ABSTRACT
Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome. Diagnosis is based on clinical findings that meets the criteria developed by the NIH in 1997, which remain highly sensitive and specific in adults, but not in children, in which the manifestations vary with age. In children under 2 years in the pretumoral stage with a negative family history, it would be useful to have additional clinical diagnostic criteria. Genetic testing is not widely available and although café-au-lait spots remain the cardinal and most frequent clinical sign, they cannot make the diagnosis of NF-1 on their own. (AU)
Subject(s)
Humans , Male , Child, Preschool , Adolescent , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/genetics , Neurofibromatosis 1/pathology , Cafe-au-Lait Spots/diagnosis , Cafe-au-Lait Spots/pathologyABSTRACT
Onychomicosis was considered uncommon in children. During recent years an increase in its frequency has been reported in children worldwide. This survey was carried out to estimate the frequency of causal agents of fungal nail infections in children and adolescents (0-15 years of age) during the period 2006-2016 in the Skin Laboratory of Clinical Hospital, University of Chile. It was a descriptive, retrospective analysis of all positive culture of children nails. A total of 1626 culture was analyzed. Cultures were positive in 417 cases (25,6%). Average age of patients with positive culture was 9,37 ages. Of the total positive culture, 42,9% was females and 57,1% was males. Toenails were more affected (90,6%) than finger nails. Trichophyton rubrum (66,9%), was the predominant pathogen isolated followed by Candida spp (26,1%) Trichophyton rubrum + Candida spp (3,8%) Trichophyton mentagrophytes (2,6%) and Trichophyton rubrum + Trichophyton mentagrophytes (0,5%). Fungal fingernail infection by Candida spp. was the most common (66,7%) and Trichophyton rubrum was the most common in toenail (70,6%). We found a decrease of Candida spp. with age. The results of our study show that onycomichosis in children and adolescents is not exceptional and should be considered in the differential diagnosis of nail plate disorder in children. (AU)
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Onychomycosis/diagnosis , Onychomycosis/epidemiologySubject(s)
Humans , Adolescent , Female , Vulvar Diseases/drug therapy , Lidocaine/administration & dosage , Sucralfate/administration & dosage , Ulcer/drug therapy , Administration, Topical , Diagnosis, Differential , Drug Therapy, Combination , Vulvar Diseases/diagnosis , Ointments , Ulcer/diagnosisABSTRACT
El Síndrome de Buschke-Ollendorf es una rara entidad, descrita por primera vez en 1928. Se caracteriza por la asociación de nevos del tejido conjuntivo y osteopoiquilia. Es una patología de origen multifactorial. Causas genéticas han sido descritas. Dado que es una enfermedad benigna y que no se ha demostrado asociación con otras patologías, no requiere tratamiento y tiene buen pronóstico. Su importancia radica en el diagnóstico diferencial respecto de otras patologías complejas y severas. Se presenta el caso de una niña de 8 años de edad, que presenta desde los 2 años lesiones papulares en región glútea y zona lumbar izquierda, cuyo estudio histológico evidencia nevos de tejido conectivo. Presenta estudio radiológico que muestra la presencia de imágenes sugerentes de osteopoiquilia en fémur y cadera. La asociación de ambas entidades clínicas configura el diagnóstico de Síndrome de Buschke-Ollendorf. Se presenta el caso clínico y revisión de la literatura.
The Buschke-Ollendorf syndrome is a rare entity, first described in 1928 and is characterized by the association of connective tissue nevi and osteopoikilosis. It´s a disease of multifactorial origin. Genetic causes have been described. Since it is a benign disease and no association with other diseases have been proved, it doesn´t require treatment and has a good prognosis. It´s importance lies in the differential diagnosis with other complex and severe pathologies. We present the case of an 8-year-old girl with long lasting papular lesions in left buttock and lower back, which histological study showed connective tissue nevi. The radiological study showed suggestive images of osteopoikilosis in femur and hip. The association of both clinical entities suggest the diagnose of Buschke-Ollendorf syndrome. Clinical case and review of the literature is presented.
