Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes

Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.

Palmoplantar keratoderma (PPK) are debilitating lesions that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associated molecular patterns and skin barrier regulators. The defining features of PC-associated PPK are reproduced in mice null for keratin 16 (Krt16), which is commonly mutated in PC patients. Here, we have shown that PPK onset is preceded by o...

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...

Pachyonychia Congenita in a Toddler