ABSTRACT
La neurofibromatosis (NF) comprende un grupo de enfermedades genéticas de herencia autosómica dominante, que se clasifican de la siguiente manera: neurofibromatosis tipo 1 (NF1), neurofibromatosis tipo 2 (NF2) y schwannomatosis (también conocida como neurofibromatosis tipo 3). Esta última es una enfermedad muy infrecuente, con una prevalencia aproximada de 1/126 000 personas, por lo que solo profundizaremos las dos primeras. La NF1, también conocida como la enfermedad de Von Recklinghausen, es la más frecuente de las tres y afecta principalmente la piel y el sistema nervioso periférico. Se caracteriza por la presencia de máculas "café con leche", pecas axilares o inguinales, nódulos de Lisch (hamartomas en el iris) y neurofibromas (tumores de la vaina de nervios periféricos). Otras manifestaciones menos frecuentes, aunque de mayor gravedad, incluyen gliomas del nervio óptico, meningiomas, neurofibromas malignos, escoliosis y displasia de la tibia. Su diagnóstico se suele realizar al nacimiento o durante los primeros años de vida, y se estima que un 50% de quienes la padecen presenta dificultades cognitivas. No hay datos concluyentes sobre la mortalidad en los pacientes con NF1, aunque se sabe que la expectativa de vida es menor que en la población general. La NF2 tiene una prevalencia considerablemente menor que la NF1 y su inicio es más tardío, afectando principalmente a adultos jóvenes. La presentación clínica típica se caracteriza por acúfenos, hipoacusia y ataxia en contexto de la presencia de schwannomas vestibulares bilaterales. Otros hallazgos menos frecuentes incluyen schwannomas de nervios periféricos, meningiomas, ependimomas o astrocitomas. La esperanza de vida es de unos 36 años, con una supervivencia media desde el momento del diagnóstico de 15 años. (AU)
Neurofibromatosis (NF) includes a group of genetic diseases with an autosomal-dominant inheritance pattern, and they are classified as follows: Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and Schwannomatosis (also known as neurofibromatosis type 3). This last one is a very rare disease, with an approximate prevalence of 1/126000, so we will only deepen in the first two. NF1, also known as von Recklinghausen disease, is the most frequent, and mainly affects the skin and peripheral nervous system. Its typical manifestations are the presence of café-au-lait macules, axillary or inguinal freckles, Lisch nodules (hamartomas in the iris) and neurofibromas (peripheral nerve sheath tumors). Less frequent manifestations, although more serious, include optic nerve gliomas, meningiomas, malignant neurofibromas, scoliosis and tibial dysplasia. The diagnosis is usually made at birth or during the first years of life, and approximately 50% of patients present cognitive difficulties. There is no conclusive data on mortality in patients with NF1, although it is known that life expectancy is lower than in general population. NF2 has a considerably lower prevalence than NF1, and its onset is later in life, mainly affecting young adults. Its typical clinical presentation is characterized by tinnitus, hearing loss and ataxia in the context in the presence of bilateral vestibular schwannomas. Less frequent findings include peripheral nerve schwannomas, meningiomas, ependymomas or astrocytomas. Life expectancy is about 36 years old, with a median survival from the moment of diagnosis of 15 years. (AU)
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Adult , Young Adult , Neurofibromatosis 2/etiology , Neurofibromatosis 1/etiology , Neurofibromatoses/classification , Astrocytoma/physiopathology , Ataxia , Scoliosis/physiopathology , Tibia/abnormalities , Tinnitus , Bone Diseases, Developmental/physiopathology , Neuroma, Acoustic/complications , Life Expectancy , Neurofibromatosis 2/epidemiology , Neurofibromatosis 1/physiopathology , Neurofibromatosis 1/mortality , Neurofibromatosis 1/epidemiology , Neurofibromatoses/diagnosis , Optic Nerve Glioma/physiopathology , Ependymoma/physiopathology , Hearing Loss , Iris Diseases/physiopathology , Melanosis/physiopathology , Meningioma/physiopathology , Neurilemmoma/etiology , Neurilemmoma/physiopathology , Neurofibroma/physiopathology , Neurofibroma/pathologyABSTRACT
