References
- Wei Z, Labbe A, Liang Q. Lipoid Proteinosis presenting as beaded papules of the eyelid: report of three cases. BMC Ophthalmol. 2021;21(1):35. doi:10.1186/s12886-021-01802-z
- Hamada T, McLean WI, Ramsay M, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 2002;11(7):833–840. doi:10.1093/hmg/11.7.833
- McGrath JA. Lipoid proteinosis. Handb Clin Neurol. 2015;132:317–322.
- Chan I, Liu L, Hamada T, et al. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol. 2007;16(11):881–890. doi:10.1111/j.1600-0625.2007.00608.x
- Bhattacharjee R, Chatterjee D, Vinay K. Lipoid Proteinosis. JAMA Dermatol. 2018;154(12):1479–1480. doi:10.1001/jamadermatol.2018.3435
- Loos E, Kerkhofs L, Laureyns G. Lipoid proteinosis: a rare cause of hoarseness. J Voice. 2019;33(2):155–158. doi:10.1016/j.jvoice.2017.05.024
- Shah JS, Shah HA. Lipoid proteinosis: review of Indian cases. J Oral Maxillofac Pathol. 2022;26(2):236–241. doi:10.4103/jomfp.jomfp_249_21
- Sabater-Abad J, Matellanes-Palacios M, Pont-Sanjuan V, Miquel-Miquel J, Navarro-Conde P, Gimeno-Carpio E. Oral ulcer-a disabling manifestation in a patient with lipoid proteinosis. JAMA Dermatol. 2019;155(8):977–979. doi:10.1001/jamadermatol.2019.0805
- Sellami D, Masmoudi A, Turki H, et al. Manifestations ophtalmologiques de la hyalinose cutanéo-muqueuse [Ophthalmic manifestations of lipoid proteinosis]. Presse Med. 2006;35(5 Pt 1):796–798. French. doi:10.1016/S0755-4982(06)74693-0
- Appenzeller S, Chaloult E, Velho P, et al. Amygdalae calcifications associated with disease duration in lipoid proteinosis. J Neuroimaging. 2006;16(2):154–156. doi:10.1111/j.1552-6569.2006.00018.x
- Teive HA, Pereira ER, Zavala JAA, et al. Generalized dystonia and striatal calcifications with lipoid proteinosis. Neurology. 2004;63(11):2168–2169. doi:10.1212/01.WNL.0000145602.64073.C2
- Pilz AC, Zink A, Franz R, et al. Pyoderma gangrenosum in a patient with lipoid proteinosis (Urbach-Wiethe disease). J Eur Acad Dermatol Venereol. 2019;33(8):e293–e295. doi:10.1111/jdv.15564
- Frenkel B, Vered M, Taicher S, et al. Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases. Clin Oral Investig. 2017;21(7):2245–2251. doi:10.1007/s00784-016-2017-7
- Hamada T. Lipoid proteinosis. Clin Exp Dermatol. 2002;27(8):624–629. doi:10.1046/j.1365-2230.2002.01143.x
- Hamada T, Wessagowit V, South AP, et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol. 2003;120(3):345–350. doi:10.1046/j.1523-1747.2003.12073.x
- Hofer PA. Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis, hyalinosis cutis et mucosae). A clinico-genetic study of 14 families from northern Sweden. Hereditas. 1974;77(2):209–218. doi:10.1111/j.1601-5223.1974.tb00934.x
- Hortensius R, Terburg D, Morgan B, et al. The dynamic consequences of amygdala damage on threat processing in Urbach-Wiethe Disease. A commentary on Pishnamazi et al. (2016). Cortex. 2017;88:192–197. doi:10.1016/j.cortex.2016.07.013
- Vahidnezhad H, Youssefian L, Uitto J. Lipoid proteinosis. In: GeneReviews(®). Adam MP, Feldman J, Mirzaa GM, et al. editor, Seattle: University of Washington, Seattle Copyright © 1993–2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993.
- Mainali S, Nayak R, Gaur S. Oral findings in a child with lipoid proteinosis: a case report and review. J Indian Soc Pedod Prev Dent. 2011;29(1):62–67. doi:10.4103/0970-4388.79946