance. Chemoradiation should be used judiciously in this population.
Assuntos
Neoplasias Faciais/diagnóstico , Síndrome de Li-Fraumeni/complicações , Lipossarcoma Mixoide/diagnóstico , Criança , Neoplasias Faciais/etiologia , Neoplasias Faciais/terapia , Humanos , Síndrome de Li-Fraumeni/diagnóstico por imagem , Síndrome de Li-Fraumeni/patologia , Lipossarcoma Mixoide/etiologia , Lipossarcoma Mixoide/terapia , Imageamento por Ressonância Magnética , MasculinoRESUMO
Tuberous sclerosis complex (TSC) is a genetic multisystem disease with variable manifestations that can prominently involve the skin. The diagnosis of this disorder has evolved over the past two centuries. The 2012 TSC criteria emphasizes the importance of dermatological findings; orocutaneous manifestations account for 4 of 11 major criterion and 3 of 6 minor criterion. A detailed clinical dermatological evaluation is recommended for both pediatric and adult patients undergoing initial evaluation for TSC. Comprehensive dermatologic evaluation is extremely helpful when assessing these lesions and constructing a differential diagnosis.
Assuntos
Dermatopatias/patologia , Esclerose Tuberosa/patologia , Angiofibroma/etiologia , Angiofibroma/patologia , Face/patologia , Neoplasias Faciais/etiologia , Neoplasias Faciais/patologia , Fibroma/patologia , Hamartoma/etiologia , Hamartoma/patologia , Humanos , Doenças da Unha/patologia , Dermatopatias/diagnóstico , Dermatopatias/etiologia , Esclerose Tuberosa/complicaçõesRESUMO
BACKGROUND: Recent reports have suggested that the topical formulation of sirolimus is effective in treating facial angiofibromas in tuberous sclerosis complex (TSC). Here, we determined the safety and efficacy of 0.2% topical sirolimus for the treatment of facial angiofibroma and compared its effects based on age. METHOD: This was a retrospective study which involved 36 TSC patients with facial angiofibromas who were treated with 0.2% sirolimus ointment. Its effect was evaluated using the Facial Angiofibroma Severity Index (FASI). In order to observe its comparative effect based on patient age, a subgroup analysis was performed, between the adult group (> 18 years old) and the pediatric group (≤18 years old). RESULTS: The total FASI as well as its subcategories (erythema, size, and extent) showed statistically significant improvements after the topical treatment with 0.2% sirolimus ointment (FASI before treatment: 7.2 ± 1.1, FASI after treatment: 4.4± 1.4, p < 0.001). Among the subcategories of FASI, the erythema was most significantly reduced with the fastest response to the treatment. In a subgroup analysis, the pediatric group showed significantly greater improvements in FASI (improvement of FASI in the pediatric group = 49.7 ± 12.2%, adult group = 27.9 ± 15.6%, p < 0.001). The serial improvement analysis also showed that the pediatric group achieved a consistently greater improvement in FASI at all visits. Its 1-year application in 3 patients demonstrated a continuous maintenance effect. No significant adverse effects were observed. CONCLUSION: 0.2% sirolimus ointment is safe and effective for facial angiofibromas. Considering its higher efficacy in younger patients, an early initiation of the treatment is recommended.
