ro is the acquisition of protective barrier function in the skin a process involving differentiation of keratinocytes to form a stratum corneum of unique lipid composition and structure. Harlequin Ichthyosis (HI) is a severe hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein and which results in profound barrier defects. In keratinocytes ABCA12 is thought to regulat...

Harlequin ichthyosis is one of the most severe congenital skin cornification disorders with an incidence rate of about 1 in 300000 births and characteristic clinical features. We report two cases of harlequin ichthyosis (HI) or harlequin fetus (HF), which were products of consanguineous union. Clinical examination showed typical features of harlequin ichthyosis, with the presence of plaques wit...

INTRODUCTION Ichthyosis is a group of keratinizing diseases characterized by scaly and dry skin. One of the ocular complications associated with ichthyosis is cicatricial ectropion which often results in exposure keratopathy and eventually corneal scarring. PRESENTATION OF CASE In this report we are presenting a 21-year-old female who is known to have ichthyosis-related bilateral lower lid ci...

Ichthyosis is a broad and loosely defined group of hereditary and acquired disorders characterized by filaggrin dysfunction and impaired epidermal homeostasis that results in dry, scaly and thickened skin. Individuals with truncation mutations in the profilaggrin gene coding for filaggrin are strongly predisposed to severe forms of ichthyosis. The phenotypical expression of ichthyosis caused by...

Harlequin ichthyosis is a rare and exceedingly severe form of congenital ichthyosis with an incidence of approximately 1 in 300,000 births. These patients are at a high risk for neonatalinfection and septicemia. Most affected infants die within the  first days or weeks of life.We report a male baby born with harlequin ichthyosis. There is limited information regarding the course and...

Ichthyosis is a heterogeneous cluster of keratinization disorders. Autosomal dominant ichthyosis vulgaris, the most common type, has an estimated incidence of 1 in 250 births, and X-linked recessive ichthyosis, the second most common form, has an incidence of 1 in 6000 male births. In addition, there are approximately 6.7 in 100,000 cases of moderate-to-severe ichthyosis. Congenital ichthyoses ...

The family of protein kinase C (PKC) isoenzymes plays a fundamental part in signal transduction, and thereby regulates important cellular functions, including growth, differentiation, cytokine production and adhesion molecule expression. In lesional psoriatic skin, Ca(2+)-dependent PKC activity, PKC-beta protein and epidermal Langerhans cell (LC) PKC-beta immunostaining are significantly decrea...

Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if int...