Subject(s)
Humans , Female , Child , Skin Diseases , Osteopoikilosis , Diagnosis, Differential , SyndromeABSTRACT
Nuestra piel tiene propiedades de elasticidad y firmeza, dada por las fibras del tejido conectivo ubicadas en la dermis. La elasticidad está dada principalmente por pequeñas fibraselásticas compuestas de elastina, mientras que la firmeza se explica por las redes de fibrillas de colágeno tipo I, III y V. La relevancia de estos componentes de la matriz extracelular, junto con otras fibras, como fibrilina y fibulina, se ha reflejado en el reconocimiento de diferentes enfermedades hereditarias causadas por mutaciones en estas proteínas. Muchas de éstas pueden tener características comunes, constituyendo un espectro de alteraciones, dependiendo de la proteína alterada, dando un pronóstico particular tanto en morbilidad y mortalidad. En esta revisión se desarrollarán las principales patologías de la dermis de importancia en dermatología.
Our skin is flexible and firm due to the fibers of the connective tissue in the dermis. Flexibility is mainly given by little elastic elastine fibers, meanwhile firmness is expressed by fibers networks made of collagen type I, III and V. The importance given to these components, including other fibers like fibrillin and fibulin in the extracellular matrix has been displayed in the recognition of different hereditary diseases caused by mutations in these proteins. Many of them have common characteristics, that build a wide spectrum of disorders depending on the altered protein, and give a particular prognostic in morbidity as well as in mortality. The main pathologies of the dermis with an importance in dermatology will be considered in this review.
Subject(s)
Humans , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/therapy , Diagnosis, Differential , Ehlers-Danlos Syndrome , Skin Diseases, Genetic/physiopathology , Skin Diseases, Genetic/genetics , Focal Dermal Hypoplasia , Lipoid Proteinosis of Urbach and Wiethe , Marfan Syndrome , Progeria , Prognosis , Pseudoxanthoma ElasticumABSTRACT
INTRODUCCIÓN: Diversos estudios epidemiológicos han demostrado una mayor frecuencia de patología dermatológica en pacientes con Síndrome de Down, especialmente la foliculitis, xerosis, dermatitis atópica y lengua fisurada. OBJETIVO: Determinar la frecuencia de dermatosis en una población pediátrica con síndrome de Down y compararla con un grupo sin esta condición. METODOLOGÍA: Estudio analítico, caso-control, que compara la frecuencia de patología dermatológica entre niños con Síndrome de Down y niños sin este síndrome. Para esto se comparó un total de 252 pacientes con síndrome de Down y 252 sujetos control (entre los 6 meses de edad hasta los 18 años), en el período comprendido entre enero del 2008 a diciembre del mismo año. Para definir si existió diferencia significativa entre estos 2 grupos en cuanto a las características mencionadas, se realizó un análisis bivariado utilizando el test de Fischer considerando significativo un p value de 0.05, para lo cual se utilizó el programa STATA 9.0...
INTRODUCTION: Several epidemiological studies have shown an increased frequency of dermatologic clinical pictures in patients with Down syndrome, especially folliculitis, xerosis, atopic dermatitis and fissured tongue. OBJECTIVE: Determine the frequency of dermatosis in a pediatric population with Down syndrome and compare it with a group without this condition. PATIENTS AND METHODS: Analytical Study, case-control, which compares the frequency of dermatologic pathology among children with Down Syndrome and children without the syndrome. We compare a total of 252 patients with Down syndrome and 252 control subjects (between 6 months to 18 years), in a period from January 2008 to December of the same year. To determine whether there was significant differences between these two groups in terms of the aforementioned characteristics, a bivariate analysis was carried out using the Fischer's test considering significant a p value of 0.05, STATA 9.0. program...
