Lipoid proteinosis pathology

Author: Assoc Prof Patrick Emanuel, Dermatopathologist, Auckland, New Zealand, 2013.


Lipoid proteinosis is a rare autosomal recessive disease caused by mutations in the extracellular matrix protein 1 gene (ECM1).

Histology of lipoid proteinosis

In lipoid proteinosis, sections show deposition of an eosinophilic homogenous material in the dermis (figures 1, 2). The overlying epidermis may be papillomatous (figure 1). The material surrounds blood vessels and adnexa (figure 2).

Lipoid proteinosis pathology

Special studies for lipoid proteinosis

The eosinophilic material is strongly positive with PAS and weakly positive or negative for congo red and thioflavine-T.

Differential diagnosis of lipoid proteinosis pathology

Colloid milium and amyloidosis – Both these conditions show accumulation of a similar eosinophilic material. These should both be congo red positive. Clinical history can be helpful to exclude colloid milium. Immunohistochemical studies for keratin and other amyloid-associated proteins can be helpful if amyloidosis is suspected.

 

Related Information

References:

  • Pathology of the Skin (Fourth edition, 2012). McKee PH, J. Calonje JE, Granter SR

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