The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can
be inherited or acquired, and result in defective keratinocyte differentiation and abnormal …

Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent
years, new advances in understanding the pathophysiology of ichthyosis have been made …

These guidelines for the management of congenital ichthyoses have been developed by a
multidisciplinary group of European experts following a systematic review of the current …

These guidelines for the management of congenital ichthyoses have been developed by a
multidisciplinary group of European experts following a systematic review of the current …

Background Ichthyoses are a group of rare skin disorders lacking effective treatments.
Although genetic mutations are progressively delineated, comprehensive molecular …

Background The acute hepatic porphyrias (AHPs) are rare inborn errors of heme
biosynthesis, characterized clinically by life-threatening acute neurovisceral attacks. Patients …

Preliminary work suggested upregulation of inflammatory pathways in patients with common
forms of ichthyosis. However, a comprehensive characterization of skin from various …

Background Since the beginning of human genetic research, there are very few publications
sharing insights of the negative impact of rare genetic skin diseases (RGSD) on patients' …

Background The ichthyoses comprise a group of inherited disorders of keratinization.
Because of the need for lifelong treatment, it is important that therapies are beneficial, safe …

Skin disease is highly prevalent in the United States, and it has been well-documented that
patients with skin disease experience financial, psychological, social, and quality-of-life …