"Free-Floating" Desmosomes in Lipoid Proteinosis: An Inherent Defect in Keratinocyte Adhesion?

:  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 unde...

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Bibliographic Details
Published in:Pediatric dermatology 2006-01, Vol.23 (1), p.1-6
Main Authors: Dyer, Jon A., Yu, Qian-Chun, Paller, Amy S.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biopsy, Needle
Cell Adhesion - genetics
Cell Adhesion - physiology
Child
Dermatology
Desmosomes - genetics
Disease Progression
Female
Humans
Immunohistochemistry
Keratinocytes - pathology
Keratinocytes - ultrastructure
Lipoid Proteinosis of Urbach and Wiethe - diagnosis
Lipoid Proteinosis of Urbach and Wiethe - pathology
Medical sciences
Prognosis
Rare Diseases
Risk Assessment
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Summary::  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).
ISSN:0736-8046
1525-1470
DOI:10.1111/j.1525-1470.2006.00159.x