pyrimidinones and Melanosis

Neurocutaneous melanosis (NCM) is a rare disorder characterised by giant or multiple melanocytic nevi and meningeal melanosis or melanoma. Onset of neurological symptoms is typically in children younger than 2 years and can be rapidly fatal. We present the case of a 13-year-old adopted girl presenting with numerous congenital melanocytic nevi and a seizure. She had no significant previous neurological history. Electroencephalogram showed epileptiform discharges over the right frontal region. MRI of the brain showed T1 hyperintensity in the bilateral amygdala and anterior temporal lobes with corresponding hyperintensity on T2 and fluid attenuated inversion recovery. There was no hydrocephalus. Along with the history of nevi, these imaging findings were concerning for NCM. The patient is being managed with levetiracetam and trametinib and shows no further neurological decline at 1-year follow-up, providing prognostic hope in this case of NCM.

Topics: Adolescent; Amygdala; Anticonvulsants; Electroencephalography; Female; Humans; Levetiracetam; Magnetic Resonance Imaging; Male; Melanosis; Mitogen-Activated Protein Kinase Kinases; Neurocutaneous Syndromes; Nevus, Pigmented; Protein Kinase Inhibitors; Pyridones; Pyrimidinones; Seizures; Temporal Lobe

Topics: Cell Transformation, Neoplastic; Child; Chromogranins; Chromosome Deletion; Chromosomes, Human, Pair 10; Dexamethasone; DNA Copy Number Variations; GTP-Binding Protein alpha Subunits, Gs; Humans; Laminectomy; Magnetic Resonance Imaging; Male; Melanosis; Neurocutaneous Syndromes; Pyridones; Pyrimidinones

We saw a 59-year-old patient who was treated with dabrafenib and trametinib because of metastatic melanoma. She had an asymptomatic, black-blue macula in the excision scar. Histopathology showed tumoral melanosis. This is an histological term for dermal aggregates of melanophages, associated with regression of melanoma.

Topics: Antineoplastic Combined Chemotherapy Protocols; Cicatrix; Female; Humans; Imidazoles; Melanoma; Melanosis; Middle Aged; Oximes; Pyridones; Pyrimidinones; Skin Diseases; Skin Neoplasms

Topics: Aged, 80 and over; Antineoplastic Combined Chemotherapy Protocols; Combined Modality Therapy; Dermoscopy; Disease Progression; Drug Substitution; Epidermis; Fibrosis; Humans; Imidazoles; Indoles; Male; Melanoma; Melanoma, Cutaneous Malignant; Melanosis; Mutation, Missense; Neoplasm Proteins; Oximes; Protein Kinase Inhibitors; Proto-Oncogene Proteins B-raf; Pyridones; Pyrimidinones; Remission Induction; Skin Neoplasms; Substrate Specificity; Sulfonamides; Vemurafenib