Navigating the Uncommon: A Case Study of Pregnancy in Lipoid Proteinosis

Introduction Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis characterized by the deposition of hyaline-like material in various tissues, including the skin, mucous membranes, and internal organs. Fewer than 300 cases have been reported in the literature to date. The condition is caused by mutations in the ECM1 gene located on chromosome 1q21, leading to a loss of function of the extracellular matrix protein 1. This protein plays a crucial role in skin integrity, angiogenesis, and binding of dermal collagen and proteoglycans. The clinical manifestations of LP are diverse, often involving the skin, oral cavity, and central nervous system. Pregnancy in patients with LP is exceedingly rare, and its implications are not well understood. While specific complications of LP in pregnancy are not well-documented due to the rarity of the disease, following are the systems involved with associated complications in lipoid Proteinosis.