OTOSCLEROSIS: PATHOPHYSIOLOGY, CLINICAL MANIFESTATIONS, DIAGNOSIS, AND ADVANCES IN TREATMENT
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Abstract:
Otosclerosis is a pathological bone remodeling disorder affecting the middle and inner ear. The term derives from "oto," meaning ear, and "sclerosis," referring to abnormal hardening. Initially described by Antonio Maria Valsalva in 1735 and later characterized pathologically by Adam Politzer in 1839, otosclerosis involves the replacement of the normal dense endochondral bone of the otic capsule with irregular spongy bone, which eventually hardens and leads to fixation of the stapes footplate.
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Makarem AO, Hoang TA, Lo WW, Linthicum FH, Fayad JN. Cavitating otosclerosis: clinical, radiologic, and histopathologic correlations. Otol Neurotol. 2010 Apr;31(3):381-4. [PMC free article] [PubMed]
Rudic M, Keogh I, Wagner R, Wilkinson E, Kiros N, Ferrary E, Sterkers O, Bozorg Grayeli A, Zarkovic K, Zarkovic N. The pathophysiology of otosclerosis: Review of current research. Hear Res. 2015 Dec;330(Pt A):51-6. [PubMed]
Koenen L, Gupta G. StatPearls [Internet]. StatPearls Publishing; Treasure Island (FL): Sep 4, 2023. Schwartze Sign. [PubMed]
Bittermann AJ, Wegner I, Noordman BJ, Vincent R, van der Heijden GJ, Grolman W. An introduction of genetics in otosclerosis: a systematic review. Otolaryngol Head Neck Surg. 2014 Jan;150(1):34-9. [PubMed]
Van Den Bogaert K, Govaerts PJ, Schatteman I, Brown MR, Caethoven G, Offeciers FE, Somers T, Declau F, Coucke P, Van de Heyning P, Smith RJ, Van Camp G. A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. Am J Hum Genet. 2001 Feb;68(2):495-500. [PMC free article] [PubMed]
Chen W, Campbell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolidis LS, Aconomou E, Kyamides Y, Christodoulou K, Faghel C, Giguére CM, Alford RL, Manolidis S, Van Camp G, Smith RJ. Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. J Med Genet. 2002 Jul;39(7):473-7. [PMC free article] [PubMed]
Brownstein Z, Goldfarb A, Levi H, Frydman M, Avraham KB. Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. Arch Otolaryngol Head Neck Surg. 2006 Apr;132(4):416-24. [PubMed]
Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G. A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. Eur J Hum Genet. 2007 Mar;15(3):362-8. [PubMed]
Bel Hadj Ali I, Thys M, Beltaief N, Schrauwen I, Hilgert N, Vanderstraeten K, Dieltjens N, Mnif E, Hachicha S, Besbes G, Ben Arab S, Van Camp G. A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9. Hum Genet. 2008 Apr;123(3):267-72. [PubMed]