pachyonychia congenita , PC (Abkürzung)

Pachyonychia congenita is an autosomal dominant skin disorder.

Pachyonychia congenita is caused by disruptions or changes (mutations) of one of several different genes.

A Unilateral palmoplantar verrucous nevus is a cutaneous condition that has features of pachyonychia congenita.

Some authors propose that steatocystoma multiplex is simply a variant of pachyonychia congenita type 2 because they both share the same underlying etiology.

Mutations in the gene encoding this protein lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex.

Jadassohn-Lewandowsky syndrome: An ectodermal dysplasia characterized by onychogryposis, hyperkeratosis, leukoplakia, hyperhidrosis and pachyonychia congenita.

Mutations in the gene encoding this protein are associated with the genetic skin disorders pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus.

Pachyonychia congenita type II (Jackson-Lawler pachyonychia congenita, Jackson-Sertoli syndrome)

In previous reports, specific mutations were attributed to early-onset cyst formation in pachyonychia congenita type 2 and steatocystoma multiplex; however, more recent reports suggest that the age of onset is multifactorial.

In the familial form of steatocystoma multiplex, mutations are localized to the keratin 17 (K17) gene in areas identical to mutations found in patients with pachyonychia congenita type 2 (PC-2).

Pachyonychia congenita follows an autosomal dominant pattern of inheritance, which means the defective gene is located on an autosome, and only one copy of the gene is required to inherit the disorder from a parent who has the disorder.

Pachyonychia Congenita Type 1 (PC-1) Pachyonychia Congenita Type 2 (PC-2) Pachyonychia congenita is a rare disorder inherited in an autosomal dominant fashion.

Mutations in the gene encoding this protein have been associated with pachyonychia congenita, an inherited disorder of the epithelial tissues in which this keratin is expressed, particularly leading to structural abnormalities of the nails, the epidermis of the palms and soles, and oral epithelia.