Affiliations: Department of Pediatric Neurology, Amirkola Pediatric
Hospital, Babol Medical University and Health Services, Babol, Iran
Note: [] Correspondence: Ali Ghabeli Juibary, M.D., Department of
Pediatrics, Babol Medical University, Amirkola Pediatric Hospital, Amirkola,
Babol, Iran. Tel.: +981113242151; E-mail: [email protected]
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.
