Progressive hemifacial atrophy

What causes progressive hemifacial atrophy?

The cause of progressive hemifacial atrophy is unknown. Due to its similarity to localized, it has been considered as an autoimmune disorder. Other causes or triggers that have being suggested include:

Last updated on 05-01-20

How is progressive hemifacial atrophy diagnosed?

There is no specific test to diagnose progressive hemifacial atrophy, so the initial diagnosis can be difficult, often taking years. It is usually suspected because of the characteristic atrophy affecting tissues of the face. Diagnosis may include a medical examination, a full medical history, magnetic resonance imaging (MRI), removal of a tissue sample to study in the laboratory (biopsy), and/or and ruling out other causes.

Last updated on 05-01-20

Is progressive hemifacial atrophy inherited?

Most cases of progressive hemifacial atrophy are sporadic, which means they occur in people with no family history of the condition. However, in rare cases, more than one family member is affected. No clear pattern of inheritance in these cases has been seen. Research into the cause of progressive hemifacial atrophy, including any possible genetic predisposition, is ongoing.

Last updated on 05-01-20

What other resources may help me explore my question further?

Nonprofit support and advocacy groups can offer a way to connect to others who may have similar experiences Information gathered from affected members of different groups has sometimes changed the direction of research by bringing to light commonalities that were missed because few physicians actually saw many affected people with the condition or did not ask the right questions to make the discovery.

In addition, members of the Medical Advisory Boards may be aware of unpublished information and private ongoing research or may become interested in pursuing a research interest brought to their attention by the affected members of a group. The following groups are focused on those affected by progressive hemifacial atrophy, but for more possibilities please see the Organization section. Please note that the GARD Information Center provides the names of organizations for informational purposes only and not as an endorsement of services.

Parry-Romberg Syndrome Resource, Inc.
4815 Crystal River Ct.
Indianapolis, IN 46240
Telephone: +1-317-566-8149
E-mail: prsresource@comcast.net
Website: http://www.prsresource.com

The Romberg Connection
E-mail: rombergs@hotmail.com
Website: http://www.therombergsconnection.com

Last updated on 05-01-20

How can I find physicians who are knowledgeable about progressive hemifacial atrophy?

The Romberg's Connection has a list of doctors who are knowledgeable about progressive hemifacial atrophy. We encourage you to contact this group for more information about this service.

The Romberg’s Connection
Email: rombergs@hotmail.com
Web site: http://www.therombergsconnection.com/

The World Craniofacial Foundation maintians a list of craniofacial centers. Click here to access a listing of sites where these clinics are located.

Last updated on 05-01-20

Can progressive hemifacial atrophy be triggered by pregnancy?

While the cause of progressive hemifacial atrophy is unknown, medical researchers believe there are many different causes. However, in the available recently published medical studies and reviews, pregnancy is not listed among the proposed causes.

We were able to find only one published case reporting progressive hemifacial atrophy beginning in a woman during pregnancy. Since the cause of progressive hemifacial atrophy is still not well understood and the condition is rare, it would be too early to state that there is not a connection. For instance though you developed progressive hemifacial atrophy while you were pregnant, your doctor did not publish the case, so it is difficult to predict how often this has occurred.

Last updated on 05-01-20

Could progressive hemifacial atrophy be related to polycystic ovarian syndrome and insulin resistance?

We were not able to find any published medical case reports or studies linking polycystic ovarian syndrome and/or insulin resistance with progressive hemifacial atrophy. This however does not mean that there is no connection, just that at present, such a connection has either not been noticed or published.

Last updated on 05-01-20

Is there treatment for hair loss associated with progressive hemifacial atrophy?

We are not aware of any studies that have investigated treatment for hair loss associated with progressive hemifacial atrophy (PHA), and no treatment guidelines exist. There is one case report (on an individual patient) that describes application of botulinum toxin (Botox) for pain relief in a person with PHA, which reportedly improved hair growth over the injection regions. However, one case report does not enable researchers to generalize the findings or establish that something is safe and effective for others.

