Etiopathogenesis of Otosclerosis

Abstract

Otosclerosis is a frequent cause of nonsyndromic hearing loss which affects exclusively the human temporal bone. Various etiopathogenetic hypotheses have been proposed. The major hypotheses considered are genetic factors, immunologic factors and viral infection. Since the familial incidence of otosclerosis is known a recent genetic analysis has given evidence of three otosclerosis genes (OTSC1–3). Mutations in the collagen gene COL1A1 have been found in one large family with several cases of otosclerosis. Concerning an immunologic etiopathogenetic process, the presence of serum antibodies against collagen II and IX in patients with otosclerosis confirms the hypothesis of a collagen autoimmune mechanism. Finally as a possible cause of this chronic inflammatory disease morphologic and biochemical investigations have revealed a measles virus association. In conclusion, various etiopathogenetic factors may contribute to the genesis of otosclerosis.

Lack of association between SNP rs3914132 of the RELN gene and otosclerosis in India

“…The mean age of onset of hearing loss was found to be 34 years, but a mean of 41 years was reported in a South African population (Tshifularo and Joseph, 2008). However, it is known that the mean age of onset of deafness in OTSC is in the third decade with some cases exceptionally beginning in early childhood or as late as at 60 years (Niedermeyer and Arnold, 2002). Pure tone audiometry shows a high number of patients with mixed hearing loss and conductive hearing loss, which is the characteristic feature of OTSC (Table 1).…”

Doença de Castleman associada a derrame pleural

“…Various etiopathogenic hypotheses have been proposed, and the principal ones consider immunological, viral infectious, and genetic factors, including the identification of the gene implicated (OTSC1-3). (19) The cause of the bilateral otosclerosis presented by the patient was not identified. Could there be a relationship between otosclerosis and CD?…”

Stapedotomy and its effect on hearing – our experience with 54 cases

“…In about 60% of the affected patients, family members also have otosclerosis [4][5][6] . The disease occurs twice as much in women than men [1][2][3][4] and pregnancy has been reported to contribute to worsening of the symptoms in the affected patient 8 . The most common symptom is a slow progressive hearing loss that presents from age 20 to 45 years Otosclerosis can occur in both ears in about 80% of patients.…”