Assuntos
Síndrome de Proteu , Feminino , Humanos , Dermatologistas , Síndrome de Proteu/diagnóstico , Pré-EscolarRESUMO
OBJECTIVES: Proteus syndrome (PS) is an extremely rare disorder with asymmetric and disproportionate bone overgrowth. Craniofacial abnormalities in PS are less frequent than skeletal abnormalities. Although there are recognized oral and maxillofacial manifestations of PS, few case reports describing these manifestations are available. Thus, the objective of this systematic review and case report is to describe oral and maxillofacial manifestations of PS and to report a PS case. METHODS: A 31-year-old male presented with restricted mouth opening and pain during mastication. A panoramic radiograph and an occlusal radiograph were obtained. Reports with relevant keywords were assessed. Data were summarized and demonstrated using a critical appraisal checklist for case reports. RESULTS: The panoramic radiograph demonstrated unilateral overgrowth of the mandible, impacted teeth, and deciduous prolonged retention. Thirteen PS case reports were identified. CONCLUSIONS: Proteus syndrome oral and maxillofacial manifestations may include dental agenesis, impacted teeth, malocclusion, asymmetric dental growth and maturation, frontal line displacement, asymmetric tongue enlargement, mandibular hemihypertrophy and asymmetry, presence of exostoses/hyperostosis, degenerative changes in the temporomandibular joint, alterations of maxillary and mandibular vertical and/or horizontal growth, and enlargement of mandibular canal and foramen. The PROSPERO systematic review registration number is CRD42019140942.
Assuntos
Síndrome de Proteu , Dente Impactado , Adulto , Humanos , Masculino , Mandíbula , Maxila , Síndrome de Proteu/diagnóstico por imagem , Radiografia PanorâmicaRESUMO
Introducción: El síndrome de Proteus es un raro síndrome hamartomoso congenito con manifestaciones neuroectodérmicas, de carácter progresivo y grado de severidad variable. Objetivo: Presentar un caso clínico donde se combinan dismorfias faciales, crecimiento excesivo de una hemicara, macrocráneo y manifestaciones neurológicas. Presentación del caso: lactante de 10 meses, femenina, con antecedentes de embarazo de riesgo, hija de madre adolescente, con exposición fetal a tabaco, marihuana y alcohol; nació con macrocefalia, dismorfia facial con hemihipertrofia derecha y nevó hiperpigmentado que comenzó con espasmos infantiles desde el primer mes vida y se diagnosticó síndrome west de etiología estructural con hemimegancefalia derecha. Cumple los criterios clínicos de síndrome de Proteus y tuvo una respuesta favorable con control de los espasmos, mejoría de la hipsarritmia y del desarrollo psicomotor, con tratamiento combinado de hormona adenocorticotrópica y vigabatrina. Conclusiones: el síndrome de Proteus se caracteriza por crecimiento exagerado en varios tejidos (epidérmico, conectivo, óseo, adiposo y endotelial) durante la embriogénesis, por lo que las manifestaciones clínicas suelen ser evidentes desde el nacimiento o en los primeros años de vida, se relaciona con un grupo de casos con malformaciones del sistema nervioso central y síndrome de West(AU)
Introduction: Proteus syndrome is a rare congenital hamartoma syndrome with neuroectodermal manifestations of progressive kind and a degree of variable severity. Objective: To present a clinical case where facial diysmorphias, the excessive growth of a hemicara, a macro-skull, and neurological manifestations are combined. Case presentation: A 10-month-old female infant with a history of risky pregnancy, daughter of a teenage mother, with fetal exposure to tobacco, marijuana and alcohol. She was born with macrocephaly, facial dysmorphia with right hemihypertrophy, hyperpigmented nevus that started with infantile spasms from the first month of life; and West syndrome of structural etiology with right hemimegalencephaly was diagnosed. The patient meets the clinical criteria of Proteus syndrome and she had a favorable response to the combined treatment of adrenocorticotropic hormone and Vigabatrin with control of spasms, improvement of hypsarrhythmia and psychomotor development. Conclusions: Proteus syndrome is characterized by exaggerated growth in various tissues (epidermal, connective, bone, adipose and endothelial) during embryogenesis, so that clinical manifestations are usually evident from birth or in the first years of life. It is related with a group of cases with malformations of the central nervous system and West syndrome(AU)
