Polyamines (PAs) are essential organic polycations for cell viability along the whole
phylogenetic scale. In mammals, they are involved in the most important physiological …

Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the
formation and normal functioning of a lipid barrier, lead to the development of autosomal …

Autosomal recessive congenital ichthyosis (ARCI) is a diverse group of cornification
diseases associated with severe clinical complications and decreased quality of life …

We aimed to detect the pathogenic gene mutations in a patient with lamellar ichthyosis (LI).
The genomic DNA of the patient was examined using high-throughput whole-exome …

Background: Congenital ichthyoses are a rare Mendelian group of disorders affecting the
integument with a heterogeneous clinical presentation amongst which scaling is a constant …

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases
caused by mutations in at least ten genes. ARCI is characterized by varying degrees of …

Congenital skin disorders refer to the inherited cutaneous abnormalities, which are present
in patients at birth. Epidermolysis Bullosa (EB) and Congenital Ichthyosis (CI) are two …

Pediatric dermatopathology includes a range of diseases, particularly inflammatory and
genodermatosis, that pathologists may not be entirely familiar with. Furthermore, children …