Successful use of acitretin in an indian child with lipoid proteinosis

Supekar, BhagyashreeBabanrao; Kote, ShraddhaP; Chopkar, ApoorvaDhananjay; Mukhi, JayeshIshwardas

doi:10.4103/ijpd.ijpd_95_21

Cited by 2 publications

(1 citation statement)

References 8 publications

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“…11 The management is multidisciplinary and the role of other specialists along with the pediatrician lies in early diagnosis as well as assuring follow up and explaining the outcome which may not be as good with no definitive available treatment. 12…”

Section: Discussionmentioning

confidence: 99%

Urbach-Wiethe disease: a rare pediatric case report

Shetty,

Pariath,

Patel

et al. 2023

Int J Contemp Pediatr

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Urbach-Wiethe disease also known as lipoid proteinosis (LP) is a rare autosomal recessive Geno dermatosis.1 It is characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera and is also known as cutaneous-mucosal hyalinosis.2,3 Parental consanguinities is identified in approximately 20% of Urbach-Wiethe disease cases. The classic manifestation due to laryngeal infiltration is a hoarse cry with its onset in infancy. Skin and mucous membrane changes become clinically apparent important consequences.4 Rarely, the central nervous system and respiratory tract may be involved resulting in seizures and airway obstruction, respectively. The lifespan is generally normal. We report a case of Urbach-Wiethe disease in a 6-year-old boy with hoarseness of voice who was started on oral acitretin therapy following his diagnosis. Oral acitretin can prove useful in cases of lipoid proteinosis who present with hoarseness of voice or vocal cord palsy. The mutations in the gene encoding extracellular matrix protein 1 (ECM1) have been linked to lipoid proteinosis. Even though no effective treatment is known, acitretin has proved to reverse hoarseness of voice in few reported cases and was started in our case as it was his chief presenting complaint.

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Section: Discussionmentioning

confidence: 99%

Urbach-Wiethe disease: a rare pediatric case report

Shetty,

Pariath,

Patel

et al. 2023

Int J Contemp Pediatr

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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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Successful use of acitretin in an indian child with lipoid proteinosis

Cited by 2 publications

References 8 publications

Urbach-Wiethe disease: a rare pediatric case report

Urbach-Wiethe disease: a rare pediatric case report

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

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