Oral manifestations of lipoid proteinosis in a 10-year-old female: A case report and literature update

Lipoid proteinosis: Review of Indian cases

“…It is due to vocal cord infiltration by hyaline deposits. [ 3 13 ] All cases had similar findings except two cases. [ 6 18 ]…”

“…In addition, normal Collagen IV binding is impaired, resulting in increased expression of Collagen V giving all dermatological, oral, and histopathological changes. [ 3 21 31 ]…”

“…Lipoid proteinosis (LP), also known as Urbach-Wiethe syndrome, (Hyalinosis cutis et mucosae), is a rare autosomal recessive disorder characterized by the deposition of amorphous hyaline material in the dermis and submucosal connective tissue. [ 1 2 3 ] First described by Urbach and Wiethe in 1929, originally as “Lipoidosis cutis et mucosae.” After decade, Urbach changed the term to “LP cutis et mucosae” believing that the condition was associated with abnormal lipid and protein deposition in various tissues. Since then attempts to characterize the biochemical alteration in LP have not yield pathognomic findings.…”

“…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 .…”

Lipoid proteinosis

“…Hypoplasia or aplasia may occur in the teeth, especially in the lateral incisors and premolars. 11,[32][33][34][35][36] The largest series of oral findings observed in patients with LP was analyzed by Frenkel et al They analyzed 133 cases from 1948 to 2016, as well as four cases of their own. In this study, tongue (68%), floor of the mouth (55.8%), lips (43%) and buccal mucosa (40%) were found to be the most frequently affected mouth regions.…”