Sturge-Weber syndrome (SSW) is a congenital neurocutaneous disorder, which presents a port wine vascular malformation that covers the territory of the trigeminal nerve, neurological manifestations (ipsilateral leptomeningeal involvement, seizures and mental retardation) and ophthalmic signs (choroidal vascular malformation, glaucoma). There is no evidence to indicate that this is an inherited d...

by well-established clinical criteria.5 The abnormality is located on chromosome 17 and exhibits autosomal dominant inheritance. Most cases of Sturge-Weber syndrome are sporadic, but a familial distribution has been reported. As a result, the syndrome is believed to follow paradominant inheritance, such that the individual is heterozygotic for this inherited characteristic and phenotypically no...

BACKGROUND Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare neurocutaneous syndrome. Hemimegalencephaly (HME) and seizure episodes have been reported previously in a few cases with KTWS. CASE PRESENTATION We report here a 3 day-old girl with partial motor seizures, extensive port-wine staining and mild structural deformities in the feet, and a hemimegalencephaly. CONCLUSION Occurrence of p...

Parry-Romberg syndrome is a rare neurocutaneous disorder of unknown origin. It is characterized by progressive facial hemiatrophy and frequently overlaps with a condition known as linear scleroderma 'en coup de sabre'. Neurological involvement is frequently described in these patients, including migraine, facial pain and epilepsy, which represent the commonest neurological conditions, sometimes...

Epidermal nevus syndrome is a rare congenital disorder, characterized by epidermal nevi and multiple organ involvement. Multicystic kidney disease has been very rarely reported in this syndrome. Here is the report of a boy presented with multiple epidermal nevi, cardiac anomaly, seizure attack, hemi hypertrophy, and multicystic dysplastic kidney complicated with Wilms' tumor. According to this ...

Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome, which may involve multiple organ systems and shows highly variable clinical manifestations. Oral manifestations, including lesions on hard tissues, enamel hypoplasia and gingival hyperplasia have been previously described. We report a case of 25-year-old woman with this syndrome presenting multiple fibrous nodules on the bucca...

Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome with characteristic whirled hypopigmented skin lesions and neurological manifestations. Less consistently, there may be non-neurological manifestations that include ophthalmic, musculoskeletal, craniofacial, cardiac, genitourinary, and gastrointestinal involvements. We report a case of HI, with typical skin lesions in association with ...

neurocutaneous melanosis (ncm) is a rare, congenital non-hereditary syndrome, characterized by multiple pigmented nevi. we report the radiologic findings of a newborn who had extensive cutaneous melanotic nevus with satellite lesions in the brain. ultrasound showed multiple echogenic foci in the cerebral parenchyma. subsequent mri confirmed these lesions as characteristic deposits of melanin. t...

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).