Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients - 17/12/22
Abstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : Tuberous sclerosis, MTOR signaling pathway, Epidermal nevi, Keratosis pilaris, Vascular malformation
Plan
Vol 149 - N° 4
P. 241-244 - décembre 2022 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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