Symptoma

Uveal Melanoma

Choroidal Melanoma

  • Goiter

    We report the case of metastatic uveal melanoma in a woman with multinodular goiter and primary hyperparathyroidism. [ncbi.nlm.nih.gov]

  • Enophthalmos

    Post-enucleation anophthalmic ptosis occurred after 8/49 (16%) of primary cases (vs. 13/30, 43%, p 0.02) and prosthetic enophthalmos after none (0%) of primary cases (vs. 5/30, 17%, p 0.006). [ncbi.nlm.nih.gov]

  • Macrocephaly

    GNAQ Specificity 100 % Genes 20 % Macrocephaly. By MGZ Medical Genetics Center in Germany. PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP, MED12, (...) [mendelian.co]

  • Cranial Neuropathy

    Two months later, she developed cranial neuropathies and was found to have a large skull base lesion that required surgical debulking for pain palliation. Histopathology confirmed the lesion to be metastatic melanoma. [ncbi.nlm.nih.gov]

  • Karyotype Abnormal

    Cytogenetic investigation of uveal melanoma (UM) has revealed that monosomy 3 is the most frequent karyotypic abnormality, present in approximately 60% of cases. [ncbi.nlm.nih.gov]

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