Many researchers believe that PHA and a type of linear scleroderma called en coup de sabre (ECDS) are both manifestations of localized scleroderma. PHA and ECDS often coexist in one person. Hair loss (alopecia) is a feature of ECDS, and some scientists believe that the presence of alopecia may be used to distinguish (if desired) between ECDS and PHA. ECDS is associated specifically with cicatricial alopecia (also called scarring alopecia). This type of alopecia results from damaged hair follicles that are replaced with scar tissue, causing permanent hair loss. You can read about treatment for cicatricial alopecia on the National Institutes of Health website here.

A hair restoration doctor can evaluate hair loss and recommend an appropriate treatment plan based on the underlying cause and extent of hair loss. Effective treatments for some types of hair loss are available, but in some cases hair loss is permanent. Depending on the cause, options may include medications, surgical procedures, laser therapy, and wigs or hairpieces. You can ask your doctor for a referral to a hair restoration doctor, or you can search for one on the International Society of Hair Restoration Surgery’s website.

Last updated on 05-01-20

What is the long term outlook for people with progressive hemifacial atrophy?

Progressive hemifacial atrophy is a slowly progressive, self-limiting condition. However, the type and severity of symptoms varies greatly. The length of time the disease progresses before it reaches stabilization also varies greatly.

While most sources state the course of the disease will stabilize in 2-10 years, the most recent review suggests 2-20 years. The condition may be less severe when it begins in adulthood than in younger ages, probably due to the complete development of craniofacial and nervous structures. To our knowledge, recurrence in the same person after the condition has stabilized has not been reported in the medical literature.

Progressive hemifacial atrophy can have a significant psychological and social impact on a person, depending on the severity, progression, age of onset, and success of cosmetic repair.

Last updated on 05-01-20

How common is progressive hemifacial atrophy?

The number of people affected by progressive hemifacial atrophy is not well- established, but the prevalence is estimated to be about 1 in 700,000. The condition appears to affect females more frequently than males.

Last updated on 05-01-20

How might progressive hemifacial atrophy be treated?

Currently there is no treatment to stop the progression of progressive hemifacial atrophy, but various treatments have been tried. Because it is very similar to linear scleroderma treatment is also similar, and may include:

Hemicranial pain syndrome (can be in form of migraine or continuous severe headache, but on one side of the head) has been treated successfully by repetitive local botulinum toxin A injections. Treatment of the eye and nerve involvement may include the use of some medications, such as steroids, and surgical procedures, depending on the specific problem.

Progressive hemifacial atrophy stops progressing on its own within 2 to 20 years, which makes it hard to decide if a therapy is successful. After the condition does stabilize, reconstructive surgery can be done to restore the fat tissue that is lost with the disease and, therefore, recover the natural shape of the face, and treat the sunken eye (enophthalmos) and the eyelid retraction.

The following techniques are options for surgical reconstruction:

  • Silicone implants
  • Muscle flap grafts
  • Fat grafts with or without stem cells
  • Bone and cartilage grafts
  • Injections to fill in hollows below the skin such as hyaluronic injection, which may be also improve the enophthalmos and eyelid retraction.

Since multiple systems of the body may be affected, a multidisciplinary team of physicians, surgeons, dentists, and psychologists may be needed to manage the different symptoms.

Last updated on 05-01-20

Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: faces@faces-cranio.org Url: http://www.faces-cranio.org/
Name: Facial Pain Association 22 SE Fifth Ave., Suite D
Gainesville, FL, 32601, United States
Phone: +1-352-384-3600 Toll Free: 1-800-923-3608 Fax : +1-352-384-3606 Email: info@tna-support.org Url: https://fpa-support.org/
Name: American Autoimmune Related Diseases Association (AARDA) 22100 Gratiot Avenue
Eastpointe, MI, 48021, United States
Phone: 586-776-3900 Toll Free: 800-598-4668 Fax : 586-776-3903 Email: aarda@aarda.org Url: https://www.aarda.org/

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