Assuntos
Humanos , Feminino , Lactente , Espasmos Infantis/diagnóstico , Síndrome de Proteu/complicaçõesRESUMO
Introducción: El método científico es un método general, constituido por varias etapas necesarias en el desarrollo de toda investigación científica. Es la forma de abordar la realidad y estudiar los fenómenos de la naturaleza, para descubrir su esencia y sus interrelaciones. El método clínico es la aplicación particular del método científico en el ejercicio de la práctica médica, y en las condiciones económicas actuales prevalecientes a nivel mundial resulta de inestimable valor su aplicación por las ventajas que reporta desde ese punto de vista, así como también por el bienestar del paciente que no es sometido a innecesarios y costosos procedimientos diagnósticos. Objetivo: Proporcionar al personal médico los criterios clínicos para lograr, mediante el uso del método clínico, el diagnóstico de algunos síndromes genéticos; los que han sido elaborados luego de una exhaustiva delineación clínica de estos. Métodos: Se realizó una revisión de los textos básicos de genética clínica y sindromología con independencia del año de su publicación y se realizó una búsqueda en las bases de datos Medline, Lilacs y Cochrane en el periodo comprendido entre 2012 y 2016. Conclusiones: Fueron reflejados los criterios establecidos para el diagnóstico clínico de catorce síndromes genéticos(AU)
Introduction: The scientific method is a general method which consists of several stages necessary for the development of all scientific research. It is the way to approach reality and to study the phenomena of nature, to discover their essence and interrelations. The clinical method is the particular application of the scientific method in the medical practice, and in the current economic conditions prevailing worldwide, its application is of inestimable value because of the advantages it brings from that point of view, as well as for the well-being of the patient, who would not be subjected to unnecessary and expensive diagnostic procedures. Objective: To provide the medical personnel with the clinical criteria to achieve, through the use of the clinical method, the diagnosis of some genetic syndromes. Such criteria have been elaborated after an exhaustive clinical description of those conditions. Methods: A review of basic texts of clinical genetics and syndromology was carried out regardless the year of publication. A search was carried out in the databases Medline, Lilacs and Cochrane, in the period between 2012 and 2016. Conclusions: The criteria established for the clinical diagnosis of fourteen genetic syndromes have been presented(AU)
Assuntos
Humanos , Masculino , Feminino , Transtornos da Pigmentação/diagnóstico , Esclerose Tuberosa/diagnóstico , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Proteu/diagnóstico , Neurofibromatose 1/diagnóstico , Síndrome de Williams/diagnóstico , Síndrome de Ehlers-Danlos/diagnóstico , Doenças Genéticas Inatas , Síndrome de Marfan/diagnósticoRESUMO
El síndrome de Proteus corresponde a una entidad poco frecuente caracterizada por un sobrecrecimiento progresivo de piel, tejido óseo y adiposo, debido a una mutación somática activante del gen AKT1. Existen distintas manifestaciones cutáneas entre las que se incluyen nevo cerebriforme de tejido conectivo plantar, nevo epidérmico, malformaciones vasculares y trastornos del tejido adiposo que pueden alertar al dermatólogo para poder diagnosticar esta condición, permitiendo un manejo precoz que impida el desarrollo de complicaciones y la muerte temprana. Presentamos el caso de una paciente de 9 años cuya historia clínica y examen físico reflejan los hallazgos clásicos del síndrome de Proteus, recalcando la importancia de un manejo multidisciplinario oportuno.
Proteus syndrome is a rare condition characterized by a progressive overgrowth of skin, bone tissue and adipose tissue, due to an activating somatic mutation of the AKT1 gene. Different cutaneous manifestations that include cerebriform connective tissue nevi, epidermal nevus, vascular malformations and adipose tissue disorders can alert the dermatologist to diagnose this condition, allowing an early management that prevents the complications and early death. We present the case of a 9-year-old patient whose clinical history and physical examination reflect the classic findings of Proteus syndrome, highlighting the importance of a multidisciplinary management.
