Postzygotic HRAS Mutation Causing Both Keratinocytic Epidermal Nevus and Thymoma and Associated With Bone Dysplasia and Hypophosphatemia Due to Elevated FGF23
| Autor: | Emily Avitan-Hersh, Margarita Indelman, Dov Tiosano, Roni Shreter, Vardit Gepstein, Dov Hershkovitz, Reuven Bergman, Sameh Tatur, Riva Brick |
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| Rok vydání: | 2014 |
| Předmět: |
medicine.medical_specialty
Pathology Thymoma integumentary system business.industry Endocrinology Diabetes and Metabolism Biochemistry (medical) Clinical Biochemistry Epidermal nevus syndrome medicine.disease Biochemistry Endocrinology Dysplastic nevus syndrome Dysplasia Internal medicine medicine Nevus Cyst HRAS business Hypophosphatemia |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 99:E132-E136 |
| ISSN: | 1945-7197 0021-972X |
| Popis: | 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 associated with postzygotic HRAS mutation. Case Report: A 14-year-old boy was admitted due to recent limping. The physical examination revealed multiple right-sided linear epidermal nevi along Blaschko's lines. Magnetic resonance imaging showed cystic lesions in cervical bones and thymoma, and x-ray examination showed cystic lesions in the hands. Biochemical studies demonstrated severe hypophosphatemia, normocalcemia, high normal PTH, low 25-hydroxyvitamin D and low 1,25-dihydroxyvitamin D levels. The serum FGF23 C-terminal level was normal, but the intact FGF23 level was found to be elevated. Genetic eva... |
| Databáze: | OpenAIRE |
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