Evaluation of cochlear involvement and hearing function in lipoid proteinosis patients

Abstract

Lipoid proteinosis (LP) is a rare autosomal recessive inherited genodermatosis in which amorphous hyaline material accumulation is seen in the skin, oral mucosa, eyelid, larynx, mucous membranes, and viscera. [1][2][3] LP is generally slow progressing, benign, and manifests itself with hoarseness and skin lesions in the first two years of life. 4 Three hundred fifty cases have been reported in the literature so far. [5][6][7][8] LP disease is more common in the southeast Anatolia region due to consanguineous marriages in this region of our country. 8 LP develops as a result of decreased expression in the extracellular matrix protein 1(ECM1) gene. [9][10][11] The ECM1 protein binds to the matrix metalloproteinase-9 (MMP9) enzyme, which plays an essential role in immune cell function. 12 Mutations in the ECM1 gene prevent this protein from adequately interacting with MMP9 and, thus, contribute to the pathological changes that develop in LP. 13 Oxidative stress plays a role in LP's pathogenesis. 13 Also, oxidative stress plays a role in the etiopathogenesis of hearing loss. [14][15][16] In this study, we aimed to investigate the effects of hyaline accumulation on cochlear function and hearing in LP patients who did not

Lipoid proteinosis

“…Approximately 400 cases have been reported so far in the literature. 1,4,8,[14][15][16][17] In particular, it is more often seen in South Africa, in the North Cape Province, including the Namaqualand region where immigrants migrated from Germany in the mid 17 th century. 18 The majority of LP patients in the literature are reported from Turkey although real prevalence is not known.…”

“…18 The majority of LP patients in the literature are reported from Turkey although real prevalence is not known. 1,4,8,14,19,20 We think that consanguineous marriage rates in eastern Turkey may have an effect on this.…”

“…It was stated that cochlear functions of patients with LP were affected by the increase in their hearing thresholds, and decreased signal-noise responses, and it was stated that LP patients were candidates for hearing loss in their later stage of life. 8…”

“…Almost any organ can be affected. [7][8][9][10][11] The affected individuals have a normal survey unless laryngeal obstruction develops. There is no precise and effective treatment of the disease.…”