La melanosis gingival o pigmentación melánica fisiológica es definida como una alteración caracterizada por un cambio en la coloración de la encía, en la cual la encía adquiere una tinción oscura ocasionada por una acumulación de melanina. Objetivo El propósito de esta revisión fue evaluar la literatura actual sobre el grado de repigmentación gingival luego del tratamiento de la melanosis. Material y método Búsqueda detallada en las bases de datos PubMed, Cochrane y Embase para obtener la información sobre las técnicas de tratamiento y resultados posoperatorios de cada procedimiento quirúrgico. Resultados De los 219 artículos identificados inicialmente, 22 cumplieron con los criterios de inclusión (reportes de casos, series de casos, ensayos clínicos y revisiones sistemáticas). Las técnicas con el escalpelo evidenciaron una repigmentación al cabo de 3 meses a 3 años y las técnicas con el uso de láser diodo entre 18-24 meses. Las técnicas de criocirugía, electrocirugía, laser Er:YAG y láser Nd:YAG evidenciaron escasa o nula repigmentación. Conclusión La repigmentación melánica es más común en las técnicas que utilizan el escalpelo, siendo el rango de recurrencia entre 3 meses a 3 años. La heterogeneidad de los estudios limita la realización de un metaanálisis con respecto a los resultados de tratamiento de la melanosis gingival.
Gingival melanosis or physiological gingival melanin pigmentation is a disorder that causes a change in the colour of the gums, which acquire a dark stain caused by an accumulation of melanin Objective The purpose of this review was to assess the current literature on treatment of gingival melanosis and assessing the degree of gingival repigmentation. Material and method A detailed search was conducted in the PubMed, Cochrane and Embase databases for information on treatment techniques and post-operative results of each surgical procedure. Results Of the 219 articles initially identified, 22 met the inclusion criteria (case reports, case series, clinical trials, and systematic reviews). Scalpel techniques showed a repigmentation after 3 months - 3years, and techniques using laser diode between 18-24 months. Techniques with cryosurgery, electro-surgery, Er: YAG laser and Nd: YAG laser showed little or no repigmentation. Conclusion Melanin repigmentation is more common in techniques that use the scalpel, with recurrences ranging from between 3months and 3years. The heterogeneity of the studies limited the performing of a meta-analysis on the results of treatment of gingival melanosis.
Subject(s)
Humans , Gingival Diseases/physiopathology , Gingival Diseases/therapy , Melanosis/physiopathology , Melanosis/therapy , RecurrenceABSTRACT
Melasma is a chronic acquired hypermelanosis of the skin, characterized by irregular brown macules symmetrically distributed on sun-exposed areas of the body, particularly on the face. It is a common cause of demand for dermatological care that affects mainly women (especially during the menacme), and more pigmented phenotypes (Fitzpatrick skin types III-V). Due to its frequent facial involvement, the disease has an impact on the quality of life of patients. Its pathogeny is not yet completely understood, although there are some known triggering factors such as sun exposure, pregnancy, sexual hormones, inflammatory processes of the skin, use of cosmetics, steroids, and photosensitizing drugs. There is also a clear genetic predisposition, since over 40% of patients reported having relatives affected with the disease. In this manuscript, the authors discuss the main clinical and epidemiological aspects of melasma.
