How does pachyonychia congenita affect a person?

How does pachyonychia congenita affect a person?

Almost everyone with pachyonychia congenita shows some signs of hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. Most affected children also develop very painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands.

What causes pachyonychia congenita?

Pachyonychia congenita is caused by a mutation in one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16 or KRT17. These mutations are inherited in an autosomal dominant manner, although approximately 30-40% of cases are the result of new spontaneous mutations with no previous family history.

Is pachyonychia congenita a genetic disorder?

Pachyonychia Congenita (PC) is an ultra-rare genetic autosomal dominant skin disorder. PC is caused by a mutation in one of five keratin genes KRT6A, KRT6B, KRT6C, KRT16 or KRT17.

How is pachyonychia congenita passed down?

Pachyonychia congenita is autosomal dominantly inherited. That means the defective gene comes from one parent. An affected person with an autosomal dominant disorder has a 50% chance of passing on the disease to his or her offspring at each pregnancy.

Is Pachyonychia congenita a disability?

PC Project has helped PCers in several countries obtain disability status, which can mean income assistance, childcare assistance, and other benefits as needed. This is very difficult to achieve — as PC is not on the short list of approved disorders — and is determined on a case-by-case basis.

What causes Soto syndrome?

Sotos syndrome is caused by mutations (abnormalities) in the NSD1 (nuclear receptor-binding SET domain protein 1) gene. Mutations in this gene have been identified in approximately 90% of affected patients (Sotos syndrome 1).

Is Pachyonychia congenita curable?

Like most genodermatoses, no specific treatment or cure is known for pachyonychia congenita. Therapy is generally directed towards symptomatically improving the most bothersome manifestations of the disease and, because of the rarity of pachyonychia congenita, is based largely on anecdotal findings.

Is pachyonychia congenita contagious?

IS PC CONTAGIOUS? No. PC is not contaigious. You cannot ‘catch’ PC.

Is Soto syndrome a disability?

Sotos syndrome is a genetic disorder, described in 1964, characterized by excessive growth before and after birth, a large, elongated (dolichocephalic) head, distinctive facial configuration, and a non-progressive neurological disorder with intellectual disability.