Full Blown Case of Lipoid Proteinosis

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

“…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].…”

“…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].…”

Lipoid proteinosis: Review of Indian cases

“…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%).…”

“…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 .…”

A Case Report of Lipoid Proteinosis with Brain and Laryngeal Presentation

“…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.…”