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Published on: May 17, 2024
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Neurocutaneous melanocytosis (melanosis)
Martino Ruggieri1, Agata Polizzi2, Stefano Catanzaro3,4
1Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy. m.ruggieri@unict.it.
Summary
Neurocutaneous melanosis (NCM) is a rare congenital syndrome linking skin nevi with brain melanocytosis. Mutations in NRAS are key, with targeted therapies showing promise for NCM treatment.
Area of Science:
- Genetics
- Neurology
- Dermatology
Background:
- Neurocutaneous melanosis (NCM) is a rare congenital disorder.
- It is characterized by congenital melanocytic nevi (CMN) on the skin and melanocytosis in the central nervous system.
- Approximately 12% of individuals with large CMN develop NCM.
Purpose of the Study:
- To define NCM, its clinical spectrum, and underlying pathogenesis.
- To outline diagnostic and surveillance strategies.
- To review current and emerging treatment options.
Main Methods:
- Review of existing literature and case reports.
- Genetic analysis identifying NRAS mutations.
- Description of diagnostic imaging (MRI, MRA, PET) and testing (EEG, IQ).
Main Results:
- NCM presents with diverse skin lesions and neurological symptoms like seizures and intracranial hypertension.
- NRAS mutations disrupting RAS/ERK/mTOR/PI3K/akt pathways are implicated.
- Associated brain malformations include Dandy-Walker complex and cortical dysplasia.
Conclusions:
- NCM is a complex syndrome with significant neurological implications.
- Early diagnosis and monitoring are crucial.
- Targeted therapies, including BRAF/MEK and PI3K/mTOR inhibitors, offer new treatment avenues.
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