melanosis: clinical features of large congenital melanocytic nevi in patients with manifest central nervous system melanosis.
syndromes or phakomatoses are congenital abnormalities, involving the skin and CNS.
We believe that combined neuroimaging findings, such as pial angiomatosis and corticopial calcifications with atrophy of underlying brain parenchyma, in association with ipsilateral parietooccipital subcutaneous lipoma and seizures, without mental retardation and developmental delay, have not been reported yet, indicating a possibility of a rare manifestation of neurocutaneous
Further workup like MRI was done for associated risk factors (eg perinatal insult) or etiological factors (neurocutaneous
syndrome, inborn errors of metabolism).
Neurofibromatosis type 1 is autosomal dominant neurocutaneous
disorder characterized by benign neurofibromas but malignant tumours also occur.
Neurofibromatosis-1 (NF-1) is a progressive multisystem neurocutaneous
genetic disorder with an autosomal dominant inheritance .
Tuberous sclerosis (TS) is a rare disease described by Von Recklinghausen of neurocutaneous
autosomal dominant origin, which is characterized by the development of benign tumors.
O'Leary, "Spinal AVM, epidermal nevus, and rhabdomyosarcoma: a rare neurocutaneous
syndrome?," Neurology, vol.
Neurofibromatosis type I (NF1) is a neurocutaneous
disorder that involves autosomal dominant transmission.
Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous
syndrome with a prevalence of 0.7/100,000 live birth and ophthalmologic, neurologic, cutaneous, and dental manifestations [1, 2].
KTS is a neurocutaneous
syndrome with vascular involvement .
Coverage encompasses visual fields, supranuclear and internuclear gaze pathways, nystagmus and related ocular oscillations, syndromes of the cranial nerves, cavernous sinus syndrome, the pupil, the swollen optic disc, optic atrophy, myasthenia and ocular myopathies, eyelid disorders, headache, carotid artery disease and the eye, nonorganic visual disorders, disorders of higher visual function, neurocutaneous
disorders, and neuroimaging.