"Free-floating" desmosomes in lipoid proteinosis: An inherent defect in keratinocyte adhesion?

Jon A. Dyer, Qian Chun Yu, Amy S. Paller*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


The classic features of lipoid proteinosis - beadlike papules and hoarseness - result from the accumulation of hyaline material in the mucocutaneous dermis. However, the characteristic manifestation in children - erosive, crusted lesions that lead to scarring - is rarely discussed and poorly understood. Lipoid proteinosis results from mutations in extracellular matrix protein 1, but the function of this protein is largely unknown. We performed ultrastructural studies on lesional epidermis, cultured monolayer keratinocytes, and raft keratinocyte cultures from blistering lesions of a child with lipoid proteinosis. All sections showed the dissociation of relatively intact desmosomes from keratinocytes, with desmosomes that were "free- floating" in the intercellular spaces or attached by thin strands to the cell membrane. These changes were present in serial sections of both tissue and cultured keratinocytes, suggesting this observation to be an inherent feature of keratinocytes devoid of extracellular matrix protein 1, rather than an artifact. Although additional patients should be studied, the diminished appearance of the inner dense plaque - the region of attachment of keratin intermediate filaments to desmosomal proteins - provides preliminary evidence that extracellular matrix protein 1 may participate in attaching keratin intermediate filaments to desmosomal region protein(s).

Original languageEnglish (US)
Pages (from-to)1-6
Number of pages6
JournalPediatric dermatology
Issue number1
StatePublished - Jan 2006

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health


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