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32 Possible Causes for Hyperpigmented Macules of Buccal Mucosa, Sensorineural Hearing Loss Associated with ELSTs, Sporadic Cerebellar Hemangioblastoma

  • Von Hippel-Lindau Disease

    Molecular genetic analysis of the von Hippel-Lindau disease tumour suppressor gene in familial and sporadic cerebellar hemangioblastomas.[doi.org] ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] Pathologic examination of the tumor revealed a hemangioblastoma. Hemangioblastomas may occur sporadically or in association with von Hippel-Lindau disease.[ncbi.nlm.nih.gov]

    Missing: Hyperpigmented Macules of Buccal Mucosa
  • Peutz-Jeghers Syndrome

    hemangioblastomas and pheochromocytomas.[themedicalbiochemistrypage.org] […] the buccal mucosa, eyes, nostrils, perianal area, and fingers.[ltd.aruplab.com] Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa[ncbi.nlm.nih.gov]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Cerebellar Hemangioblastoma

    The patient received a diagnosis of sporadic cerebellar hemangioblastoma. Treatment.[consultant360.com] In 3 reports including 50 adult cases of sporadic cerebellar hemangioblastoma cited by the authors, about 50% of patients screened had somatic VHL gene mutations.[pediatricneurologybriefs.com] cerebellar hemangioblastoma in a postpartum woman; very few cases of sporadic hemangioblastoma in pregnancy or in postpartum patients have been reported in the literature[consultant360.com]

    Missing: Hyperpigmented Macules of Buccal Mucosa Sensorineural Hearing Loss Associated with ELSTs
  • Hemangioblastoma

    The patient received a diagnosis of sporadic cerebellar hemangioblastoma. Treatment.[consultant360.com] View Article : Google Scholar : PubMed/NCBI 10 Liao CC and Huang YH: Clinical features and surgical outcomes of sporadic cerebellar hemangioblastomas.[spandidos-publications.com] Clinical features and surgical outcomes of sporadic cerebellar hemangioblastomas. Clinical neurology and neurosurgery 125, 160–165, (2014). 8. Chen, L. F. et al.[nature.com]

    Missing: Hyperpigmented Macules of Buccal Mucosa Sensorineural Hearing Loss Associated with ELSTs
  • Renal Carcinoma

    Molecular genetic analysis of the von Hippel-Lindau disease tumor suppressor gene in familial and sporadic cerebellar hemangioblastomas.[ncbi.nlm.nih.gov]

    Missing: Hyperpigmented Macules of Buccal Mucosa Sensorineural Hearing Loss Associated with ELSTs
  • Papillary Cystadenoma of the Kidney

    Sprenger,-S-H; Gijtenbeek,-J-M; Wesseling,-P; Sciot,-R; van-Calenbergh,-F; Lammens,-M; Jeuken,-J-W Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas[malattierare.regione.veneto.it] Somatic VHL gene mutations have been detected in sporadic tumors from other organs affected in VHL, including cerebellar hemangioblastoma and epididymal cystadenoma.[ommbid.mhmedical.com] Both clear cell renal carcinoma and cerebellar hemangioblastoma are characterized by a marked elevation in expression of vascular endothelial growth factor (VEGF).[ommbid.mhmedical.com]

    Missing: Hyperpigmented Macules of Buccal Mucosa Sensorineural Hearing Loss Associated with ELSTs
  • Retinal Angioma

    Sprenger,-S-H; Gijtenbeek,-J-M; Wesseling,-P; Sciot,-R; van-Calenbergh,-F; Lammens,-M; Jeuken,-J-W Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas[malattierare.regione.veneto.it]

    Missing: Hyperpigmented Macules of Buccal Mucosa Sensorineural Hearing Loss Associated with ELSTs
  • Ovarian Papillary Cystadenoma

    Sprenger,-S-H; Gijtenbeek,-J-M; Wesseling,-P; Sciot,-R; van-Calenbergh,-F; Lammens,-M; Jeuken,-J-W Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas[malattierare.regione.veneto.it]

    Missing: Hyperpigmented Macules of Buccal Mucosa Sensorineural Hearing Loss Associated with ELSTs
  • Central Nervous System Cyst

    Sprenger,-S-H; Gijtenbeek,-J-M; Wesseling,-P; Sciot,-R; van-Calenbergh,-F; Lammens,-M; Jeuken,-J-W Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas[malattierare.regione.veneto.it]

    Missing: Hyperpigmented Macules of Buccal Mucosa Sensorineural Hearing Loss Associated with ELSTs
  • Cerebellar Neoplasm

    Patients with VHL tend to be younger, and have multiple hemangioblastomas at presentation. 41, 43 – 45 Sporadic, compared to VHL-associated cerebellar hemangioblastomas, are[clinicalgate.com]

    Missing: Hyperpigmented Macules of Buccal Mucosa Sensorineural Hearing Loss Associated with ELSTs