Neurofibromatosis type I (NF-1), the most common neurocutaneous disorder, can be an inherent or spontaneous mutation of the NF-1 gene on chromosome 17q11.2 and encodes neurofibromin proteins. There have only been a few cases reported of NF-1 associated with nephrotic syndrome and the relation rests unclear. Herein, we present a case of NF-1 combined with minimal change disease (MCD).

We report unilateral megalencephaly in a 14-year-old girl with linear sebaceous nevus syndrome. A review of the radiologic findings in this case and in previously reported cases suggests that the seizures and developmental delay in this neurocutaneous syndrome are related to the migration anomaly of unilateral megalencephaly.

Sjögren-Larsson syndrome is an inherited neurocutaneous disorder characterized by ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Patients have deficient activity of fatty aldehyde dehydrogenase due to mutations in the ALDH3A2 gene, which results in altered lipid composition of their tissues. In this article, the author discusses new information about the biochemical p...

Sturge Weber syndrome is a rare sporadic neurocutaneous syndrome. It has extra -oral manifestations mostly in form of unilateral port wine stain on face that are ipsilateral to intra-cranial lesions (mostly lepto-meningeal angioma), seizures, glaucoma and intra-orally by hemangioma gingiva. We case report child with facial nevus opposite lesion, intra-oral gum hypertrophy. Other than contralate...

A previously healthy 10-year-old girl presented with a 3-week history of headaches, vomiting, and diplopia. Physical examination revealed multiple pigmented cutaneous nevi, bilateral sixth nerve palsies, and papilledema. No pigmented intraocular lesions were found. Unenhanced CT and MR scans were unremarkable. An opening pressure of 38 em H20 was found at lumbar puncture with no abnormalities o...