Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration

Lucas M. Viana, Mohammad Seyyedi, Carmen C. Brewer, Christopher Zalewski, John J. Digiovanna, Deborah Tamura, Mariam Totonchy, Kenneth H. Kraemer, Joseph B. Nadol

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

Introduction: Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations resulting in defective repair of DNA damage. XP patients have a markedly increased risk of ultraviolet-induced neoplasms and premature aging of sun-exposed tissue. Approximately 25% of XP patients in the United States have neurologic abnormalities including progressive sensorineural hearing loss (SNHL). Objective: To describe the temporal bone histopathology in 2 individuals with XP (XPA and XPD) with neurologic degeneration and to discuss the possible causes of deafness in these patients. Methods: Temporal bones were removed at autopsy and studied using light microscopy. Results: In the case with XPD, the organ of Corti was missing throughout the cochlea, whereas the case with XPA demonstrated scattered presence of sensory cells in the middle and apical turns. In both cases, there was moderate-to-severe patchy atrophy of the stria vascularis in all turns, and cochlear neurons were severely atrophied compared with age-matched controls, with loss of both peripheral dendrites and central axons. There was severe degeneration of Scarpa's ganglion in the case with XPA. Conclusion: Two cases of XP with neurologic degeneration are reported. The case with XPD demonstrated a more severe audiologic phenotype than XPA, although both had similar findings such as atrophy of the organ of Corti, stria vascularis, and spiral ganglia leading to severe or profound SNHL by the third decade of life. It is not clear if the neuronal degeneration in the inner ear was primary or secondary to loss of neuroepithelial cells.

Original languageEnglish (US)
Pages (from-to)1230-1236
Number of pages7
JournalOtology and Neurotology
Volume34
Issue number7
DOIs
StatePublished - Sep 1 2013
Externally publishedYes

Keywords

  • DNA repair
  • Sensorineural hearing loss
  • Temporal bone histopathology
  • Xeroderma pigmentosum

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Sensory Systems
  • Clinical Neurology

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    Viana, L. M., Seyyedi, M., Brewer, C. C., Zalewski, C., Digiovanna, J. J., Tamura, D., Totonchy, M., Kraemer, K. H., & Nadol, J. B. (2013). Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration. Otology and Neurotology, 34(7), 1230-1236. https://doi.org/10.1097/MAO.0b013e31829795e9