neurocutaneous syndrome
Genetic disorders affecting both nervous system and skin development, often presenting with characteristic skin lesions and neurological features.
Full Definition
Neurocutaneous syndromes, also called phakomatoses, are a group of genetic disorders characterized by abnormal development of tissues derived from the embryonic ectoderm. These conditions typically present with distinctive skin lesions alongside neurological manifestations including seizures, developmental delays, and brain tumors. Common examples include neurofibromatosis, tuberous sclerosis complex, and Sturge-Weber syndrome. Early recognition of cutaneous features can prompt appropriate neurological evaluation and genetic counseling.
Usage
Usage note: Specify the particular syndrome when known; note the importance of skin examination in neurological patients.
In Context
- "The café-au-lait spots and seizures suggested an underlying neurocutaneous syndrome." — Pediatric neurology consultation
- "Genetic testing was ordered to confirm the suspected neurocutaneous syndrome." — Genetics referral letter