title: Lipoid proteinosis in a six-year-old child.
abstract: Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body along with pox-like and acneiform scars. We report here a 6-year-old female child with LiP, who presented to our OPD for recurrent vesicullobullous lesions and beaded lesions over eyelid margins.
authors.affiliation: Department of Skin and VD, MKCG Medical College and Hospital, Berhampur, Orissa, India.
authors.forename: Surajit
authors.initials: S
authors.lastname: Nayak
authors.forename: Basanti
authors.initials: B
authors.lastname: Acharjya
keywords: Childhood; lipoid proteinosis; moniliform blepharosis