Full Blown Case of Lipoid Proteinosis

Kachewar, Sushil; Singh, Hariqbal; Sasane, Amol; Bhadane, Sushant

doi:10.1016/s0377-1237(11)80031-6

Cited by 4 publications

(8 citation statements)

References 7 publications

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“…Carbon dioxide laser for the lesions of the eyelids and the aero digestive tract is also under consideration. Anticonvulsants are used when the patient has seizures [1,2].…”

Section: Case Reportmentioning

confidence: 99%

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A Novel Association of the Additional Intracranial Calcification in Lipoid Proteinosis: A Case Report

Kachewar¹,

Kulkarni²

2012

JCDR

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Lipoid Proteinosis (LP) is a genetically linked, autosomally trans ferred, rare, chronic multisystem disease which is characterized by a normal lipid profile, but with abnormal deposits of lipids and proteins in the body, which slowly but steadily leads to systemic manifestations. Although it affects almost all the systems of the body, it predominantly manifests as lesions on the skin and it has characteristic intracranial calcifications. Although, the intracranial calcifications can be classified, based on their aetiopathogenesis, as agerelated and physiologic, congenital, infectious, endocrine and metabolic, vascular, and neoplastic;

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“…Carbon dioxide laser for the lesions of the eyelids and the aero digestive tract is also under consideration. Anticonvulsants are used when the patient has seizures [1,2].…”

Section: Case Reportmentioning

confidence: 99%

“…Lipoid Proteinosis (LP) is a radiologically rare genodermatosis which is caused by the abnormal deposition of lipids and proteins in various systems of the body, even though the lipid profile is normal [1,2].…”

Section: Introductionmentioning

confidence: 99%

A Novel Association of the Additional Intracranial Calcification in Lipoid Proteinosis: A Case Report

Kachewar¹,

Kulkarni²

2012

JCDR

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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%

“…ECM1 deficiency leads to impaired protein-protein interaction, resulting in altered degradation of glycolipids and sphingolipids, as well as accumulation of basement membrane collagen types and hyaline material. [ 4 ] It is estimated that <500 cases of LP have been described in the literature with most of these reports focusing on ocular and dermatologic manifestations[ 3 5 6 ] and approximately 137 cases of LP with oral manifestation are reported to 2016. [ 7 ] In India, approximately 51 cases reported to the date and review of all Indian cases are shown in Table 1a - c .…”

Section: Introductionmentioning

confidence: 99%

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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“…Genotype-phenotype correlation has not been shown for neurologic features (1). This disease shows no race, sex or age tendency (5). Distribution of the disease is worldwide.…”

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confidence: 90%

A Case Report of Lipoid Proteinosis with Brain and Laryngeal Presentation

et al. 2020

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: Lipoid proteinosis is a rare autosomal recessive genodermatosis. Genetic mutation leads to deposition of abnormal amounts of hyaline like material in the skin and viscera, which is the cause of clinical manifestations. It mostly involves the skin, intracranium, and the larynx. In this case report, we present a case with a long history of hoarseness. Imaging findings include bilateral true vocal cord (TVC) mucosal irregularity with hyperdense depositions, bilateral medial temporal amygdala parallel bean shape calcification (pathognomonic sign), and bilateral striatal (caudate and putamen) hypoattenuation. The patient also had multiple warty papules on the hands. Biopsy of the right TVC showed submucosal deposition of periodic acid-Schiff (PAS)-positive amorphous hyaline material and confirmed the diagnosis of lipoid proteinosis. Typical imaging findings especially in the brain could be very helpful in interpretation of laryngeal imaging findings in cases of lipoid proteinosis who manifest with long term voice changes and hoarseness.

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Full Blown Case of Lipoid Proteinosis

Cited by 4 publications

References 7 publications

A Novel Association of the Additional Intracranial Calcification in Lipoid Proteinosis: A Case Report

A Novel Association of the Additional Intracranial Calcification in Lipoid Proteinosis: A Case Report

Lipoid proteinosis

A Case Report of Lipoid Proteinosis with Brain and Laryngeal Presentation

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