has anyone heard of pachyonychia congenita

[carole963]

Has anyone ever heard of this, my son has had this since he was eight....father, grandmother ,aunt and cousin...is there any hope for cure.....its a dermatolgy / genetic issue

[dr_simran]

Hello carole963,

Pachyonychia Congenita is a rare form of hereditary palmoplantar keratoderma. PC results from mutations in the genes encoding epidermal keratinocyte keratins. Specifically the 1A and 1B helical encasing regions of keratins K6a, K6b, K16, and K17 are the most frequent sites of mutations, for example, removal of 1 of 2 adjacent asparagus residues (N170/171) in the 1A encoding region of K6a. The mutation is likely to have a deleterious effect on protein structure as it interferes with the assembly of polypeptides forming the keratin skeleton of epidermal cells. An autosomal dominant mode of inheritance is observed in most cases of PC, but sporadic cases do occur. An autosomal recessive mode of inheritance has also been mentioned.
Currently, no ideal treatment for the thickened nail plate is available, although a few therapeutic options have been suggested.
The thickened nail plate can be softened by using 20% salicylic acid ointment or 20-40% urea and 10% salicylic acid in an emulsifying ointment with occlusive dressings. After the nail plate is softened, it can be mechanically abraded, which is sometimes performed by patients even without softening. This abrasion may be followed by additional softening of the nail plate. A 5% 5-fluorouracil cream can be applied twice daily. 5-Fluorouracil cream can be applied after thinning or abrasion of the nail plate to suppress the hyperproliferative activity of the nail matrix. Systemic treatment with retinoids (acitretin, retinoic acid) in a daily dose of 1 mg/kg is partially effective; the nail plate becomes thinner and its surface becomes smoother.
The affected nails can be removed under local or general anesthesia; however, unless the nail matrix is partially removed, nails regrow. After a complete removal of the nail matrix, a disfiguring anonychia may result.


Best

[VALENTINE14]

Hi Carole,
I recently went on a cruise with my step daughter Diane who is now 44.  We believe she has had Pachyonychia Congenita from birth, along with her birth mother, grandmother and great grandfather.  One of her brothers has it, as well as his three children, and the other brother does not have this condition.  I guess spending time with Diane on the cruise made us all more aware of her condition and we once again determined to put a name to her painful disability.  That is when I found www.pachyonychia.org on the web.  If you haven't already discovered this site, take a look.  Diane said that when she read some of "Jan's Pages", it was like she had written it!  On that web site you will also see that there will be a big meeting in March, 2009 in San Francisco.

We are also in the process of gathering Diane's medical history to be sent to UC Davis School of Medicine, Department of Dermatology.  We don't know if they have any clinical trials at the moment that Diane could participate in, but it's worth a try to see what they have to say.  I guess that having put a name to her condition and seeing that she's not alone in her painful world is giving us all hope for improved pain management and eventually a cure.  
Best Wishes!
Ruth