Histopathological findings in patients with lipoid proteinosis

An, İsa; Güldür, Muhammet Emin; Aksoy, Mustafa; Yeşilova, Yavuz; Öztürk, Murat

doi:10.4103/tjd.tjd_8_19

Cited by 6 publications

(19 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In LP, normal function loss of ECM1 causes infiltration with hyaline-like material in the skin, mucosa, and internal organs. [8][9][10] In the study of Celik et al in LP patients, oxidant parameters were higher and antioxidant parameters were lower than the control group.…”

Section: Discussionmentioning

confidence: 93%

See 1 more Smart Citation

Evaluation of inflammatory parameters in lipoid proteinosis patients

Aksoy

2020

Dermatologic Therapy

Self Cite

View full text Add to dashboard Cite

Lipoid proteinosis (LP) is a rare metabolic storage disease characterized by the storage of hyaline-like substances in the skin, mucosa, and many other organs. The aim of this study was to compare the neutrophil/lymphocyte ratio (NLR), platelets/lymphocyte ratio (PLR), and mean platelet volume (MPV) values of LP patients with healthy control group and to determine the usefulness of these parameters in deter

show abstract

Section: Discussionmentioning

confidence: 93%

“…LP develops as a result of decreased expression in the ECM1 gene, which located in 1 chromosome and plays an important role in angiogenesis, epidermal differentiation and wound healing. In LP, normal function loss of ECM1 causes infiltration with hyaline‐like material in the skin, mucosa, and internal organs 8‐10 …”

Section: Discussionmentioning

confidence: 99%

Evaluation of inflammatory parameters in lipoid proteinosis patients

Aksoy

2020

Dermatologic Therapy

Self Cite

View full text Add to dashboard Cite

show abstract

“…8 The sound waves are distorted due to the accumulation of subepithelial hyaline in the vocal cord, hoarseness develops, and the disease could be mistaken for chronic laryngitis by clinicians. 8,19,20 It is observed in the form of thickening of the vocal cord due to mucosal hyaline accumulation in the larynx, hypertrophic changes in the epiglottis, interaritenoid area, and vegetative lesions in the larynx. 7,21 In oral mucosa involvement, lesions in the form of erosion, ulceration, and whitish plaques can be observed in the oral mucosa, and these lesions are most commonly observed in the tongue, floor of the mouth, lips, and buccal mucosa.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

mentioning

confidence: 99%

“…[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.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Evaluation of cochlear involvement and hearing function in lipoid proteinosis patients

Yukkaldiran

Erdoğan

2020

J of Cosmetic Dermatology

View full text Add to dashboard Cite

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

show abstract

Are the kidneys involved in lipoid proteinosis? Study of 22 patients

Yılmaz

Şahin

et al. 2021

Int J Clin Pract

Self Cite

View full text Add to dashboard Cite

Lipoid proteinosis (LP) is a multisystem disease, with the primary manifestations present as early as infancy with hoarseness, and typically characterised by fragile macular or papular skin and mucosal lesions with additional neurologic and psychiatric manifestations in some cases. 1,2 As a result of the indolent and benign course, except for seizures and/or respiratory obstruction in some cases, it may be hard to find the true prevalence of LP, while there have been a few hundred patients reported to date. [1][2][3][4][5][6][7][8][9][10][11] For the same reason, the clinical presentation of LP has been relatively better defined from the perspective of dermatology, whereas the extent and distribution of visceral involvement have remained yet to be investigated. This genodermatosis is inherited autosomal recessively, and mutated extracellular matrix protein gene (ECM1, 1q21.2) leads to the accumulation of hyaline matrix within the affected tissues.

show abstract

Histopathological findings in patients with lipoid proteinosis

Cited by 6 publications

References 0 publications

Evaluation of inflammatory parameters in lipoid proteinosis patients

Evaluation of inflammatory parameters in lipoid proteinosis patients

Evaluation of cochlear involvement and hearing function in lipoid proteinosis patients

Are the kidneys involved in lipoid proteinosis? Study of 22 patients

Contact Info

Product

Resources

About