Assuntos
Angiofibroma/tratamento farmacológico , Neoplasias Faciais/tratamento farmacológico , Imunossupressores/uso terapêutico , Sirolimo/uso terapêutico , Neoplasias Cutâneas/tratamento farmacológico , Administração Cutânea , Adolescente , Adulto , Fatores Etários , Angiofibroma/etiologia , Angiofibroma/patologia , Criança , Pré-Escolar , Eritema/tratamento farmacológico , Eritema/etiologia , Neoplasias Faciais/etiologia , Neoplasias Faciais/patologia , Feminino , Humanos , Imunossupressores/administração & dosagem , Masculino , Pessoa de Meia-Idade , Pomadas , Estudos Retrospectivos , Índice de Gravidade de Doença , Sirolimo/administração & dosagem , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/patologia , Esclerose Tuberosa/complicações , Carga Tumoral , Adulto JovemRESUMO
Importance: Most patients with tuberous sclerosis complex (TSC), an autosomal-dominant disorder that is caused by the constitutive activation of mammalian target of rapamycin, experience disfigurement caused by skin lesions involving facial angiofibromas. Many have been left untreated because of a lack of therapeutic options that are less invasive than surgery or laser treatment. Objective: To confirm the efficacy and safety of sirolimus gel, 0.2%, for treatment of patients with angiofibromas and/or skin lesions. Design, Setting, and Patients: Multicenter, randomized clinical trial at 9 centers in Japan from December 2015 to October 2016 including 62 children and adults with TSC. Interventions: Patients who developed angiofibromas were randomly assigned, in a 1:1 ratio, to receive sirolimus gel, 0.2%, or placebo, each applied topically twice daily for 12 weeks. Main Outcomes and Measures: The primary end point was composite improvement in the size and color of angiofibromas in photographs at week 12 of treatment. It was assessed by an independent review committee comprising 3 blinded dermatologists who categorized patient results into the following 6 categories: "markedly improved," "improved," "slightly improved," "unchanged," "slightly aggravated," and "aggravated." Results: Sixty-two patients (27 pediatric and 35 adult; 34 [55%] female; mean [SD] age, 22.5 [11.9] years) were enrolled and randomly assigned to receive sirolimus gel, 0.2% (30 patients), or placebo (32 patients). The response rates of angiofibromas at weeks 4, 8, and 12 of treatment were 0 each in the placebo group in contrast to 20% (95% CI, 8%-39%; P = .01), 43% (95% CI, 26%-63%; P < .001), and 60% (95% CI, 41%-77%; P < .001), respectively, in the sirolimus group. None of the 31 assessable patients in the placebo group were rated improved or better, and 26 of them (84%) were rated unchanged. In contrast, 5 (17%) and 13 (43%) patients in the sirolimus group were rated markedly improved and improved, respectively. Adverse events were mild to moderate and were observed in 27 (90%) and 22 (69%) patients in the sirolimus and placebo groups, respectively; however, none of the trial participants discontinued treatment. Acute pancreatitis developed as a serious adverse event in 1 patient in the sirolimus group, and the patient recovered soon after hospitalization without discontinuing treatment. Conclusions and Relevance: Sirolimus gel, 0.2%, demonstrated a significant clinical benefit for patients with TSC involving angiofibromas, thus providing a promising therapeutic modality. Trial Registration: ClinicalTrials.gov Identifier: NCT02635789.
Assuntos
Angiofibroma/tratamento farmacológico , Neoplasias Faciais/tratamento farmacológico , Imunossupressores/uso terapêutico , Sirolimo/uso terapêutico , Neoplasias Cutâneas/tratamento farmacológico , Esclerose Tuberosa/complicações , Administração Cutânea , Adolescente , Adulto , Angiofibroma/etiologia , Criança , Método Duplo-Cego , Neoplasias Faciais/etiologia , Feminino , Géis , Humanos , Imunossupressores/efeitos adversos , Masculino , Pessoa de Meia-Idade , Placebos/uso terapêutico , Sirolimo/efeitos adversos , Neoplasias Cutâneas/etiologia , Adulto JovemRESUMO
Importance: Facial angiofibromas occur in approximately 75% of individuals with tuberous sclerosis complex (TSC), causing substantial morbidity and disfigurement. Current therapies are partially effective, uncomfortable, produce scarring, and need repeating to treat recurrence. Objective: To evaluate the efficacy and safety of topical rapamycin for TSC-related facial angiofibromas. Design, Setting, and Participants: This prospective, multicenter, randomized, double-blind, vehicle-controlled trial with 6 monthly clinic visits enrolled 179 patients with TSC-related facial angiofibromas not treated within 6 months from May 2012 to March 2014 in 9 clinical sites in the United States and 1 in Australia. Interventions: Patients were randomized (1:1:1) to topical formulation containing 0.3 g per 30 g (1%) rapamycin, 0.03 g per 30 g (0.1%) rapamycin, or vehicle alone. Participants applied 1.0 mL to designated areas daily at bedtime. Main Outcomes and Measures: Angiofibroma Grading Scale (AGS) change from