The birth weight was 3280 grams and the length was 50 centimetres. The first skin changes were noticed at first week of life and the physician was interpreted as allergic skin reactions. These skin lesions were observed as several vesicules and bullae on erythematous area on the extremities. Later erythematous vesicular lesions developed into hyperkeratotic lesions in 8-10 weeks. Those hyperkeratotic lesions progressed into reticular pigmentation that characterised like marble cake appearance and it is not exceeding through the midline at this last admission.
Convulsion begins at three months of age.
At that time, computerised tomography demonstrated that cortical atrophy and decreased white material density around periventricular regions and electroencephalography showed generalised epileptic activities. The patient was unresponsive to environmental stimuli. The nails were normal and other physical examinations findings were unremarkable. There were no remarkable findings on either urine test or blood chemistry. Renal ultrasonography showed the left sided hydronephrosis.