# Encephalocraniocutaneous lipomatosis: a rare and sporadic phakomatosis

**Authors:** Ana Clara Maia Palhano, Julia Maria de Oliveira Neumayer, Milene Tiburcio Narenti Ferradoza, Luciana Paula Samorano, Maria Cecilia Rivitti-Machado, Zilda Najjar Prado de Oliveira

PMC · DOI: 10.1016/j.abd.2025.501276 · Anais Brasileiros de Dermatologia · 2026-01-19

## Full-text entities

- **Genes:** NRAS (NRAS proto-oncogene, GTPase) [NCBI Gene 4893] {aka ALPS4, CMNS, N-ras, NCMS, NRAS1, NS6}, KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845] {aka 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A}, FGFR1 (fibroblast growth factor receptor 1) [NCBI Gene 2260] {aka BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1}, NF1 (neurofibromin 1) [NCBI Gene 4763] {aka NFNS, VRNF, WSS}
- **Diseases:** phakomatoses (MESH:D020752), congenital ocular choristoma (MESH:D002828), epibulbar lipodermoid (MESH:C563969), Cafe-au-lait spots (MESH:D019080), Haberland Syndrome (MESH:D013577), Neurofibromatosis type 1 (MESH:D009456), cutaneous, ophthalmological, and neurological anomalies (MESH:D009421), alopecia (MESH:D000505), craniosynostosis (MESH:D003398), spinal lipomas (MESH:C580329), aplasia cutis (MESH:D004476), clinodactyly (MESH:C537090), Neurofibromatosis-Noonan syndrome (MESH:C537393), skin lesions (MESH:D012871), developmental dysplasias (MESH:D000082602), ECCL (MESH:C535736), NP (MESH:D009506), ocular anomalies (MESH:D005124), Delleman Syndrome (MESH:C538088), Proteus (MESH:D016715), lipomatous lesions (MESH:D008080), vertebral deformities (MESH:C535781), hydrocephalus (MESH:D006849), Legius syndrome (MESH:C548032), lipoma (MESH:D008067), atrophy (MESH:D001284), genetic (MESH:D030342), ectodermal dysgenesis (MESH:C537048), mesenchymal tumors (MESH:C535700), ORCID IDs (MESH:C535742), intracranial hypertension (MESH:D019586), cardiofaciocutaneous syndrome (MESH:C535579), tumors (MESH:D009369), Epidermal Nevus (MESH:C580062), short stature (MESH:D006130), Schimmelpenning Syndrome (MESH:D054000), seizures (MESH:D012640)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

11 references — full list in the complete paper: https://tomesphere.com/paper/PMC12856607/full.md

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Source: https://tomesphere.com/paper/PMC12856607