baseline scored from photographs by independent masked dermatologists. Safety analyses included adverse events (AEs) and serum rapamycin levels. Results: All 179 patients randomized (99 [55.3%] female) comprised the primary analysis population (59 in the 1% rapamycin group, 63 in the 0.1% rapamycin group, and 57 in the vehicle-only group). The mean age was 20.5 years (range 3-61 years). Clinically meaningful and statistically significant improvement in facial angiofibromas was observed for both 1% and 0.1% rapamycin relative to the vehicle-only control group, and for 1% vs 0.1% rapamycin, with most of the improvement realized within the first month. At 6 months, AGS mean improvement for 1% rapamycin was 16.7 points compared with 11.0 for 0.1% rapamycin and 2.1 points for vehicle only (P < .001 for 1% and 0.1% vs vehicle only). Compared with baseline, end-of-treatment photos were rated "better" for 81.8% of patients in the 1% rapamycin group, compared with 65.5% for those in the 0.1% rapamycin group and 25.5% for those in the vehicle-only group (P < .001, all 3 pairwise comparisons). Topical rapamycin was generally well-tolerated, with no measurable systemic absorption. Apparent drug-related adverse effects were limited to 10% or less incidence of application site discomfort and/or pain, pruritus, erythema, and irritation. Nearly all AEs were mild, with no drug-related moderate, severe, or serious events. Conclusions and Relevance: Topical rapamycin appears effective and safe for treatment of TSC-related facial angiofibromas. In this trial, the preferred dose was 1% once daily. Future studies are needed to evaluate prophylactic, early, and long-term use of topical rapamycin, durability of response, and combination therapy with oral mammalian target of rapamycin (mTOR) inhibitors. Trial Registration: ClinicalTrials.gov Identifier: NCT01526356.
Assuntos
Angiofibroma/tratamento farmacológico , Neoplasias Faciais/tratamento farmacológico , Imunossupressores/uso terapêutico , Sirolimo/uso terapêutico , Neoplasias Cutâneas/tratamento farmacológico , Esclerose Tuberosa/complicações , Administração Cutânea , Adolescente , Adulto , Angiofibroma/etiologia , Criança , Pré-Escolar , Método Duplo-Cego , Neoplasias Faciais/etiologia , Feminino , Humanos , Imunossupressores/efeitos adversos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Qualidade de Vida , Índice de Gravidade de Doença , Sirolimo/efeitos adversos , Neoplasias Cutâneas/etiologia , Fatores de Tempo , Adulto JovemAssuntos
Neoplasias Faciais/patologia , Lentigo/patologia , Nevo de Células Epitelioides e Fusiformes/patologia , Neoplasias Cutâneas/patologia , Criança , Neoplasias Faciais/etiologia , Feminino , Humanos , Lentigo/etiologia , Regressão Neoplásica Espontânea , Nevo de Células Epitelioides e Fusiformes/etiologia , Neoplasias Cutâneas/etiologiaAssuntos
Angiofibroma/tratamento farmacológico , Neoplasias Faciais/tratamento farmacológico , Recidiva Local de Neoplasia/prevenção & controle , Sirolimo/administração & dosagem , Neoplasias Cutâneas/tratamento farmacológico , Esclerose Tuberosa/tratamento farmacológico , Administração Cutânea , Adolescente , Fatores Etários , Angiofibroma/diagnóstico , Angiofibroma/etiologia , Criança , Esquema de Medicação , Custos de Medicamentos , Emolientes/administração & dosagem , Neoplasias Faciais/diagnóstico , Neoplasias Faciais/etiologia , Feminino , Humanos , Masculino , Pós , Estudos Retrospectivos , Índice de Gravidade de Doença , Sirolimo/efeitos adversos , Sirolimo/análogos & derivados , Sirolimo/economia , Creme para a Pele/administração & dosagem , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/etiologia , Comprimidos , Resultado do Tratamento , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnósticoRESUMO
Devil facial tumour (DFT) disease, a transmissible cancer where the infectious agent is the tumour itself, has caused a dramatic decrease in Tasmanian devil numbers in the wild. The purpose of this study was to take a candidate gene/pathway approach to identify potentially perturbed genes or pathways in DFT. A fusion of chromosome 1 and X is posited as the initial event leading to the development of DFT, with the rearranged chromosome 1 material now stably maintained as the tumour spreads through the population. This hypothesis makes chromosome 1 a prime chromosome on which to search for mutations involved in tumourigenesis. As DFT1 has a Schwann cell origin, we selected genes commonly implicated in tumour pathways in human nerve cancers, or cancers more generally, to determine whether they were rearranged in DFT1, and mapped them using molecular cytogenetics. Many cancer-related genes were rearranged, such as the region containing the tumour suppressor NF2 and a copy gain for ERBB3, a member of the epidermal growth factor receptor family of receptor tyrosine kinases implicated in proliferation and invasion of tumours in humans. Our mapping results have provided strong candidates not previously detected by sequencing DFT1 genomes.