Subject(s)
Female , Humans , Male , Melanosis/epidemiology , Melanosis/etiology , Melanosis/pathology , Melanosis/physiopathology , Quality of Life , Risk Factors , Sex Factors , Skin/pathologyABSTRACT
Melasma é hipermelanose crônica, localizada, simétrica adquirida, que acomete áreas fotoexpostas, preferencialmente a face, o que causa estresse emocional. Ocorre de forma mais frequente entre mulheres adultas. Sua patogênese não é totalmente compreendida apesar de alguns fatores de risco serem conhecidos, como história familiar, exposição solar, gravidez, hormônios sexuais, cosméticos e medicamentos fotossensibilizantes. Há evidente predisposição genética, já que mais de 40% dos pacientes referem familiares acometidos. O principal objetivo deste estudo foi avaliar os fatores de risco para o desenvolvimento de melasma facial em mulheres. Realizou-se estudo caso-controle envolvendo mulheres adultas, portadoras ou não de melasma facial, pareadas por idade. As variáveis foram agrupadas em níveis hierárquicos: dados constitucionais, variáveis de exposição, variáveis ligadas à estímulos hormonais e traços de ansiedade, avaliados pelo questionário IDATE-T; e analisados por regressão logística múltipla condicional. Pacientes com melasma apresentaram, preferencialmente, fototipos III a V, iniciaram sua doença entre a terceira e quarta décadas de vida, referiram frequente acometimento familiar e ascendência europeia e indígena. Do ponto de vista clínico, houve maior acometimento de topografias centrais da face e os principais fatores desencadeantes foram a gestação, insolação e contraceptivo oral combinado. Quando comparados aos controles, mulheres com melasma diferiram de seus controles quanto aos fototipos, ascendência indígena (OR=2,25), anos de moradia rural/praia (OR=1,07), tempo de trabalho exposto ao sol (OR=1,05), tempo de atividades de lazer exposto ao sol (OR=1,03), uso de antidepressivo/ansiolítico (OR=5,11), irregularidade menstrual (OR=3,99), histórico de gestação (OR=3,58), anos de uso de contraceptivo oral (OR=1,24) e escores de ansiedade (OR=1,07)...
Subject(s)
Humans , Female , Adult , Case-Control Studies , Melanosis/etiology , Melanosis/physiopathology , Pigmentation Disorders , Risk FactorsABSTRACT
Melasma is a commonly acquired hypermelanosis of facial skin due to various etiological factors including hormonal imbalance. To find out the relationship between hormonal imbalance and melasma in females. One hundred and fifty female patients suffering from melasma, between the ages of 17-45 years, were enrolled in the study. They were examined by Wood's lamp to see the type of melasma whether epidermal, dermal or mixed [dermoepidermal]. Patients were investigated for levels of estrogen, progesterone and prolactin in two consecutive follicular and luteal phases on 9[th] and 18[th] day of cycle, respectively. Forty control cases were also investigated for the aforementioned hormonal levels in their follicular and luteal phases. Out of 150 patients, 138 completed the study while 12 patients were lost to follow up. Amongst the 138 evaluable patients, there were only 4 patients who had normal values for all the three hormones i.e. estrogen, progesterone and prolactin in all four phases. Fifteen patients [10.9%] had normal values of estrogen in both follicular [Fl and F2] and luteal phases [LI and L2] while the remaining 123 patients [89.1%] had deranged values of estrogen [mostly increased] in any of the four phases. The values of progesterone were normal in 62 [44.9%] patients while they were deranged in 76 [55.1%] patients in all four phases. The levels of prolactin were normal in 134 [97.1%] patients while deranged in 4 [2.9%]. Out of 40 controls, only 3 [7.5%] had increased values of estrogen in both follicular and luteal phases. Estrogen is found to be the causative agent of melasma
Subject(s)
Humans , Female , Middle Aged , Adolescent , Young Adult , Adult , Melanosis/physiopathology , Melanosis/blood , Estrogens/adverse effects , Progesterone/blood , Prolactin/bloodABSTRACT
El melasma es un desorden pigmentario simétrico que afecta áreas fotoexpuestas de mujeres, y que también ha sido descrito en hombres. Esto hiperpigmentación es inducido, principalmente por lo radiación ultravioleta y por factores hormonales, entre otros. Su patogénesis no es del todo conocido y su tratamiento a la fecha es difícil. La mayoría de los agentes despigmentontes actúan o diferentes niveles de la biosíntesis de lo melanina y de su transferencia al queratinocito. Éstos agentes pueden asociarse entre sí, o utilizarse por si solo. Las terapias físicas como el tratamiento químico abrasivo, la dermabrasión y el láser también han sido descritas.
