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Article

Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.

The Journal of clinical endocrinology and metabolism - 1 Jan 2014

Avitan-Hersh Emily, Tatur Sameh, Indelman Margarita, Gepstein Vardit, Shreter Roni, Hershkovitz Dov, Brick Riva, Bergman Reuven, Tiosano Dov

Abstract excerpt

INTRODUCTION: Epidermal nevus syndrome is a rare group of disorders characterized by the combination of congenital epidermal nevi and extracutaneous features, including skeletal, neurological, ocular, and other systemic findings. We report a case of keratinocytic epidermal nevus syndrome that includes a thymoma, bone dysplasia, and hypophosphatemia with elevated fibroblast growth factor 23 (FGF23) levels...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24243633
DOI: 10.1210/jc.2013-2813

Genes

FGF23
HRAS
DMP1
ENPP1
PHEX
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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