Lipoid proteinosis of the larynx in siblings: exploring new modalities of treatment

Madhira, Srivalli; Qaiyum, Hamid Abdul; Moorthy, Prayaga N. Srinivas

doi:10.1007/s12070-009-0020-x

Cited by 4 publications

(2 citation statements)

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“…Hence, review of 51 cases of LP reported in India from 1969 to 2021 is done along with the present case [ Table 1a – c ]. [ 1 4 5 6 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 ] LP is more reported in patients in the age group of 11-20 (51%). More prevalence of LP is reported in males (70.6%).…”

Section: Review and Discussionmentioning

confidence: 99%

“…On review of oral manifestations, 42 cases were found as shown in Table 1c . [ 1 4 5 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 25 26 27 28 29 30 31 32 33 34 35 37 38 39 42 43 44 ] The most common involved site is tongue with typical thick woody appearance followed by restricted tongue movements. In the present case, also similar findings were present.…”

Section: Review and Discussionmentioning

confidence: 99%

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Lipoid proteinosis

Shah

2022

Journal of Oral and Maxillofacial Pathology

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Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by the deposition of amorphous hyaline material in the dermis and submucosal connective tissue. To date <500 cases of LP have been described and oral manifestations described in a very few reports. Indian cases are much less reported and reviewed. Hence, here review of 51 Indian LP cases along with a case of histologically proven LP in 12-year-old male patient with typical skin, ocular, laryngeal, oral and radiographic features is done. Cases from 1969 to 2021 were collected using keyword LP on google and google scholar and Indian cases were analyzed afterward. Review with case presentation regarding oral manifestations will help the oral physician to diagnose LP in early stage.

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Section: Review and Discussionmentioning

confidence: 99%

Section: Review and Discussionmentioning

confidence: 99%

Lipoid proteinosis

Shah

2022

Journal of Oral and Maxillofacial Pathology

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A comprehensive Review on Lipoid Proteinosis with Emphasis on ECM1 Gene Mutation

2017

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Advances in treatment for lipoid proteinosis (Urbach–Wiethe disease): a case report and systematic review

Bueno-Molina,

Hernández-Rodríguez,

Cabrera-Fuentes

et al. 2024

Clinical and Experimental Dermatology

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Lipoid proteinosis, also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis, caused by mutations in the ECM1 gene. This results in the deposition of PAS-positive, hyaline-like material on the skin, mucosae, and internal organs. Here, we present a case report of a 48-year-old man with lipoid proteinosis who exhibited significant improvement after oral acitretin therapy. To address the lack of large case-control studies on lipoid proteinosis treatment, we performed a systematic review of the literature following the PRISMA 2020 criteria. The search was conducted in PubMed, Web of Science, Cochrane, and Scopus databases from inception until June 2023. To assess the methodological quality of case reports and case series, we used the critical appraisal tool JBI. We included 25 studies that met eligibility criteria. An overall sample of 44 patients with a histopathologically confirmed diagnosis was analyzed. Treatment ranged from systemic therapies (acitretin, etretinate, dimethyl sulfoxide, corticosteroids, D-penicillamine) to surgical or laser procedures. Regarding methodological quality, the main discrepancies arose in the reporting of participant characteristics and treatment interventions. Apparently, low-dose oral acitretin could have potential in managing lipoid proteinosis, exhibiting fewer side effects compared to other therapeutic agents. Further research is needed to establish more comprehensive and evidence-based treatment guidelines.

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Lipoid proteinosis of the larynx in siblings: exploring new modalities of treatment

Cited by 4 publications

References 4 publications

Lipoid proteinosis

Lipoid proteinosis

A comprehensive Review on Lipoid Proteinosis with Emphasis on ECM1 Gene Mutation

Advances in treatment for lipoid proteinosis (Urbach–Wiethe disease): a case report and systematic review

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