PMID: 7525739Nov 1, 1994Paper

Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis

The Journal of Investigative Dermatology
I Anton-Lamprecht

Abstract

The present article discusses specific, directly gene-dependent ultrastructural markers of dominantly inherited epidermal disorders that serve as clues to their underlying molecular genetic abnormalities. These are epidermolysis bullosa simplex Koebner and Weber-Cockayne with rupture or non-assembly of basal cell keratins and point mutations in keratins 5 and 14. Clumping of basal cell keratins is pathognomonic of EB Dowling-Meara and caused by mutations in hot spots of the rod domain of K5 and K 14. Clumps and aggregates of basal keratins occur side by side in the same cell and thus do not indicate specific different types of mutations. Similar clumping of suprabasal keratins in bullous CIE Brocq and in palmoplantar keratoderma Voerner have been assigned to identical types of mutations in the same critical position of the rod domain in K 1, K 10, and K 9, respectively. Highly unusual tubular keratins are pathognomonic of another dominant palmoplantar keratoderma type the genetic basis of which still awaits elucidation. Shell formation of (low molecular weight?) keratins in ichthyosis hystrix Curth-Macklin is not linked to the keratin gene clusters on chromosomes 12 and 17 and might be related to regulatory genes of keratin exp...Continue Reading

Citations

Jan 1, 1996·The British Journal of Dermatology·I Anton-Lamprecht
Oct 18, 2002·Pediatric Dermatology·A ZvulunovH Stevens
Mar 16, 2007·The British Journal of Dermatology·W-H WangX-R Chen
Jun 24, 1999·Journal of Dermatological Science·M F Jonkman

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