TLDR New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
In 2015, an update on congenital ichthyosis revealed that while the causative genes for many forms were known, there was still no curative treatment available. Recent genetic discoveries included mutations in desmosomal components causing overlapping clinical conditions such as peeling skin disease, and mutations in keratin 10 causing ichthyosis with confetti. The review highlighted the poor research evidence for ichthyosis treatments but noted the addition of N-acetylcysteine to treatment options and the potential of topical enzyme replacement therapy for individuals with TG1 deficiency. The expanding knowledge of phenotypes and genotypes in ichthyoses was improving clinical diagnosis and understanding of epidermal pathophysiology.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
140 citations,
January 2009 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Liposomes improve drug delivery and reduce skin irritation in dermatology.
3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
1 citations,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
41 citations,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
2 citations,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
