ABCA12: adenosine triphosphate binding cassette A12 HI: harlequin ichthyosis NICU: neonatal intensive care unit INTRODUCTION Harlequin ichthyosis (HI) is a rare autosomal recessive congenital ichthyosis associated with mutations in the keratinocyte lipid transporter adenosine triphosphate binding cassette A12 (ABCA12), leading to disruption in lipid and protease transport into lamellar granules...

Keratitis-ichthyosis-deafness syndrome is a rare genodermatosis, which has recently been connected with mutations in the connexin-26 gene, GJB2. We present a 15-year-old boy with erythroderma, hyperkeratotic plaques and deafness. Sequencing analysis showed a heterozygous missense mutation D50N (148G>A) in GJB2. The boy has not yet manifested characteristic eye lesions but his case shows that ta...

Antarctic macroalgal communities of the upper intertidal zone are particularly poor compared with other coastal regions. Exposure to desiccation and freezing combined abrasive effect ice threatens life sessile organisms. One few species able colonize this environment is rhodophyte Pyropia endiviifolia. It belongs Bangiales, one oldest extant clades photosynthetic eukaryotes, which has occurred ...

A retrospective study was performed on potbellied pigs with skin disease over a 22-year period. Thirteen of 190 pigs (7%) were examined by the Dermatology Service. Three different dermatoses were diagnosed: (1) sarcoptic mange, (2) yeast dermatitis of the eyelids (blepharitis) and periocular skin, and (3) presumed ichthyosis. Sarcoptic mange was cured with ivermectin injections. Yeast dermatiti...

ABCA12 is a member of the large superfamily of ATP-binding cassette (ABC) transporters, which bind and hydrolyze ATP to transport various molecules across limiting membranes or into vesicles. The ABCA subfamily members are thought to be lipid transporters. ABCA12 is a keratinocyte transmembrane lipid transporter protein associated with the transport of lipids in lamellar granules to the apical ...