Assuntos
Humanos , Feminino , Criança , Síndrome de Proteu/diagnóstico , MutaçãoRESUMO
Abstract: CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.
Assuntos
Humanos , Masculino , Pré-Escolar , Malformações Vasculares/diagnóstico , Lipoma/diagnóstico , Anormalidades Musculoesqueléticas/diagnóstico , Nevo/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Tecido Adiposo/anormalidades , Malformações Vasculares/diagnóstico por imagem , Fotografia , Lipoma/diagnóstico por imagem , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Nevo/diagnóstico por imagemRESUMO
INTRODUÇÃO: A síndrome de Proteus é uma doença complexa e rara, classificada nos grupo das hamartoses. Foi primeiramente descrita em dois pacientes, em 1979, por Cohen e Hayden. Existe dificuldade no diagnóstico, sendo comum a confusão com síndromes de Klippel-Trenaunay-Weber, neurofibromatose ou Stuge-Weber. Apresentamos dois casos tratados no Serviço de Cirurgia Plástica e Reparadora da Universidade Federal do Paraná. MÉTODO: Paciente masculino (caso 1), que chegou ao serviço aos 6 anos de idade, tendo como principais apresentações lipomatoses e assimetrias. A segunda paciente (caso 2) deu entrada no serviço com 20 anos de idade e diagnóstico de síndrome de Klippel-Trenaunay-Weber, que posteriormente mostrou se tratar de síndrome de Proteus. CONCLUSÃO: A hipótese etiológica mais aceita para a doença é genética. Acredita-se que exista mosaicismo somático e que a doença seja letal no estado não mosaico. Morte prematura é bastante frequente. Entretanto, a sequela mais comum é a ocorrência de tumores incomuns. O cuidado dos pacientes portadores da síndrome é um desafio devido às suas consequências médicas e psicossociais.
INTRODUCTION: Proteus syndrome is a complex and rare disorder classified as a hamartomatous disease. It was first described in two patients in 1979, by Cohen and Hayden. Proteus syndrome is difficult to diagnose, and is often confused with Klippel-Trenaunay-Weber syndrome, neurofibromatosis, or Sturge-Weber syndrome. In this study we describe two patients who were treated at the Plastic and Reconstructive Surgery Service of the Federal University of Paraná. METHOD: A 6-year-old male patient (case 1) presented to the Service with lipomatosis and asymmetry, as the primary findings. A 20-year-old (case 2) was admitted to the Service with a diagnosis of Klippel-Trenaunay-Weber syndrome, which later was shown to be Proteus syndrome. CONCLUSION: The etiological hypothesis that is most accepted for this disease is genetic. It is believed that somatic mosaicism may occur during pathogenesis, which can be lethal in the mosaic state. Premature death is common. However, the most common sequelae are the occurrence of unusual tumors. The care of patients with this syndrome is a challenge due to medical and psychosocial consequences.
Assuntos
Humanos , Masculino , Feminino , Criança , História do Século XXI , Adulto Jovem , Cirurgia Plástica , Síndrome do Hamartoma Múltiplo , Síndrome de Proteu , Doenças Raras , Gigantismo , Hamartoma , Doenças Genéticas Inatas , Lipomatose , Cirurgia Plástica/métodos , Síndrome do Hamartoma Múltiplo/cirurgia , Síndrome do Hamartoma Múltiplo/mortalidade , Síndrome do Hamartoma Múltiplo/patologia , Síndrome de Proteu/cirurgia , Síndrome de Proteu/patologia , Doenças Raras/patologia , Gigantismo/cirurgia , Gigantismo/patologia , Hamartoma/cirurgia , Hamartoma/patologia , Doenças Genéticas Inatas/cirurgia , Doenças Genéticas Inatas/patologia , Lipomatose/cirurgia , Lipomatose/patologiaRESUMO
El síndrome de Proteo es un raro y complejo trastorno genético caracterizado por aparición esporádica, distribución en mosaico y evolución progresiva de lesiones hamartomatosas, que afectan la mayoría de los tejidos de origen mesodérmico. El diagnóstico es clínico y se establece según criterios bien establecidos. Se presenta un caso típico en un escolar de ocho años de edad con manifestaciones clínicas compatibles con el diagnóstico de este síndrome. Se realizó estudio y descripción clínica del hábito externo; se destacaron como principales rasgos distintivos: hemihipertrofia progresiva de región glútea, pierna y pie izquierdo, hemangioma plano y dilatación de venas hipogástricas en abdomen, escoliosis dorso-lumbar y cifosis dorsal marcada, aumento del tejido graso en el dorso, aspecto cerebriforme de la piel de la planta del pie izquierdo e hiperostosis mastoidea. Por lo poco común de esta entidad se decidió la presentación del caso.
