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Lipoid Proteinosis - Diagnostic Tests

Diagnostic Tests

The first step is always a complete clinical assessment.

Light microscopy: appendages and dermal vessels surrounded by PAS-positive, diastase-resistant, thickened basement membrane and deposition of hyaline material in the dermis.

Electron microscopy: thickening and reduplication of the basement membrane around blood vessels, appendages, smooth muscle cells, nerve endings and beneath the epithelium.

Molecular biology: homozygous or compound heterozygous mutations of the ECM1 gene.

Diagnostic Tools

This section offers to professional users instruments helpful to establish the disease diagnosis. Specific entries include:

  1. model questionnaires, protocols, or checklists, which may guide clinicians and laboratory personnel in the diagnostic procedure of specific disease groups/subgroups;
  2. a list of cell biology/biochemical tools used for laboratory diagnosis of specific diseases or group of diseases;
  3. a list of molecular genetics tools, including mutational screening procedures, oligonucleotide primer sequences, PCR amplification conditions, and other details for selected diseases. In this section, you also find the link for the gene-specific page of the Weizmann Institute of Science GeneCards website (http://www.genecards.org) which is an integrated database including information on disease relationships, SNPs, gene expression, gene function and more.
  4. a mutation database with a GENESKIN updated list of the mutations identified in the genes responsible for selected diseases. A link with the gene-specific page at the Human Gene Mutation Database maintained at the University of Wales in Cardiff (www.hgmd.org) and other databases, such as the collagen database in Leicester (www.le.ac.uk/genetics/collagen), is also available.

Model Questionnaire

A model questionnaire for this disease is not available

Cell Biology Tools

It has been reported that immunofluorescence examination of a lesional skin biopsy can be diagnostic, showing highly reduced/complete absence of expression of ECM1 protein (“Chan I, South AP, McGrath JA, Oyama N, Bhogal BS, Black MM, Hamada T. Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody. J Dermatol Sci 2004;35:151-3”). At present no anti-ECM1 antibodies are commercially available.

Molecular Genetic Tools

Causative genes

ECM1 Genecards Logo

For screening procedures of the ECM1 gene, please refer to the following articles:

  • Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Gene. 2002;11:833-40.
  • Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol 2003;120:345-50.

Mutation Database

Causative genes

ECM1 HGMD Logo

For a list of ECM1 gene mutations, please refer to the following articles:

  • Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Gene. 2002;11:833-40.
  • Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol 2003;120:345-50.
  • Chan I, El-Zurghany A, Zendah B, Benghazil M, Oyama N, Hamada T, McGrath JA. Molecular basis of lipoid proteinosis in a Libyan family. Clin Exp Dermatol 2003;28:545-8.
  • Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H, Jenkins T, McLean WH, McGrath JA, Ramsay M. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol 2004;151:413-23.
  • Chan I, Bingewar G, Patil K, Nayak C, Wadhwa SL, McGrath JA. An Indian child with lipoid proteinosis resulting from a recurrent frameshift mutation (507delT) in the extracellular matrix protein 1 gene. Br J Dermatol 2004;151:726-7.
  • Lupo I, Cefalu AB, Bongiorno MR, Daniele O, Valenti V, Noto D, Camarda R, Savettieri G, Arico M, Averna MR. A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily. Br J Dermatol 2005;153:1019-22.
  • Horev L, Potikha T, Ayalon S, Molho-Pessach V, Ingber A, Gany MA, Edin BS, Glaser B, Zlotogorski A. A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis. Exp Dermatol 2005;14:891-7.
  • Wang CY, Zhang PZ, Zhang FR, Liu J, Tian HQ, Yu L. New compound heterozygous mutations in a Chinese family with lipoid proteinosis. Br J Dermatol 2006;155:470-2.
  • Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, Santorelli FM. Lipoid proteinosis: case report and review of the literature. Acta Otorhinolaryngol Ital 2006;26:162-7.
  • Uchida T, Hayashi H, Inaoki M, Miyamoto T, Fujimoto W. A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis. Br J Dermatol 2007;156:152-7.