A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers

March 2004 in “ Journal of Comparative Pathology ”

K.F. Barnhart, Kelly M. Credille, Andy Ambrus, Robert W. Dunstan

This study described a heritable keratinization defect in seven related Norfolk terrier dogs, characterized by mild cornification issues present at birth. The condition was suggested to follow an autosomal recessive inheritance pattern. Affected dogs exhibited hyperpigmented skin with scaling and blister formation following mild trauma, particularly in areas with less hair protection. Histological analysis revealed vacuolation in the upper epidermis, leading to epidermolysis, and ultrastructural changes such as abnormal keratin filament clumping. Immunohistochemical analysis indicated a lack of keratin 10 expression in the superficial epidermis, suggesting a defect in K10 synthesis as the likely cause. The clinical signs resembled those of ichthyosis bullosa of Siemens (IBS), a condition associated with defects in keratin synthesis.

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Research cited in this study

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research Epithelial Barrier Function: Assembly and Structural Features of the Cornified Cell Envelope

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The cornified cell envelope forms a protective barrier in skin and hair, using specific proteins and lipids to maintain effectiveness.

research ‘Hard’ and ‘soft’ principles defining the structure, function and regulation of keratin intermediate filaments

686 citations , February 2002 in “Current Opinion in Cell Biology”

This review explored the structure, function, and regulation of keratin intermediate filaments (IFs), highlighting both established ('hard') and emerging ('soft') principles. It discussed the discovery of novel keratin genes, the mechanics of keratin filaments, and the functional redundancy revealed by gene knockouts. The study also examined the role of keratin mutations in various diseases and the regulation of keratin through interactions with other proteins. The field was noted to be rapidly advancing, driven by transgenic models and new insights into keratin's protective roles in cellular stress responses.

research Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development

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The study examined the expression of keratin K14 in human skin, particularly in the epidermis and hair follicles, using monospecific antisera and cRNA probes. It was found that K14 expression and filament organization differed significantly between the hair follicle and epidermis. In the outer root sheath (ORS) cells, which are mitotically active, K14 expression was low, and keratin filaments were fewer and more loosely organized compared to basal epidermal cells. As ORS cells differentiated, they increased K14 expression and formed denser keratin bundles. In contrast, matrix cells, which can differentiate into the inner root sheath, cuticle, and hair shaft, did not express K14 or form keratin filaments. Instead, they produced hair-specific keratins and dense filament bundles without inducing K14 expression. The study suggested that the patterns of K14 expression and filament organization in skin epithelial cells were linked to their pluripotency and highlighted the distinct differentiation programs of hair follicles compared to other stratified squamous epithelia.