背景：结节性硬化症（TSC）是一种涉及TSC1或TSC2基因的遗传性疾病。皮肤症状很明显,但是皮肤病学数据很少。本研究旨在描述具有基因型的TSC的皮肤体征。
方法：我们研究了蒙彼利埃大学医院38例TSC患者的皮肤病学特征。我们收集了基因型特征的细节。
结果：所有患者至少有一个皮肤征象。根据34/38例患者的诊断标准，仅皮肤病学检查就足以确定TSC的明确诊断。在皮肤体征与TSC1或TSC2突变的存在之间未发现关联。我们注意到在这种疾病中描述不佳的皮肤体征，即3例表皮痣，2例患者血管畸形，9例患者毛发角化病。
结论：虽然一些研究表明TSC2突变患者的神经系统表型更严重，根据突变基因，皮肤表达似乎没有差异。需要进一步的病例报告和分子遗传学研究来确定表皮痣之间的联系，血管畸形,毛发角化病和TSC。
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.
CONCLUSIONS: 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.
