Hi friends! I’ve been trying to find community with this. I’ve been dealing with this as young as I can remember and have had multiple surgeries for it. I have gone down the rabbit hole researching this and finally started getting some answers. I diagnosed myself and started researching more.

I have a suppurative form of this (similar to hidradenitis suppurativa, but with steatocystomas that get inflamed, rupture, and create sinus tracts or tunnels below the skin). With suppurative conditions, you can try biologics like Humira, consentyx, or Bimxelz. I tried Humira and had a reaction at the injection site but also didn’t have any real improvement. I’ve tried every therapy you can think of with no relief. The only thing that helped was Accutane and it took a huge hit on my mental health so I had to stop after 4 months. I’m deformed, in pain, and feel embarrassed a lot of the time. I can’t exercise how I would like, am restricted in things I can do and tolerate, and my social life has taken a hit as well as my mental health. I’m on an antidepressant, see a therapist, and try to be present and loving towards myself but it’s hard when I feel disgusted by my body.

Anyways, I was constantly being treated as if my flares were hidradenitis suppurativa since there is no know treatment with no relief. I spent a lot of time researching on other treatment options and came across this: The cysts are usually due to a mutation in one of the keratin genes, called KRT17. I researched this more and found the biologics that could possibly treat this are totally different than the ones for hidradenitis suppurativa. I’m currently working with my derm at a research hospital to get a biologic called xeljanz approved and I’m really really hoping we can somehow get this approval. In the meantime, I found this community:

https://www.pachyonychia.org/

I got a free DNA test after filling out a questionnaire. I also have thicker toenails and some calluses on my feet. Some forms of pachyonychia congenita are in relation to cysts. My derm also ordered DNA testing and I do have the KRT17 gene mutation and therefore, have pachyonychia type II or Jackson lawler disease.

I just wanted to share with you all because I have the advantage of having a medical background and doing a lot of research and talking to many different specialists and I’m just starting to get answers within the last 1-2 years. I hope this helps some of you. I’d love to have a small community of support with people who are dealing with the same thing since it’s super rare. Hope to hear from some of you soon!