Proteus syndrome is a rare and complex genetic disorder characterized by sporadic occurrence, mosaic distribution and gradual evolution of hamartomatous lesions, affecting most of the mesodermal tissues. Diagnosis is performed on clinical basis and according to well-established criteria. A typical case of an 8-year-old schoolchild with clinical manifestations consistent with the diagnosis of this syndrome is presented. A clinical study and description of the body habitus was conducted. The main distinctive features were: progressive hemihypertrophy of the gluteal region, left leg and foot, flat hemangioma and dilatation of hypogastric veins in the abdomen, dorso-lumbar scoliosis and marked dorsal kyphosis, increased adipose tissue in the back, cerebriform aspect of the skin of the sole of the left foot as well as hyperostosis of the mastoid bone. This case is presented due to the rarity of the entity.
RESUMO
OBJECTIVES: This paper describes the clinical diagnosis of Proteus syndrome (PS) in children referred for evaluation of asymmetric disproportionate overgrowth. MATERIALS AND METHODS: Retrospective, descriptive, cross-sectional study conducted from January 1998 to December 2010. RESULTS: During the study period, 2011 new patients were evaluated. Thirteen (0.65%) patients presented features suggestive of PS. These patients were formally evaluated based on the revised diagnostic criteria proposed by Biesecker. The mean age was 6.92 ± 5.1 years. Ten patients (76.9%) were females. All subjects had asymmetric disproportionate overgrowth. Other dysmorphic features were as follows: macrodactily (84.6%); linear epidermal nevus (41.6%); hemangioma (30.7%); and lipoma (23%). Six patients fulfilled the diagnostic criteria for PS. CONCLUSIONS: The diagnostic rate of only 46.1% of patients with PS confirms the diagnostic difficulties and the need for continuous monitoring and periodic review of these patients since the clinical manifestations of this syndrome become more evident with aging. Molecular tests may help the differential diagnosis of Proteus syndrome when they became commercially available.
RESUMO
El síndrome de Proteus es un complejo y raro desorden caracterizado por malformaciones y sobre crecimiento asimétrico de diferentes partes del cuerpo por la presencia de múltiples tejidos a modo de mosaico: nevus de tejido conectivo, nevus epidérmicos, hamartomas, lipomas, malformaciones vasculares, linfáticas y desregulación del tejido adiposo, de gran variabilidad clínica. Ponemos a consideración dos casos de síndrome de Proteus que acudieron a la consulta de Genética: la primera paciente derivada de Neurocirugía por dismorfia cráneo facial y el segundo paciente fue referido de un centro asistencial periférico por el médico pediatra, con la sospecha diagnóstica de este síndrome. En los últimos años, se ha hecho énfasis en la delimitación rigurosa de los criterios diagnósticos de esta patología, debido a los errores frecuentes de interpretación de los mismos (AU)
Proteus syndrome (PS) is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable and appears to affect patients in a mosaic pattern: epidermal nevi, connective tissue nevi, hamartomas, lipomas, vascular and lymphatic malformations and dysregulated adipose tissue.We present two cases of PS, one of them, was refered from pediatric neurosurgeon due to cranial and face dysmorphia, the second one was refered with PS diagnosis from his pediatrician.During the last years,medical community has remarked that is necessary to make a very careful interpretation of the diagnostic criteria of this pathology, because them were misunderstood and is possible the overdiagnosis of this pathology (AU)