Disorders of Keratinization
November 2014
TLDR The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
The chapter discussed a range of skin disorders characterized by abnormalities in keratinization, collectively referred to as Mendelian disorders of cornification (MEDOC). It highlighted the complexity of the genetics involved in ichthyoses, noting that there are 36 known inherited forms, some of which are common skin conditions and others that are rare syndromic disorders affecting multiple organs. The text reviewed prevalent types of ichthyoses, such as ichthyosis vulgaris, recessive X-linked ichthyosis, and autosomal recessive congenital ichthyoses, which include lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. Additionally, the chapter covered other keratinization disorders like keratosis pilaris, keratosis follicularis, and palmoplantar keratoderma.
