Neurocutaneous syndromes are a diverse group of neurologic disorders with concurrent skin manifestations. Most neurocutaneous syndromes have a genetic basis and are believed to arise from a defect in the differentiation of the primitive ectoderm. In this regard, the skin can be a window into the central nervous system and can aid in the diagnosis of neurologic disease in children. The cutaneous...

Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of this autosomal dominant condition. A fourth family with Watson syndrome has since been reported. We have had the opportunity to review members of three of these four families. The clinical phenoty...

Neurofibromatosis 1, an autosomal dominant neurocutaneous disorder characterized by café-au-lait macules, Lisch nodules, neurofibromas, and learning disabilities, affects approximately 1 in 3000 people. Unlike other neurocutaneous disorders such as tuberous sclerosis, epilepsy is not a common clinical feature, occurring in 3.8–7% of NF1 patients. Rarely, case reports have described patients wit...

Introduction: Parry–Romberg syndrome (PRS) is a rare neurocutaneous condition that can affect the skin, subcutaneous fat, muscle, and bone on one side of face. PRS presents with progressive but self-limiting facial haemiatrophy, its severity ranges from barely noticeable asymmetry to severe disfigurement. The authors describe 35-year-old male right haemiatrophy. patient presented in stable at i...

Bank China Rural Health Study. The findings, interpretations and conclusions expressed in this paper are entirely those of the authors, and do not necessarily represent the views of the World Bank, its Executive Directors, or the countries they represent.

Case presentation: A 2-year-old boy with Dandy-Walker syndrome diagnosed by obstetric ultrasound, presented diffuse and large nevi at birth. He was submitted to endoscopic third ventriculostomy 15 days old due obstructive hydrocephalus. Spinal fluid then sent for analysis but showed no melanocytes. MRI of the brain additional findings mutation could not be performed. After 1 month he needed a v...