Lipoid proteinosis

Abstract

Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by the deposition of amorphous hyaline material in the dermis and submucosal connective tissue. To date <500 cases of LP have been described and oral manifestations described in a very few reports. Indian cases are much less reported and reviewed. Hence, here review of 51 Indian LP cases along with a case of histologically proven LP in 12-year-old male patient with typical skin, ocular, laryngeal, oral and radiographic features is done. Cases from 1969 to 2021 were collected using keyword LP on google and google scholar and Indian cases were analyzed afterward. Review with case presentation regarding oral manifestations will help the oral physician to diagnose LP in early stage.

A Sporadic Family of Lipoid Proteinosis with Novel ECM1 Gene Mutations

“… 17 Various treatment modalities have been employed for managing skin lesions, including carbon dioxide lasers, etretinate, acitretin, penicillamine, dimethyl sulfoxide, surgical procedures and dermabrasion. 7 , 18 , 19 Nearly all patients experience laryngeal involvement, and tracheotomy should be considered in cases where severe airway problems are present. 6 In this particular case study, the surgeon recommended surgical intervention at the age of 7 years to address vocal cord issues.…”

Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case report

“…Lipoid proteinosis is also known as Urbach-Wiethe disease or cutaneous-mucosal hyalinosis. 1,2 The genetic basis of lipoid proteinosis involve loss-offunction mutations in the gene responsible for encoding extracellular matrix protein 1 (ECM1) on the chromosomal band 1q21. 2 These genetic alterations result in the aberrant accumulation of hyaline material in affected tissues.…”

“…1,2 The genetic basis of lipoid proteinosis involve loss-offunction mutations in the gene responsible for encoding extracellular matrix protein 1 (ECM1) on the chromosomal band 1q21. 2 These genetic alterations result in the aberrant accumulation of hyaline material in affected tissues. Notably, consanguineous parentage has been frequently associated with the inheritance of this rare disorder, suggesting a hereditary basis.…”

“…So, the disease is inherited in not only shows an autosomal recessive pattern, which is heterozygous carriers have an apparently normal phenotype rather may have some subtle changes such as abnormal dentition. 2,3 Clinical features of lipoid characterized by the deposition of amorphous hyaline material in various tissues, including the mucosa, visceral organs, and skin. We report a case of a 11-year-old girl born to consanguineous parents presented with multisystemic manifestations of the disorder.…”

“…So, the disease is inherited in not only shows an autosomal recessive pattern, which is heterozygous carriers have an apparently normal phenotype rather may have some subtle changes such as abnormal dentition. 2 , 3 Clinical features of lipoid proteinosis are myriad, and the literature describes that sometimes considerable variation found in severity between affected patients. The classic manifestation is onset in infancy with a hoarse cry due to laryngeal infiltration.…”