Article
Oral and maxillofacial manifestations of lipoid proteinosis with a novel ECM1 mutation: case report and literature review.
Oral surgery, oral medicine, oral pathology and oral radiology - 1 Jul 2026
Xu Suxuan, Chen Qiyu, Zhang Lei, Zhang He, Wu Juan, Wu Wenlei
Abstract excerpt
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by pathogenic variants in the extracellular matrix protein 1 (ECM1) gene. LP is characterized by infant-onset hoarseness, moniliform blepharosis, skin papulonodules, and tongue firmness. The literature on LP is predominantly dermatology-focused, while detailed descriptions of oral involvement remain scattered. Herein, we present a case with...
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