ABSTRACT
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.
Subject(s)
Proteus Syndrome/mortality , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Kaplan-Meier Estimate , Male , Proteus Syndrome/epidemiology , Young AdultABSTRACT
CASE REPORT: Congenital disfiguring malformations are rare and usually have a multifactorial aetiology. Here we report on the ocular manifestations seen in a patient with Proteus syndrome. The retina showed retinal dysgenesia, retinal pigmentary abnormalities and optic nerve hypoplasia. Other abnormalities included strabismus and high myopia. DISCUSSION: Proteus syndrome is a complex hamartomatous disorder defined by local overgrowth, subcutaneous tumours and various bone, cutaneous and/or vascular anomalies. The incidence of ocular malformations in Proteus syndrome is unknown, however a meticulous cranio-facial examination and a systematic study of the eye is required to improve the medical care of these patients.
