Patients have much to teach us about the conditions they live with. In each issue of FOP Link, we take the opportunity to have a person living with FOP share about the comorbidities they experience. Then a doctor, who is an FOP expert, shares from the FOP Treatment Guidelines about the proper way to care for a patient experiencing the symptoms or condition.

A Patient Perspective

Sharon is a 56-year-old woman who lives with FOP in the United States. Here she shares her experiences with FOP and skin issues. 

I first met Dr. Patricia Delai at an FOP meeting in Philadelphia in 2000, shortly after she had diagnosed her first FOP patient. In the years since then, her unique position as a dermatologist and FOP specialist has been very helpful to me and the FOP community. 

I have a local dermatologist because I have a skin disorder called seborrheic dermatitis, which makes my skin itchy, flaky, and scaly, especially on my scalp and face—areas that can produce a lot of sebum/oil. Because of this, I’m extremely careful about the products I use on my skin, avoiding ingredients that cause irritation and concentrating on products that help manage the symptoms. While having this chronic condition is frustrating, I appreciate Dr. Delai’s continued interest in trying to learn whether people with FOP may be more likely to have this condition, as well as other ways in which FOP may affect the skin. 

Dr. Delai also helped me get a diagnosis for a strange situation. The skin on one of my lower legs developed purple spots that gradually grew to cover a bigger area over time, and included the development of blisters. The curious thing was that my skin color in this area returns to normal when I lie down and is purple when I sit in my wheelchair or stand. Originally, we were only able to determine through testing of my circulation that my circulatory system worked well. She kept looking and discovered that I had an uncommon skin condition called Pseudo-Kaposi sarcoma (also known as acroangiodermatitis), which causes the same symptoms I have. It is related to microcirculation problems and, in my case, occurred likely because of immobility in that leg. She has since discovered other people with FOP who seem to have the same problem. Like FOP, there isn’t much I can do about it (perhaps some compression socks may have helped in the early stages, and moisturizing is important), but at least I know what I am dealing with and that it is dermatological in nature.

An FOP Expert's Perspective

Patricia Delai, MD, Hospital Israelita Albert Einstein, Brazil 
Dermatologist, Member of the International Clinical Council on FOP

The skin is both a diagnostic window and a critical area of management in FOP. 

While the musculoskeletal implications of FOP are well known, the role and relevance of skin in FOP diagnosis and management are often overlooked.

Dermatologic issues in FOP fall into four main categories:

1. Changes possibly linked to the ACVR1 mutation

2. Those caused by immobility and altered body posture

3. Medication-related conditions

4. Individual, environmental, or genetic factors

We still do not know for sure what may be linked to the ACVR1 mutation, but observation of FOP patients showed a higher frequency of seborrheic dermatitis, acne, hair loss, and madarosis (loss of eyebrows or eyelashes) and hyperidrosis (excessive sweating). Ingrown toenails, particularly of the great toe, need preventive care and are frequent due to toe malformations, retinoid therapy, and tight footwear. A large number of intensely pigmented and irregular nevi were also observed. 

FOP flare-ups are also presented on the skin, with redness, warmth, and tenderness.

High importance must be given to skin problems that appear as a consequence of FOP because of immobility or poor blood circulation:

• Patients with FOP may present dry skin and loss of body hair due to the bad skin circulation.
• Pressure ulcers are common and can occur where heterotopic (extra) bone compresses soft tissues, leading to ischemia and ulceration. These wounds are difficult to treat and may become infected.
• Infections, particularly in inaccessible folds or pressure areas, can rapidly spread and lead to sepsis and death—a recognized cause of mortality in FOP. Prevention using cushioning, hygiene, and early treatment is essential.

Lymphedema can lead to the loss of adherence between skin cells and the development of blisters, not only on the limbs but anywhere on the body. Close evaluation and care of these lesions will avoid infections and danger.

The body posture imposed by heterotopic bones can create folds on the body, and these must be kept clean and dry to avoid the presence of fungus and bacteria.

Medication-related skin issues are also very frequent in FOP patients. The high use of anti-inflammatory drugs and analgesics can lead to a large number of drug-induced eruptions that include acne, dryness, hives, and delayed wound healing (particularly from steroids and clinical trial medications).

Routine skin care, avoidance of trauma, and prompt attention to any wound or rash are critical. Skin integrity is not cosmetic—it is lifesaving. Dermatologic vigilance can help prevent serious complications and improve the life and outcomes in FOP.

The FOP Treatment Guidelines

You can learn more about this important topic and other aspects of FOP management by reviewing the ICC's FOP Treatment Guidelines. See Section 5: Special Medical Considerations in FOP (5-15 and 5-16).

Other Resources

More resources on FOP and Skin Health are available at ifopa.org/skin_health