A case report of a 6-year-old male child who reported with recurrent oral and skin ulcerations since childhood and was diagnosed as lipoid proteinosis manifesting with generalized thickening, hardening, and scarring of the skin and hoarseness of voice; is presented here.
How to cite this article: Mittal HC, Yadav S, Malik S, Singh G. Lipoid Proteinosis. Int J Clin Pediatr Dent 2016;9(2):149-151.
Nanda A, Alsaleh QA, Al-Sabah H, Ali AM, Anim JT. Lipoid proteinosis: report of four siblings and brief review of the literature. Pediatr Dermatol 2001 Jan-Feb;18(1):21-26.
Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol 2007 Nov;16(11):881-890.
Muda AO, Paradisi M, Angelo C, Mostaccioli S, Atzori F, Puddu P, Faraggiana T. Lipoid proteinosis: clinical, histological and ultra structural investigations. Cutis 1995 Oct;56(4): 220-224.
Bergenholtz A, Hofer PA, Ohman J. Oral, pharyngeal and laryngeal manifestations in Urbach-Wiethe disease. Ann Clin Res 1977 Feb;9(1):1-7.
Kansky A, Glavaè D. Erythropoietic protoporphyria. A short report. Acta Dermatoven APA 2004;13(1):13-19.
Wong CK, Lin CS. Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol 1988 Oct;119(4): 541-544.
Gruber F, Maestar, D, Stasic A, Grgurevic Z. Treatment of lipoid proteinosis with etretinate. Acta Derm Venereol 1996 Mar;76(2):154-156.
Kaya TI, Kokturk A, Tursen U, Ikizoglu G, Polat A. D-penicillamine treatment for lipoid proteinosis. Pediatr Dermatol 2002 Jul-Aug;19(4):359-362.
