The skin, teeth, hair, nails, and brain are derived embryologically from ectoderm. Abnormalities of these surface structures may indicate abnormal brain development NEUROFIBROMATOSIS . TUBEROUS SCLEROSIS . STURGE-WEBER SYNDROME
NF are a autosomal dominant disorder.NF1 is diagnosed when any 2 of the following 7 features are present: 1-six or more cafй-lait macules over 5mm in greatest diameter in prepubertal individuals.2-Axillary or inguinal freckling .3-two or more iris Lisch nodules.4-Two or more neurofibromas or 1 plexiform neurofibroma.5-distinctive osseous lesion such as sphenoid dysplasia.6-optic glioma.7-first –degree relative with NFM1.
Tuberous sclerosis, an autosomal dominant disorder, the hallmark of TSC is the involvement of CNS. *Retinal lesions consist of 2 types: hamartoma and white depigmented patches. * The characteristic brain lesion is cortical tuber. *Skin lesions : more than 90% of cases show the typical hypomelanotic macules , Facial angiofibroma develop between 4 and 6 yrs of age ,they appear as tiny red nodule over the nose and cheeks. Shagreen pach a raised lesion with an orange-peel consistency located in the lumbosacral region. Periungual fibroma. *Other organs involvement: cardiac rhabdomyomas , angiomyolipoma of kidneys.
FACIAL ANGIOFIBROMA
SWS is a sporadic, vascular disorder and consist of a constellation of symptoms and signs including a facial capillary malformation (port-wine stain) , abnormal blood vessels of the brain (leptomeningeal angioma), and abnormal blood vessles of the eye leading to gluacoma. Clinical manifestations: The facial pot-wine stain is present at birth , tends to be unilateral, and always involve the upper face and eyelid, in distribution consistent with the opthalmic division of the trigeminal nerve. Buphthalmos and gluacoma of the ipsilateral eye are common.*The incidence of epilepsy is 75-90% and the seizure develop in the most patients in the 1st yr. of life. They typically focal tonic-clonic and contralateral to the side of the facial capillary malformation. The seizure may become refractory to anticonvulsants and associated with a slowly progressive hemiparesis in many cases. *Although neurodevelopment appears to be normal in the 1st yr of life , mental retardation or sever learning disabilities are present in at least 50% in later childhood.
Management : It is aimed at controlling seizure with anticonvulsants, if the seizure are refractory to therapy, especially in infancy and the 1st 1-2 yr of life, and arise primarily from 1 hemisphere, most centers advise a hemispherectomy. Pulsed dye laser therapy often provides excellent clearing of the port-wine stain.