Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients - 06/05/22

Doi : 10.1016/j.annder.2022.02.007

L.-P. Secco ^a,^⁎ , C. Coubes ^b, P. Meyer ^c, L. Chenine ^d, A. Roubertie ^c, M.-C. Malinge ^e, D. Bessis ^a
^a Department of Dermatology, Montpellier University Hospital Center, 34295 Montpellier, France
^b Department of Genetics, Montpellier University Hospital Center, 34295 Montpellier, France
^c Department of Pediatric Neurology, Montpellier University Hospital Center, 34295 Montpellier, France
^d Department of Nephrology, Montpellier University Hospital Center, 34295 Montpellier, France
^e Department of Genetics, Angers University Hospital Center, 49100 Angers, France

^⁎Corresponding author at: Department of Dermatology, CHRU, 80, Avenue Augustin Fliche, 34090 Montpellier, France.Department of Dermatology, CHRU80, Avenue Augustin FlicheMontpellier34090France

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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.

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Keywords : Tuberous sclerosis, MTOR signaling pathway, Epidermal nevi, Keratosis pilaris, Vascular malformation