neurocutaneous syndrome
A group of genetic disorders characterized by abnormalities affecting both the nervous system and skin, often with tumor predisposition.
Full Definition
Neurocutaneous syndromes, also known as phakomatoses, are a heterogeneous group of genetic disorders that affect tissues derived from the embryonic ectoderm, primarily the nervous system and skin. Common examples include neurofibromatosis, tuberous sclerosis complex, and Sturge-Weber syndrome. These conditions typically present with characteristic skin lesions and may involve brain tumors, seizures, intellectual disability, and other neurological complications. Many have autosomal dominant inheritance patterns with variable expressivity. Diagnosis often relies on clinical criteria combining cutaneous and neurological features.
Usage
Usage note: Use singular 'syndrome' even when referring to the group; specify individual syndrome when known.
In Context
- "The presence of café-au-lait spots and neurofibromas suggested a neurocutaneous syndrome requiring genetic evaluation." — Clinical examination
- "Imaging surveillance is recommended for patients with neurocutaneous syndromes due to increased tumor risk." — Management protocol