Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients.

BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder involving the TSC1 or TSC2 gene. Skin signs are prominent, but dermatological data are scarce. This study aims to describe the cutaneous signs of TSC with the genotype. METHODS: We studied the dermatological characteristics of 38 patients with TSC at the University Hospital of Montpellier. We collected details of genotypic features. RESULTS: All the patients presented at least one cutaneous sign. The dermatological examination alone was sufficient to establish a definite diagnosis of TSC based on the diagnostic criteria for 34/38 patients. No association was found between cutaneous signs and the presence of a TSC1 or TSC2 mutation. We noted skin signs that were poorly described in the disease, namely epidermal nevus in 3 patients, vascular malformation in 2 patients, and keratosis pilaris in 9 patients. DISCUSSION: While several studies demonstrate a more severe neurological phenotype in TSC2 mutated patients, skin expression does not appear to differ according to the mutated gene. Further case reports and molecular genetic studies are needed to determine the link between epidermal nevus, vascular malformations, keratosis pilaris and TSC.

[Residual renal function in dialysis patients]. / Rôle de la fonction rénale résiduelle dans la balance sodée du dialysé: est-ce un bénéfice ou un risque?

Residual renal function (RRF) contributes to the achievement of treatment adequacy in CKD-5 patients. It may facilitate patients' acceptance of renal replacement therapy (RRT) in minimizing dietary and fluid restriction. It has been confirmed to improve dialysis patient outcomes. Attempts to preserve RKF in incident CKD-5 patients are still subject to controversies. In this review we analyze the role of RRT in dialysis patient. What are the positive and the beneficial effects of maintaining RRF? What are the negative and the risks of maintaining a RRF? At what expense the maintenance of RRF is achieved? Preservation of RRF is undoubtedly an interesting means to enhance the efficacy of renal replacement therapy and reduce dietary fluid restriction. However, maintainance of RRF should not be considered as a goal of dialysis adequacy in dialysis patients but rather a means of optimizing RRT. Further, preservation of RRF should be considered as a permanent trade-off between patient comfort and chronic fluid volume overload with its deleterious effects.