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Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event
Author(s) -
Lacz Nicole L.,
Schwartz Robert A.,
Kihiczak George
Publication year - 2005
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4632.2004.02364.x
Subject(s) - epidermolytic hyperkeratosis , hyperkeratosis , medicine , dermatology , penetrance , dyskeratosis , erythema , keratin , palmoplantar keratoderma , pathology , phenotype , ichthyosis , genetics , gene , biology
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.