Mutational study of Extracellular Matrix Protein 1 in a case of Lipoid Proteinosis from South India.

Dr.Karthika Sivaprakasam; Dr.Balaji Govindan

Volume : IV, Issue : V, May - 2015

Mutational study of Extracellular Matrix Protein 1 in a case of Lipoid Proteinosis from South India.

Dr. Karthika Sivaprakasam, Dr. Balaji Govindan

Abstract :

Lipoid proteinosis (LP), also known as Hyalinosis cutis et mucosae or Urbach–Wiethe disease (OMIM 247100) is a rare, autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera [1]. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement memane [2]. It is caused by loss–of–function mutations in the extracellular matrix protein 1 (ECM1). We conducted mutation analysis of the ECM1 gene in a 23 year old male with lipoid proteinosis. He presented with hoarse voice, asymptomatic skin lesions, scarring beaded eyelid papules and a thickened sublingual frenulum since his childhood. Skin biopsy showed widespread deposition of hyaline material in the dermis and thickened basement memane. The coding region of ECM1 was amplified and sequenced and were shown to have mutations in introns 5, 6, 9 and exons 6, 7, 8. These mutations were concurrent with the mutations of previous studies.