Subject(s)
Humans , Male , Adolescent , Skin Diseases/epidemiology , Down Syndrome/epidemiology , Case-Control Studies , Epidemiology, Descriptive , Prevalence , Age and Sex DistributionSubject(s)
Humans , Male , Adult , Skin Diseases/complications , Keloid/complications , Noonan Syndrome/complicationsSubject(s)
Humans , Male , Skin Neoplasms/diagnosis , Skin Neoplasms/pathology , Fibroma/diagnosis , Fibroma/pathology , Immunohistochemistry , Toes , Diagnosis, DifferentialABSTRACT
Nail alterations in children are a very frequent cause for consultation in primary care, pediatrics and dermatology. Its exact prevalence is unknown. Some of them are identical to those in adults, but there are some whose frequency is much higher in children, because they arise or develop exclusively in that period of life. Although some ungueal changes are considered isolated anomalies that have only cosmetic relevance, others might be diagnostic clues of associated diseases; they may be disabling and have a prognostic value for adult life. For that reason, good knowledge and proper management of them by specialists is fundamental. This report describes main alterations that may be observed in the ungueal apparatus during childhood, due to physiological alterations and congenital or acquired disease.
Las alteraciones ungueales en los niños representan un motivo de consulta frecuente en atención primaria, pediatría y dermatología. Su prevalencia exacta se desconoce. Algunas alteraciones son idénticas a las de los adultos, pero existen otras que se observan con mayor frecuencia en niños ya que se presentan o desarrollan exclusivamente en esta etapa de la vida. Aunque algunos cambios ungueales sean considerados como anomalías aisladas de importancia sólo cosmética, otros pueden ser claves diagnósticas para enfermedades asociadas, pueden ser discapacitantes y pueden tener importancia pronostica en la vida adulta. Por esto un adecuado reconocimiento y manejo por parte del especialista es fundamental. En este artículo se describen las principales alteraciones fisiológicas y enfermedades congénitas o adquiridas que se pueden observar en el aparato ungueal durante la infancia.
Subject(s)
Humans , Child , Nail Diseases/diagnosis , Nail Diseases/etiology , Nail Diseases/physiopathology , PediatricsSubject(s)
Humans , Female , Child , Aspergillosis/pathology , Aspergillosis/drug therapy , Dermatomycoses/etiology , Dermatomycoses/drug therapy , Antifungal Agents/therapeutic use , Diagnosis, Differential , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Pyrimidines/therapeutic use , Triazoles/therapeutic useABSTRACT
La aplasia cutis congénita (ACC) es un trastorno poco frecuente del desarrollo cutáneo, presentándose la mayoría como defectos aislados, pero pueden asociarse a otras malformaciones y síndromes genéticos. En relación a un caso de ACC extensa asociada a Síndrome de Adams-Oliver (SAO) se analizaron 10 casos de ACC con ubicación especial o asociadas a otras malformaciones diagnosticadas en forma clínica o por ecografía. Se confeccionó una tabla clasificando cada caso según Frieden, describiendo la ubicación de la aplasia y las asociaciones encontradas.
Aplasia cutis congenita (ACC) is a rare disorder of skin development, appearing mostly as isolated defects, but may be associated with other malformations and genetic syndromes. In relation to a case of extensive associated ACC Adams-Oliver Syndrome (AOS) were analyzed 10 cases of ACC with special location or associated with other malformations diagnosed clinically or by ultrasound. We made a table classifying each case as Frieden`s classification, describing the location of the aplasia and the associations found.
Subject(s)
Humans , Male , Female , Ectodermal Dysplasia/classification , Ectodermal Dysplasia/complicationsSubject(s)
Humans , Female , Child , Enchondromatosis/diagnosis , Hemangioma , Diagnosis, DifferentialABSTRACT
La calcinosis cutis es el término empleado para describir una serie de trastornos caracterizados por presentar depósitos de sales de calcio a nivel subcutáneo o de la dermis, ocurriendo tanto en hipercalcemia como en normocalcemia y en ocasiones se asocia a un trastorno subyacente. El pronóstico suele ser benigno y el tratamiento, tanto médico como quirúrgico, presenta resultados variables. Presentamos dos casos de pacientes adultos con diagnóstico de dermatomiositis que desarrollaron extensas zonas de calcificación subcutánea.
Calcinosis cutis is the term used to describe a group of disorders characterized by calcium deposits in the skin, occurring in hypercalcemia or normocalcemia and sometimes associated to an underlying disorder. It has a benign evolution and the treatment, both medical and surgical, present variable outcomes. We report the cases of two adult patients with diagnosis of dermatomyositis that developed extensive areas of calcium deposit.