Open AccessLipoid proteinosis in a six-year-old child
Author(s) -
Surajit Nayak,
Basanti Acharjya
Publication year - 2012
Publication title -
indian dermatology online journal
Language(s) - English
Resource type - Journals
eISSN - 2249-5673
pISSN - 2229-5178
DOI - 10.4103/2229-5178.93490
Subject(s) - medicine , scars , eyelid , dermatology , pathology , rare disease , disease , ophthalmology
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.