Lipoid Proteinosis: A Rare Disease in Pediatric Dentistry

Lourenço, Alan Grupioni; Araújo, Vera Cavalcanti de; Passador-Santos, Fabrício; Sperandio, Marcelo; Neville, Brad W.; Dorta, Regina Garcia

doi:10.1016/j.oooo.2020.04.016

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2021

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“…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.…”

Section: Mucosal Findingsmentioning

confidence: 99%

Lipoid proteinosis

Aksoy

Öztürk

et al. 2021

Mucosa

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Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the accumulation of an amorphous hyaline material in various regions of the body, including skin, mucous membranes, brain, internal organs. LP is caused by mutations in the gene encoding the extracellular matrix protein 1 (ECM1) found on chromosome 1q21. Although this disease is rare, it is more reported in areas where consanguineous marriages are common. During the infancy, it begins with hoarseness due to laryngeal infiltration. Gradually, skin and mucous changes become clinically evident. The affected individuals have a normal survey unless laryngeal obstruction develops. A multidisciplinary approach is recommended for monitoring these patients.

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