Melasma is an acquired symmetrical pigmentary disorder that affects sun-exposed skin in females, but is also present in men. The hyperpigmentation is mostly induced by ultraviolet radiation and hormones among others. The pathogenesis remains largely unknown and treatment is still nowadays difficult. Most of the lightening agents acts at different levels of the biosynthesis of melanin and its transfer to keratinocytes. These agents may be used alone or in combination between them. Physical therapy, such as peeling. dermabrasion and laser, have also been described.
Subject(s)
Humans , Melanosis/physiopathology , Melanosis/therapy , Dermatologic Agents/therapeutic use , Antioxidants/therapeutic use , Chemexfoliation , Combined Modality Therapy , Dermabrasion , Diagnosis, Differential , Laser Therapy , Melanosis/etiology , Melanosis/pathology , Ultraviolet Rays/adverse effectsABSTRACT
Melasma é uma dermatose comum que cursa com alteração da cor da pele normal, resultante da hiperatividade melanocítica focal epidérmica de clones de melanócitos hiperfuncionantes, com consequente hiperpigmentação melânica induzida, principalmente, pela radiação ultravioleta. Clinicamente, caracteriza-se por manchas acastanhadas, localizadas preferencialmente na face, embora possa acometer também região cervical, torácica anterior e membros superiores.Mulheres em período fértil e de fototipos intermediários representam as populações mais acometidas. Grande parte de sua fisiopatogenia permanece desconhecida, havendo relação com fatores genéticos, hormonais, uso de medicamentos, cosméticos, endocrinopatias e fotoexposição. Os autores discutem os principais elementos relacionados à pigmentação da pele e ao desenvolvimento do melasma.
Melasma is a common dermatosis that involves changes in normal skin pigmentation, resulting from the hyperactivity of epidermal melanocytes. The consequent hyperpigmentation is mostly induced by ultraviolet radiation. Clinically, melasma is characterized by light to dark brown macules that usually occur on the face, although they can also affect the cervical and anterior thoracic regions and upper members.Fertile age women and those with intermediate skin phototypes are most likely to develop melasma. Most of its physiopathogenics is not yet fully understood, but there is a relation with genetic and hormonal factors, drugs and cosmetics use, endocrinopathies and sun exposure. The authors discuss the main aspects associated with skin pigmentation and the development of melasma.
Subject(s)
Humans , Melanosis/physiopathology , Melanosis/etiology , Melanosis/pathologyABSTRACT
En nueve pacientes con melasma idiopática se encontraron niveles bajos de gonadotropinas y altos niveles de estrógenos en la folicular, así como también niveles bajos de progesterona en la fase lútea, cuando se compararon con pacientes controles. Estos resultados estuvieron de acuerdo con observaciones previas de la melasma en estados caracterizados por altos niveles de estrógenos tales como el embarazo y el uso de anticonceptivos hormonales. Es posible que estos pacientes tengan moderada disfunción ovárica (subclínica). Ya que los estrógenos están involucrados en el proceso pigmentario, es posible que esta anormalidad esté relacionada a la patogénesis del melasma idiopático
Subject(s)
Humans , Female , Adult , Estrogens/analysis , Estrogens , Gonadotropins/analysis , Gonadotropins/deficiency , Melanosis/diagnosis , Melanosis/physiopathology , Progesterone/analysis , Progesterone/deficiencyABSTRACT
O Nevo de Ota é caracterizado pela melanose da pele da face na área suprida pelo primeiro (e segundo) ramo do nervo trigêmio. É associado com pigmentaçäo ipsilateral da episclera, trato uveal, conjuntiva e fundus. A condiçäo é usualmente unilateral, ocorrendo principalmente em indivíduos melanodérmicos e em orientais. Raramente tem potencial maligno, e quando ocorre, acomete mais frequentemente indivíduos da raça branca. Pode ser associado com diversas anormalidades oculares, como catarata congênita, Síndrome de Duane e glaucoma. Neste estudo, säo descritos dois casos de glaucoma secundário a Nevo de Ota e é enfatizada a importância do seu diagnóstico precoce