Lipoid proteinosis

An, İsa; Aksoy, Mustafa; Öztürk, Murat; Ayhan, Erhan

doi:10.33204/mucosa.936953

Cited by 5 publications

(1 citation statement)

References 63 publications

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“…Non-functional ECM1 protein causes pathological changes in homeostatic balance. This results in the formation of clinical manifestations typical of lipoid proteinosis disease 7 . Although it is stated that lipoid proteinosis occurs due to genetic reasons, information about the pathophysiology of this disease is quite limited.…”

Section: Introductionmentioning

confidence: 99%

Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome)

Taskin

Çelik

Taşkın

et al. 2022

Rev. Assoc. Med. Bras.

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OBJECTIVE: Lipoid proteinosis is a rare autosomal recessive genetic dermatological disease that occurs due to the accumulation of hyaline material in the skin and mucous membranes. This study aimed to investigate whether dynamic thiol-disulfide homeostasis is a new marker of oxidative stress in patients suffering from lipoid proteinosis. METHODS: The study group involved 17 patients with lipoid proteinosis and 17 healthy controls with same gender and age. Native thiol, total thiol, disulfide levels, and thiol-disulfide indexes were measured with the fully automated spectrophotometric method described by Erel and Neselioglu, and the results of the two groups were statistically analyzed. RESULTS: Serum total thiol and native thiol levels were significantly lower in lipoid proteinosis group compared to the control group (p=0.020 and p=0.014, respectively). The disulfide levels were found to be higher in lipoid proteinosis group, but there was no significant difference between two groups. CONCLUSIONS: Impaired dynamic thiol-disulfide homeostasis was observed in lipoid proteinosis patients, suggesting that thiol-disulfide homeostasis may have a role in the pathogenesis of this disease.

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Section: Introductionmentioning

confidence: 99%

Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome)

Taskin

Çelik

Taşkın

et al. 2022

Rev. Assoc. Med. Bras.

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A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye

Taşdelen,

Sezer,

2024

American J of Med Genetics Pt A

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Lipoid proteinosis (LP) is an inherited disorder characterized by the accumulation of hyaline‐like material in the skin, oral cavity, and larynx. The primary symptoms include hoarseness, restricted tongue movements, and various skin lesions. LP is caused by biallelic pathogenic variants in the ECM1 gene. We studied 20 patients from nine different families with LP, 19 of whom are from Şanlıurfa in the southeastern region of Turkiye. Overall, the clinical features of the patient cohort were consistent with those mentioned in the literature, except for one exhibited an atrophoderma vermiculatum‐like lesion, which is atypical for LP. The clinical exome sequencing analysis revealed three different homozygous variants in the ECM1 gene (NM_004425). While c.1246C>T p.(Arg416*) on Exon 8 and c.806G>A p.(Cys269Tyr) on Exon 7 were detected in 1 patient each, an intragenic deletion of 1163 base‐pairs including Exons 9 and 10 (c.1304 + 33_*300del) was identified in 18 patients from 7 unrelated families. The haplotype analysis of the deletion variant indicated a founder effect in the families from the Şanlıurfa province of Turkiye. Based on all this information, copy number variation analysis is recommended for patients with LP. In addition to this rare observation, this study represents the largest examination of the molecular spectrum of LP patients in Turkiye, alongside the clinical spectrum.

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Cutaneous findings and treatment responses of lipoid proteinosis patients

2024

Int J Dermatology

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ObjectivesLipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by the accumulation of hyaline‐like material in the skin, oral mucosa, larynx, and brain. This study aimed to evaluate the dermatological findings and treatment responses of patients diagnosed with LP.MethodsThis retrospective study included 41 patients diagnosed with LP at our clinic between May 2018 and January 2023. The diagnosis of LP was established in 22 patients by detecting mutations in the ECM1 gene. In comparison, in 19 patients, it was based on typical clinical findings and histopathological examination of lesioned skin. Clinical and demographic data such as dermatological findings, treatments received, and responses to treatment were recorded from patient files.ResultsAll patients exhibited skin thickening and acneiform scars. The most commonly observed additional dermatological findings were moniliform blepharosis (60.9%), varioliform scars (29.2%), waxy papules and plaques (24.3%), and blisters with crusts (19.5%). Verrucous lesions, diffuse yellow plaques, and scarring alopecia were observed in adult patients, while hypopigmented lesions and blisters with crusts were seen in the pediatric age group. The most frequently used treatments were acitretin (14.6%) and systemic steroids (9.7%). No improvement in skin lesions was observed in patients treated with acitretin, whereas complete resolution of blisters with crusts was noted in patients treated with systemic steroids.ConclusionsIn addition to the existing literature on dermatological manifestations of LP, hypopigmented lesions and atrophoderma vermiculatum‐like lesions can also be observed in these patients. We believe that short‐term systemic steroid therapy for vesiculobullous lesions can be considered for treatment. We think prospective studies with more patients and requiring long‐term follow‐up are needed regarding the effectiveness of acitretin treatment.

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Lipoid proteinosis

Cited by 5 publications

References 63 publications

Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome)

Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome)

A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye

Cutaneous findings and treatment responses of lipoid proteinosis patients

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