869 Gene editing for ex vivo pachyonychia congenita correction

Treatment of pachyonychia congenita.

There are currently no specific treatments for pachyonychia congenita (PC). Available treatments generally are directed at specific manifestations of the disorder, and an effective treatment plan must recognize that different patients are more or less troubled by different manifestations of the disease. Treatment for all aspects of PC has been less than completely satisfactory. Very few studies...

Pachyonychia Congenita-Associated Alopecia

A 5-year-old female, known case of pachyonychia congenita, presented with diffuse hair loss; remaining hairs were easily plucked kinky hairs. Hair samples from patient were investigated using a light microscope. The hairs of the patients were mainly anagen hairs and unlike normal plucked anagen hairs, showed keratinization and cornification of their hair bulbs. No specific hair shaft abnormalit...

Pachyonychia congenita Authors: Professors

Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails and other ectodermal tissues. It is mainly characterized by gross thickening of all finger and toe nails. Different additional clinical features are observed; they fit into two major types: the Jadassohn-Lewandowsky and the Jackson-Lawler syndrome. The condition is usually transmitted as an autosomal dominant trait, though...

Development of therapeutic siRNAs for pachyonychia congenita.

Pachyonychia congenita (PC) is an autosomal-dominant keratin disorder where the most painful, debilitating aspect is plantar keratoderma. PC is caused by mutations in one of four keratin genes; however, most patients carry K6a mutations. Knockout mouse studies suggest that ablation of one of the several K6 genes can be tolerated owing to compensatory expression of the others. Here, we have deve...

Pachyonychia Congenita in a Toddler