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Case Report

Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation

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Pages 160-164 | Received 21 Jun 2013, Accepted 20 Aug 2013, Published online: 30 Sep 2013

References

  • Hamada T, McLean WH, 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;11:833–840
  • Chan I. The role of extracellular matrix protein 1 in human skin. Clin Exp Dermatol 2004;29:52–56
  • Gordon H, Gordon W, Botha V, et al. Lipoid proteinosis. Birth Defects Orig Artic Ser 1971;7:164–177
  • Kucuk U, Erdogan IG, Bayol U, et al. Urbach-wiethe disease (lipoid proteinosis). Indian J Pathol Microbiol 2012;55:375–376
  • Abtahi SM, Kianersi F, Abtahi MA, et al. Urbach-wiethe syndrome and the ophthalmologist: review of the literature and introduction of the first instance of bilateral uveitis. Case Rep Med 2012;2012:281516
  • Di Giandomenico S, Masi R, Cassandrini D, et al. Lipoid proteinosis: case report and review of the literature. Acta Otorhinolaryngol Ital 2006;26:162–167
  • Muda AO, Paradisi M, Angelo C, et al. Lipoid proteinosis: clinical, histologic, and ultrastructural investigations. Cutis 1995;56:220–224
  • Srivalli M, Qaiyum HA, Moorthy PN. Lipoid proteinosis of the larynx in siblings: exploring new modalities of treatment. Indian J Otolaryngol Head Neck Surg 2009;61:59–61
  • Siebert M, Markowitsch HJ, Bartel P. Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease. Brain 2003;126:2627–2637
  • Gonçalves FG, de Melo MB, de L Matos V, et al. Amygdalae and striatum calcification in lipoid proteinosis. AJNR Am J Neuroradiol 2010;31:88–90
  • Chan I, Liu L, Hamada T, et al. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol 2007;16:881–890
  • 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;120:345–350

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