Cutaneous lesions and visceral involvement of tuberous sclerosis: First report in North of Iran

Abstract

Tuberous sclerosis (TS) is an autosomal dominant disorder with a significant range of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart and lung is the main cause of death in patients with TS. The aim of this study is to summarize the characteristic cutaneous features and common extracutaneous involvement of TS, which are helpful to the early detection of visceral involvement. The analyzed clinical data from 10 patients with TS included those from detailed history, physical and dermatological examination, cranial computed tomography and magnetic resonance imaging, abdominal ultrasonography, chest roentgenography, and ophthalmologic examination. The skin, brain and electroencephalography were involved frequently in TS patients. Hypomelanotic macules were the most common and earliest cutaneous lesions. There were two facial angiofibromas and no Shagreen's patch in our patients. Cranial computed tomography showed a high positive rate including periventricular and Monro foramen calcification in TS patients. Hypsarrhythmia was the most common abnormality on electroencephalography background. Cutaneous features of TS are helpful in the early diagnosis of the disease. Hypomelanotic macules are especially important for patients with epilepsy or babies whose number of hypomelanotic macules is more than three. Cranial computed tomography is of great value in the diagnosis of TS. The involvement of visceral organs such as the brain and kidney should be considered in TS patients.

Keywords

Tuberous sclerosis - skin manifestations - electroencephalography