Assuntos
Biomarcadores Tumorais , Transformação Celular Neoplásica/genética , Neoplasias Faciais/etiologia , Predisposição Genética para Doença , Transformação Celular Neoplásica/metabolismo , Aberrações Cromossômicas , Mapeamento Cromossômico , Neoplasias Faciais/metabolismo , Neoplasias Faciais/patologia , Estudos de Associação Genética , Humanos , CariótipoRESUMO
Myopericytoma is a slow-growing, benign soft tissue neoplasm that arises from perivascular smooth muscle cells. This tumor is a rare entity itself, but it is only scarcely mentioned in the literature occurring secondary to trauma. The authors report a 21-year-old male patient who presented with a pulsatile mass in the medial canthal area where he had experienced previous trauma from a car accident 1-year prior. The mass was excised and histopathology revealed myopericytoma. This clinical report adds to the limited body of evidence supporting trauma as an etiology for this rare tumor.
Assuntos
Neoplasias Faciais/patologia , Hemangiopericitoma/patologia , Neoplasias de Tecidos Moles/patologia , Traumatismos Faciais/complicações , Neoplasias Faciais/etiologia , Hemangiopericitoma/etiologia , Humanos , Masculino , Neoplasias de Tecidos Moles/etiologia , Adulto JovemRESUMO
Dermal filler injection has been one of the most evolving areas of interest in the field of esthetic plastic surgery. This procedure is sometimes preferred to surgery due to shorter procedure and patient recovery times, and because it is suitable for a wide range of applications. Dermal filler injection is considered to be relatively safe, but various late complications such as infection and foreign body granuloma sometimes occur. Postprocedure development of lymphoma also occurs, but is extremely rare. The authors diagnosed extranodal marginal zone B-cell lymphoma of the mucosa associated lymphoid tissue that developed after a filler injection procedure was performed on a patient's face. This 72-year-old female first presented with a palpable mass on her left cheek that developed after a probable silicone injection. An magnetic resonance imaging (MRI) scan and excisional biopsy confirmed the presence of the lymphoma. Complete remission occurred after radiotherapy. This rare case of lymphoma in a patient with a history of foreign body injection indicated that practitioners must be aware that long-standing chronic inflammation resulting from dermal filler injections can trigger lymphoma development.
Assuntos
Preenchedores Dérmicos/efeitos adversos , Neoplasias Faciais/etiologia , Linfoma de Zona Marginal Tipo Células B/etiologia , Idoso , Bochecha/patologia , Neoplasias Faciais/diagnóstico , Neoplasias Faciais/radioterapia , Feminino , Granuloma de Corpo Estranho/diagnóstico por imagem , Granuloma de Corpo Estranho/etiologia , Humanos , Injeções , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/radioterapia , Imageamento por Ressonância Magnética , Indução de RemissãoRESUMO
Brown tumors are a definitive feature of hyperparathyroidism. They are well-demarcated osteolytic lesions commonly in the appendicular skeleton. Primary hyperparathyroidism is typically suggested by hypercalcemia and hypophosphatemia on routine labs. Much more rarely do these cases present with a craniofacial mass. Here we investigate a unique presentation of terminal stage primary hyperparathyroidism with a growing maxillary mass emphasizing the importance of a broad differential diagnosis and key diagnostic studies. Hyperparathyroidism can present in very unique ways. As otolaryngologists in the frontline, we must think beyond just tissue diagnoses so that appropriate and expedited care may be implemented. Laryngoscope, 127:1318-1321, 2017.