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Pachyonychia congenita

What is it?

The pachyonychia congenita (PC) is an ultra rare genetic skin disorder caused by a single mutation in any of the four genes known to be responsible for keratin formation: K6a, K6b, K16 or K17.

The disease may be hereditary (inherited from the mother who has PC) or can occur spontaneously, due to a genetic mutation during the formation of the embryo.

It affects men and women and the most common manifestation, the thickening of the nails, is noted from birth.

Characteristics and symptoms

Characteristic features of PC may include:

  • Thickened and deformed nails, with a brownish color, which get elevated (hence the name of the disease: pachyonychia);

  • Formation of thick calluses on the soles of feet and/or palms (palmar and plantar hyperkeratosis), usually on pressure points or diffuse in some cases. They may develop blisters, most often in children. These lesions are painful which causes difficulty to walk;

  • bumps around the hair follicles (follicular hyperkeratosis) at friction areas such as waist, hips, knees and elbows;
  • whitish plaques on the mucosa of the cheeks, tongue and, sometimes, larynx;

  • formation of cystic lesions of various types (including steatocystoma and pilosebaceous cysts).

Other features that may be present are: sores at the corners of the mouth, presence of teeth at pre-natal stage or at birth, and hoarse voice due to involvement of the larynx.

Treatment

The surgical correction of nail changes may be attempted as palliative treatments for calluses of the feet and hands, in order to decrease its size and pain caused by walking.

Retinoids (drugs derived from vitamin A) are a therapeutic option that may help in some cases.

Pachyonichya Congenita Project

The organization Pachyonichya Congenita Project, studies the disease searching for a heal and has over 700 registered patients.

At the organization's website - www.pachyonychia.org - if the patient wishes to register on the IPCRR (International PC Research Registry), even being from other countries, he/she will be entitled to undergo genetic testing for free, to be funded by PC Project.

With the registration in IPCRR and confirmation of diagnosis through genetic testing, the patient will be entitled to other benefits such as provision of drugs, participation in preliminary tests, medical advice, etc..

Related articles

- Xeroderma pigmentosum
- Keratosis pilaris


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