关键词: 结节性硬化症, 化脓性汗腺炎, TSC2基因, NCSTN基因, mTORC1通路

Abstract: 【Abstract】 Objective To report a case of tuberous sclerosis complex complicated by acne inversa, and to analyze gene variations. Methods Peripheral blood samples were collected from the patient with tuberous sclerosis complex complicated by acne inversa, her younger brother, and her parents. Exome sequencing was performed to detect gene variations in the patient, and Sanger sequencing to confirm the pathogenic gene mutations. Results The patient clinically presented with facial angiofibromas, ash-leaf macules, and shagreen patches, as well as multiple cutaneous comedones, nodules, abscesses, and scars. The paitent also had epilepsy and multiple renal cysts. The initial diagnosis was tuberous sclerosis complex complicated by acne inversa. Genetic testing for the patient revealed a heterozygous frameshift mutation c.3506dupC （p.A1169fs） in the TSC2 gene and a heterozygous nonsense mutation c.123T>G （p.Y41X） in the NCSTN gene. The heterozygous nonsense mutation c.123T>G （p.Y41X） was also identified in the patient′s younger brother and mother, while no above mutations were identified in the patient′s father or 100 unrelated healthy controls. The above mutations were also not retrieved in the ClinVar, ExAC and 1000g databases. Conclusion The mutation c.3506dupC in the TSC2 gene and mutation c.123T>G in the NCSTN gene may be responsible for the unique clinical manifestations in the patient, and potentially exacerbate the phenotype of acne inversa through the mTORC1 pathway.

Key words: Tuberous sclerosis, Hidradenitis suppurativa, TSC2 gene, NCSTN gene, mTORC1 pathway