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 ...

Lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. To date, seven causative genes for ARCI have been identified. To understand further the genetic spectrum of the disease, we analyzed a four-generation Iranian family with ARCI that had observable inheritance. Exome sequencing data for one of the affected individuals with ichthyosis from a consanguineous Iranian family...

BACKGROUND Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma. However, the understanding of the specific consequences of mutations in ST14 on the developme...

OBJECTIVE To determine the molecular basis of familial ichthyosis in three Omani families. SUBJECTS AND METHODS Nine patients from three consanguineous families, A, B, and C, were born with typical features of lamellar ichthyosis subtype including collodion membrane and maintained ectropion, and epidermal scaling through their childhood. The 4 patients from family B had more severe symptoms r...

Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological ph...

A skin permeability barrier is essential for terrestrial animals, and its impairment causes several cutaneous disorders such as ichthyosis and atopic dermatitis. Although acylceramide is an important lipid for the skin permeability barrier, details of its production have yet to be determined, leaving the molecular mechanism of skin permeability barrier formation unclear. Here we identified the ...

Background: Harlequin ichthyosis (HI) is a severe and rare autosomal recessive congenital ichthyosis, characterized by hyperkeratosis, extensive fissuring massive, diamond-shaped scales which limit the child’s movements. The term harlequin comes from baby’s facial expression pattern of like 17th century entertainers, harlequins. underlying genetic abnormality has been identified as mutation in ...