Quantifying survival in patients with Proteus syndrome.

PurposeProteus syndrome is a rare mosaic overgrowth disorder that is associated with severe complications. While anecdotal data have suggested that the life span of affected patients is reduced, this has not been measured. Mortality data on rare diseases is critical for assessing treatments and other interventions.MethodsTo address this we used the clinical research records of 64 patients in a longitudinal natural history cohort at the National Institutes of Health to ascertain the data in an organized manner and estimate survival using a Kaplan-Meier approach.ResultsThe median age of diagnosis was 19 months. Based on this analysis, there was 25% probability of death by 22 years of age. Ten of the 11 patients who died were younger than 22 years of age, and there was only a single death after this age.ConclusionThese data quantify the risk of premature death in Proteus syndrome, which can be used to support interventions and trials. Although the risk of death is substantial, the fact that only one patient died after 22 years of age supports anecdotal evidence that the disease process moderates after the end of adolescence. Interventions to reduce mortality should be targeted to the pediatric age range.

Thoracolumbar scoliosis in a patient with Proteus syndrome: a case report and literature review.

The Proteus syndrome (PS) is a complex and rare congenital hamartomatous condition with a wide range of malformations. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of PS and explores the possible mechanisms between the 2 diseases. The patient is a 17-year-old Chinese female with scoliosis and hemihypertrophy of the right upper and lower extremity as well as exostosis of the right lower leg joint including the hip, knee, ankle, and toes. These manifestations were suggestive of PS. She underwent a posterior correction at thoracic 2-lumbar 4 (T5-L4) levels, using the Moss-SI spinal system. At 3-month follow-ups, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. The severity of scoliosis in PS is progressively aggravated and the correction of the extensive spinal deformities is generally difficult. Therefore, early diagnosis is required for adequate interdisciplinary treatment.

El síndrome de Proteus: del mundo griego a la medicina / No disponible

El mundo griego se encuentra presente en la sociedad actualen muchas facetas, música, arte, deporte, filosofía...llegando incluso a la medicina y las ciencias de la salud.Y es que la cultura griega tiene un papel privilegiadodentro de las ciencias médicas, siendo el griego el idiomade la medicina científica durante toda la antigüedadclásica. Además, en la actualidad, una gran mayoría detérminos médicos provienen del griego junto con el latín,recurriendo aún en la actualidad al griego y al latín paracrear neologismos. La influencia de la cultura griega estal que incluso algunas enfermedades son conocidas conel nombre de algún héroe, leyenda o mito griego, comoes el caso que ocupa la presente revisión, el Síndrome deProteus. El Síndrome de Proteus hace referencia al diosde la mitología griega “Proteo, el polimorfo”, debido a sucapacidad para cambiar de forma a su voluntad con elobjetivo de no ser cazado.Este síndrome consiste en una alteración del crecimiento,donde existe un crecimiento excesivo del tejido epidérmico,el adiposo u óseo. Se trata de una tumoración formadapor una mezcla anómala de elementos constitutivos deun tejido, implicando a sistemas diferentes y con unagran variabilidad clínica. Tanto la descripción como elnombre del síndrome, fue establecido en el último cuartode siglo XX. Es un síndrome poco frecuente, afectandoa menos de 200 personas en el mundo. Afecta por igualal sexo femenino que masculino, con una prevalencia demenos de 1 por cada millón de nacimientos.Así, se puede apreciar que incluso en tiempos másactuales, a la hora de dar nombre a nuevas patologías oafecciones emergentes, se observa una tendencia de losprofesionales sanitarios a utilizar conceptos del mundogriego de forma rutinaria, hecho que es evidenciado,por ejemplo, en el síndrome de Proteus(AU)

The Greek world is present in today’s society in manyfacets, music, art, sports, philosophy ... Even medicineand health sciences. And is that the Greek culture has aprivileged role in the medical sciences, where the Greeklanguage of scientific medicine throughout classicalantiquity. Moreover, at present, a large majority ofmedical terms come from the Greek along with Latin,drawing even at present the Greek and Latin to createneologisms. The influence of Greek culture is such thateven some diseases are known as a hero, Greek myth orlegend, as was the case before this revision, the ProteusSyndrome. The Proteus Syndrome refers to the god ofGreek mythology “Proteus, polymorphous,” becauseof its ability to change shape at will with the aim ofnot being hunted.This syndrome is a disturbance of growth, where thereis an excessive growth of epidermal tissue, fat or bone.It is a tumor composed of a mixture of anomalouselements of the fabric, involving different systems andwith a high degree of variability clinic. Both the descriptionand the name of the syndrome, was establishedin the last quarter-century. It is a rare syndrome, affectingfewer than 200 people in the world. Subsequentalike females to males, with a prevalence rate of lessthan 1 per million births.Thus, we can see that even in current times, whennaming a new emerging diseases or conditions, thereis a tendency for healthcare professionals to use Greekconcepts of the world routinely, a fact that is evidenced,for example, Proteus syndrome(AU)

Neurocutaneous syndromes and epilepsy-issues in diagnosis and management.

Epilepsy may be seen as a feature of many of the neurocutaneous syndromes. The challenge lies within the diagnosis of the specific disorder and ultimately control of the epilepsy. Tuberous sclerosis is the most common of the disorders with a frequency of 4.9/100,000. An autosomal-dominant condition, diagnostic features may be unclear under 2 years of age. Population studies suggest a prevalence of epilepsy of 78%, the majority presenting under the age of 12 months, with a high association between the occurrence of seizures and the presence of learning disability. Although an apparent multifocal disease, surgery may have a role to play where seizures are demonstrated to probably arise from a single tuber. Other less common neurocutaneous syndromes also have a high prevalence of epilepsy in association with cerebral malformations; unilateral or lobar malformations should be referred early for surgical consideration. Neurofibromatosis is the second most common of the disorders but the prevalence of epilepsy in this population is relatively low; in addition, a greater proportion may be easier to treat with medication.

The Proteus syndrome.

A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous masses, epidermal nevi and bony abnormalities. The condition is extremely rare. Though the child had severe cosmetic disability, motor intellectual and language development was found to be normal.