Tuberous sclerosis complex diagnosed from oral lesions

CONTEXT: Tuberous sclerosis complex (TSC) is a genetic disease in the group known as neurocutaneous syndromes, with dominant autosomal inheritance. It is characterized by skin and adnexal lesions and central and peripheral nervous system tumors, with neurological and psychiatric findings. It may affect the heart, kidneys, eyes, face, bones, lungs, stomach and dentition. CASE REPORT: We present the case of a 66-year-old man with dermatological signs that included hypopigmented maculae, confetti-like lesions, shagreen plaque, angiofibromas on nasolabial folds, neck and back, nail dystrophy and periungual fibromas on fingers and toes. An electroencephalogram produced normal results, but magnetic resonance imaging showed a nodular image measuring 1.2 x 1.0 cm close to the Monro foramen, which was similar to cerebral parenchyma and compatible with a subependymal giant-cell astrocytoma. A conservative approach was taken, through control imaging examinations on the lesion for seven years, with absence of any expansive process or neurological symptoms. Abdominal ultrasonography revealed a solid, heterogenic and echogenic mass with a calcified focus, measuring 4.6 x 3.4 cm, in the rightkidney, compatible with angiomyolipoma. The patient was treated by means of complete nephrectomy because of malignant areas seen on histopathological examination and died one month after the procedure. This case report illustrates the importance of oral clinical findings such as dental enamel pits and angiofibromas in making an early diagnosis of TSC, with subsequent screening examinations, treatment and genetic counseling.

背景：结节性硬化症（Tuberous sclerosis complex, TSC）是一类归属于神经皮肤综合征的遗传性疾病，呈常染色体显性遗传。该病以皮肤及附属器病变、中枢及周围神经系统肿瘤伴神经精神表现为特征，可累及心脏、肾脏、眼部、面部、骨骼、肺部、胃部及牙列。病例报告：本文报告1例66岁男性患者，其皮肤体征包括色素减退斑、纸屑样皮损、鲨革样斑、鼻唇沟、颈部及背部血管纤维瘤，指（趾）甲营养不良及甲周纤维瘤。脑电图（electroencephalogram, EEG）检查结果正常，但磁共振成像（magnetic resonance imaging, MRI）显示Monro孔（室间孔）附近存在1.2×1.0cm的结节状影像，信号与脑实质相似，符合室管膜下巨细胞星形细胞瘤（subependymal giant-cell astrocytoma）表现。临床采取保守随访策略，对该病灶进行了7年的影像学追踪，未观察到任何占位性病变进展或神经系统症状。腹部超声检查发现右肾存在一4.6×3.4cm的实性、不均质高回声肿块伴钙化灶，符合血管平滑肌脂肪瘤（angiomyolipoma）表现。因组织病理学检查（histopathological examination）提示存在恶性区域，患者接受了根治性肾切除术（complete nephrectomy），术后1个月死亡。本病例报告阐明了口腔临床体征（如牙釉质凹坑及血管纤维瘤）对TSC早期诊断的重要价值，后续可通过筛查检查、治疗及遗传咨询（genetic counseling）开展针对性干预。