Clinical and molecular characterization of lipoid proteinosis in three Indian families

Srinivas, Sahana M; Maganthi, Madhuri; Chandrasekaran, Priya Jeevamani; Gowdra, Aruna; Raghupathy, P.

doi:10.4103/ijpd.ijpd_9_20

Cited by 6 publications

(10 citation statements)

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“…[ 3 8 ] Twelve cases have been found with such radiographic changes. [ 5 6 8 17 18 20 33 ] In the present case also along with typical radiographic changes, the absence of all 2 nd premolars was found giving typical case of LP.…”

Section: Review and Discussionsupporting

confidence: 68%

“…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%

“…Only 10 cases have reported systemic involvement in which, the most common feature is seizure and mental retardation. [ 5 9 14 15 16 17 18 19 20 ]…”

Section: Review and Discussionmentioning

confidence: 99%

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Lipoid proteinosis: Review of Indian cases

Shah

2022

J Oral Maxillofac Pathol

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Section: Review and Discussionsupporting

confidence: 68%

Section: Review and Discussionmentioning

confidence: 99%

Section: Review and Discussionmentioning

confidence: 99%

“…Only 10 cases have reported systemic involvement in which, the most common feature is seizure and mental retardation. [ 5 9 14 15 16 17 18 19 20 ]…”

Section: Review and Discussionmentioning

confidence: 99%

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Lipoid proteinosis: Review of Indian cases

Shah

2022

J Oral Maxillofac Pathol

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“…Although various mutational types including frameshift, missense, nonsense, splice site, small and gross insertions and deletions affecting all 10 exons have been reported, overwhelming majority of mutations were in exon-6 and exon-7 and found to have missense or nonsense mutation. 2 , 3 …”

Section: Introductionmentioning

confidence: 99%

Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh

et al. 2023

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Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice, accelerated photoaging appearance, enlarged and erythematous tongue with restricted movement and widespread dermatoses. Biopsy of oral mucosa revealed Periodic acid-Schiff (PAS)-positive amorphous eosinophilic hyaline deposits. Mutational analysis revealed a homozygous nonsense mutation with C to T substitution at nucleotide position 1246(c.1246C>T) in exon-8 of the extracellular matrix protein 1 gene leading to a stop codon. Both the parents were unaffected heterozygous carriers. To our knowledge, this is the first case report of lipoid proteinosis with evidence of a novel nonsense genetic mutation from Bangladesh. doi: https://doi.org/10.12669/pjms.39.4.7437 How to cite this: Khan MAH, Reza MA, Sharaf IM, Alam MJ, Rahman MM, Chandra P, et al. Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh. Pak J Med Sci. 2023;39(4):---------. doi: https://doi.org/10.12669/pjms.39.4.7437 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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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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Clinical and molecular characterization of lipoid proteinosis in three Indian families

Cited by 6 publications

References 0 publications

Lipoid proteinosis: Review of Indian cases

Lipoid proteinosis: Review of Indian cases

Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh

Urbach-Wiethe disease: a rare pediatric case report

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