Two genetic mechanisms that can result in<unk> <unk>  is caused by a loss-of-function mutation in the ABCA12 gene. This gene is important in the regulation of protein synthesis for the development of the skin layer. Mutations in the gene cause impaired transport of lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development. Less severe mutations result in a collodion membrane and congenital ichthyosiform erythroderma-like presentation. ABCA12 is an ATP-binding cassette transporter (ABC transporter), which are members of a large family of proteins that hydrolyze ATP to transport cargo across cell membranes. ABCA12 is thought to be a lipid transporter in keratinocytes necessary for lipid transport into lamellar granules during the formation of the lipid barrier in the skin.
Harlequin-type ichthyosis
Harlequin-type ichthyosis  Harlequin-type ichthyosis  1
Abietic acid dermatitis
Keratosis
Papuloerythroderma of Ofuji
X-linked ichthyosis
Ichthyosis acquisita
Yellow nail syndrome