Neurocutaneous melanosis (NCM) is a rare congenital nonfamilial nonheritable neurocutaneous syndrome
with equal gender preponderance.
Further workup like MRI was done for associated risk factors (eg perinatal insult) or etiological factors (neurocutaneous syndrome
, inborn errors of metabolism).
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 .
Sturge-Weber syndrome (SWS), or encephalotrigeminal angiomatosis, is a rare, congenital neurocutaneous syndrome
characterized by unilateral facial cutaneous vascular malformation (nevus flammeus or port-wine stain [PWS]) in association with ipsilateral leptomeningeal angiomatosis.
Tuberous sclerosis complex (TSC), also called Bourneville's (Bourneville-Pringle) disease, is a rare autosomal dominant neurocutaneous syndrome
. It is characterized by cellular hyperplasia, tissue dysplasia and multiple organ hamartomas such as brain, skin and kidney due to which most patients present with epilepsy (96%) and skin lesions (> 90%).1 Hence TSC is also remembered with the acronym EPILOA (epilepsy, low intelligence, adenoma sebaceum).
The most common symptoms of this neurocutaneous syndrome
include cataracts, scoliosis, fused vertebrae, spina bifida, and delayed mental development [5, 7, 8].
The Sturge-Weber syndrome is a rare neurocutaneous syndrome
characterized by facial capillary and capillary-venous malformations in trigeminal nerve distribution, leptomeningeal venous angiomatosis, seizures, dementia and hemiplegia.
Neurofibromatosis type I is the most common type of phakomatosis or neurocutaneous syndrome
, occurring in one out of every 2000 live births with no predilection for gender or race [49, 50].
The persistent salmon patch on the face of an adult is benign and not associated with any neurocutaneous syndrome
or underlying vascular abnormality.
Frieden, who placed a leading role in defining PHACE syndrome, estimated it to be a more common neurocutaneous syndrome
than Sturge-Weber: "Not super-rare, but not common," she said.