Current and novel approaches for genetic skin disorders

More than 1,000 genetic skin disorders have been described. Some, such as Harlequin ichthyosis, are life-threatening, and many genetic skin disorders are associated with severe morbidity, putting tremendous strain on the affected individuals and their families. The management of many of these conditions remains symptomatic and conservative, with little to offer in terms of disease-modifying therapies. With the advent of modern molecular technologies, however, our understanding of the pathomechanisms of many genodermatoses is rapidly increasing and with tremendous translational therapeutic potential. In this new era of translational medicine, we are now facing different obstacles associated with the development of novel therapeutics for genetic skin disorders. In this chapter, we present an overview of some current and novel therapies of several genodermatoses including CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defect) syndrome, Netherton syndrome, nevoid basal cell carcinoma syndrome, pachyonychia congenita, and tuberous sclerosis, based on new and emerging molecular discoveries. Some are already in clinical trials, while others, such as the use of recombinant ectodysplasin in hypohidrotic ectodermal dysplasia, have shown benefit in animal models of the disease and therefore provide proof of concept that they may work in humans.