PACHYONYCHIA CONGENITA IN SIX GENERATIONS

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 in a Toddler

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...

Peripheral neuropathic changes in pachyonychia congenita.

We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the ball of the foot (affected skin) and the arch (unaffected) and were compared to biopsies from corres...