A Glimmer Of Hope...


I am 62 years old and have had steatocystoma multiplex most of my life.  I can tell you that it seemed to get worse when my hormones were raging in my younger days or when I was under tremendous stress in my life.  Now that I'm older, it is lessening.  My father told me it would.  I have been searching for a cure or at least someone to show some interest in this disease for years.  Recently I found something on the internet. Steatocystoma Multiplex is one symptom of another disease call Pachyonychia Congenita.  There is a website that states:

What is Pachyonychia Congenita?
PC is an ultra rare genetic skin disorder caused by a single mutation in one of at least four keratin genes including K6a, K6b, K16 or K17. PC may be hereditary (inherited from a parent who has PC) or may be spontaneous (a mutation occuring when no parent or other family member has PC). Features of PC may include:

1 Painful blisters and calluses on hands and feet (focal palmar and plantar hyperkeratosis)

2 Thickened Nails (hypertrophic nail dystrophy or pachy-onychia)

3 Follicular hyperkeratosis (bumps around hairs at friction sites such as waist, hips, knees, elbows)

4 Leukokeratosis of the oral mucosa (white film on tongue, cheeks and sometimes larynx)

5 Cysts of various types (including steatocystoma and pilosebaceous cysts)

Other features include sores at the corner of the mouth (angular chelitis); teeth at or before birth (natal or pre-natal teeth); hoarse voice (laryngeal involvement). Note: Some with PC often suffer intense pain near the jaw or ears lasting 15-25 seconds when beginning to eat. This may be connected to salivary glands rather than to ears. More research is needed on this.

The website is:  http://www.pachyonychia.org/index1.php?rd=no

On the website there is a questionaire and a consent form.  I filled them out, sent them in and heard from the PC Project right away.  I had a phone interview with a doctor at Stanford and they sent me information and some containers to have a few cysts excised and mailed in for research.  I'm going this week to have it done.  They also said I will be getting genetic testing to make sure I have the disease.  It won’t cost me anything.  I don't have all the symptoms listed above, but if I don't have PC, I surely have a form of it.

It may be worth your while to fill out the questionaire and get tested.  Finally, someone is doing some research on this. The more people we can get tested, the more chance they will continue research on this.   Maybe there is hope for the future.  I understand your pain and I wish you all the best.

 

 


joeyw1949 joeyw1949
61-65
1 Response May 22, 2012

Hi Joey, I know its been 3 years since you posted this so hopefully you see this! I was just wondering if you had any follow up information!

Thanks

Go to http://www.pachyonychia.org/ to learn what they have been doing. You can get genetically tested to see if you have PC. There is no cure yet, but you can learn what others are doing. Good Luck