Neurocutaneous melanosis in a pediatric patient with intraspinal hamartoma presentation

Abstract Background Neurocutaneous melanosis (NCM) is a rare congenital syndrome involving melanocytic tumors in the central nervous system (CNS) in association with giant melanocytic nevi. Case presentation This case details a 10-year-old male with NCM, presenting with an intraspinal hamartoma. Computed tomography revealed spinal cord compression. Pathology confirmed that the cutaneous lesions were nevi and that the hamartoma exhibited pigmentation, with positive staining for S100, HMB-45, and Fontana-Masson. Conclusion This case illustrates the embryological link between CNS and skin melanocytic proliferation.

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Publication Details

Journal
Surgical and Experimental Pathology
Published
2025-06-09
DOI
https://doi.org/10.1186/s42047-025-00186-4
Primary Topic
Cutaneous Melanoma Detection and Management
Type
article
Field-Weighted Citation Impact
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article

Neurocutaneous melanosis in a pediatric patient with intraspinal hamartoma presentation

Bruna Louise Silva, Paulo Henrique Condeixa de França, Karina Munhoz de Paula Alves Coelho, Hercílio Fronza et al.
1 links
Surgical and Experimental Pathology
Cutaneous Melanoma Detection and Management
article

Neurocutaneous melanosis in a pediatric patient with intraspinal hamartoma presentation

Bruna Louise Silva, Paulo Henrique Condeixa de França, Karina Munhoz de Paula Alves Coelho, Hercílio Fronza, Camila Barbosa, Simone Müller, Thiago Traesel
article en

Abstract

Abstract Background Neurocutaneous melanosis (NCM) is a rare congenital syndrome involving melanocytic tumors in the central nervous system (CNS) in association with giant melanocytic nevi. Case presentation This case details a 10-year-old male with NCM, presenting with an intraspinal hamartoma. Computed tomography revealed spinal cord compression. Pathology confirmed that the cutaneous lesions were nevi and that the hamartoma exhibited pigmentation, with positive staining for S100, HMB-45, and Fontana-Masson. Conclusion This case illustrates the embryological link between CNS and skin melanocytic proliferation.

Surgical and Experimental PathologyVol. 8(1)
Universidade do Estado de Santa Catarina (BR), Laboratório Nacional de Ciência e Tecnologia do Bioetanol (BR), Centro Técnico de Automação (Brazil) (BR), Universidade da Região de Joinville (BR), Hospital Municipal São José (BR), Hospital Infantil Albert Sabin (BR)
Good health and well-being
Openalex Percentile: Top 80%
Cutaneous Melanoma Detection and Management
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