Clinical manifestations and genetic variation analysis of one case of tuberous sclerosis complex complicated by acne inversa
- VernacularTitle:结节性硬化症并发反常性痤疮1例的临床表现及基因变异分析
- Author:
Shuai ZHANG
1
;
Yi SHAO
1
;
Shoumin ZHANG
1
;
Zhenlu LI
1
;
Jianguo LI
1
;
Jianbo WANG
1
Author Information
- Publication Type:Journal Article
- Keywords: Tuberous sclerosis; Hidradenitis suppurativa; TSC2 gene; NCSTN gene; mTORC1 pathway
- From: Chinese Journal of Dermatology 2024;57(12):1130-1133
- CountryChina
- Language:Chinese
- 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 a female 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 neither of the 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 1000 Genomes 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 the mutation c.3506dupC may potentially exacerbate the phenotype of acne inversa through the mTORC1 pathway.
