Cione MA, Olivares LM, Forero OL, Sánchez SAP, Maronna E

Language: Spanish
References: 6
Page: 206-208
PDF size: 337.55 Kb.

ABSTRACT

Lipoidoproteinosis (LiP) is a rare autosomal recessive disorder characterized by the infiltration of hyaline material, PAS-positive, diastase-resistant in the skin, mucous membranes and internal organs. About 300 cases have been reported in the medical literature. We present the case of a patient with histopathologic diagnosis of lipoid proteinosis with clinical signs slightly evocative of this entity and cutaneous lesions only.

REFERENCES

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2. Ruiz VR et al. Milium coloide: a propósito de dos observaciones. Actas Dermosifiliogr. 2002; 93: 42-44.

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4. Hamada T, McLean WH, Ramsay M, Ashton GH 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.

5. Hamada T, Wessagowit V, South AP, Ashton GH et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol. 2003; 120: 345-350.

6. Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H et al. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol. 2004; 151: 413-423.