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Updated: Aug 20, 2026

Generation and Culturing of Primary Human Keratinocytes from Adult Skin
Published on: December 22, 2017
Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event
Nicole L Lacz1, Robert A Schwartz, George Kihiczak
1Dermatology, UMDNJ-New Jersey Medical School, Newark, New Jersey 07103-2714, USA.
Abstract:
Epidermolytic hyperkeratosis is an unusual type of ichthyosis. This inherited keratinization disorder is characterized clinically by erythema, blistering, and peeling shortly after birth. It may resolve and be replaced with thick scaling. It can lead to life-threatening complications, such as sepsis. Histologically, there is a hyperkeratosis and vacuolar degeneration. Genetically, this is an autosomal dominant disease with complete penetrance; however, 50% are spontaneous mutations. The clinical phenotype is a result of alterations in the gene(s) for keratin 1 and/or 10. We review this disorder and its therapy, which is mainly symptomatic with emollients and retinoids.
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