Scleroderma

Fri,Aug 28, 2020 at 01:52PM by

Michael Mullins with Scleroderma and its affect on the face.
My father with the advanced sclerodermic changes, months before his death

Scleroderma, a rare autoimmune disease, is something that my father had and over a course of seven years, we saw a vital man suffer through this disease and becoming more and more fragile. Observing him and his process of handling the disease and the multiple medical appointments and expectations was part of what inspired me to learn more about autoimmune diseases and the importance of listening to and learning from those who have the lived experience of the disease.   

The disease is rare and even more so in males, with the disease most commonly occurring in females between the ages of 35 and 55 years. About 30% of people with the disease will survive for 20 years or more after prognosis. However, males have a poorer prognosis for disease survivorship (Lofgren et al 2016). My father who was diagnosed in his 60s survived for 7 years with the disease, and this was considered expected given his age of diagnosis and gender.

Recently, I observed a television program identifying Cairns in Tropical North Queensland as being one of the world’s hot spots for this disease. In Australia there are about 5000 people affected by the disease and worldwide there are about 2.5 million people affected by this disease.

In this blog we will explore:

// What is scleroderma?

// What is collagen?

// What is the difference between localized and systemic scleroderma?

// What is CREST?

// What are the symptoms, and various exercise considerations?

// What are the treatments and considerations when working with this disease?

Scleroderma is one of the topics that we explore in our immunity course as part of the connective tissue disorders. We have been working on this course for many years and the online version will be released in 2021.

What is scleroderma?

One of the earliest signs of scleroderma is a condition called Raynaud’s syndrome. It is important to remember that a person may have Raynaud’s syndrome without it becoming a condition such as scleroderma. Other symptoms include:

// skin problems

// skin ulcers

// dry eyes and mouth

// gastrointestinal problems

// respiratory problems  

A defining characteristic of scleroderma is that there is a change to the way the body produces and lays down collagen, hence issues to skin, eyes and organs. The exact mechanism of why the body changes its collagen matrix is not well understood, but new research is constantly coming out bringing further light to the causes of this disease. In this chapter we are not looking at the reasons why scleroderma occurs but rather how the disease plays out and how we can work with a person to maintain as high quality of life as possible. 

There are two types of scleroderma, both manifesting changes to collagen production:

// localised scleroderma

// systemic scleroderma (also known as generalized scleroderma and this is the more severe form)

Collagen

Collagen is an integral protein to all connective tissues of the body. Fibroblastic activity results in the laying down of collagen in the repair of cells and tissues. Remember that our connective tissues are organised in certain ways and when it is damaged, fibroblasts lay down collagen in order to repair that damage. I like to think of it like repairing stitches in the torn tissues of our body. Like a skilled seamstress can make the repaired tear in a shirt unnoticeable, that is what happens over time when the body is functioning well and the repair process is working as intended. If a person is suffering from scleroderma the collagen fibres are laid down chaotically and in excess which means the tissues have noticeable damage to them that affect their normal function. 

What is localized scleroderma?

This form mainly affects your skin in which excessive layers of collagen fibres are laid down. The collagen fibres are organized into hard oval patches (this is called morphea) or in lines or streaks of thickened skin. These characteristics are also seen in systemic (or generalized) scleroderma.

 

Images from this https://www.medicinenet.com/image-collection/morphea_early_stage_picture/picture.htm

Picture of Morphea (Early).

Images from this https://www.medicinenet.com/image-collection/morphea_late_stage_picture/picture.htmPicture of Morphea (Late Stage).

 

Localised scleroderma is often found in the face, hands, and feet. A big problem experienced in this type of scleroderma is that skin changes can lead to joint restrictions and muscle and tissue damage. Skin thickening can result in flexion deformities of the fingers, and the loss of hand function, and needless to say this can be a significant problem when it comes to the basic activities of daily life such as getting dressed. The implications in the face is more than aesthetics, as it can impact on a person’s ability to open their mouth and can result in problems with their teeth and jaw. All of which can contribute to problems in facial expression, communication, and eating.

What is systemic scleroderma?

Systemic scleroderma, also called generalized scleroderma, can involve many body parts or systems. There are two types:

// Limited scleroderma, which is sometimes called CREST syndrome, and it has five common features: 

Calcinosis. This is when calcium salts form nodules under the skin or in organs.

Raynaud’s phenomenon. This is a lack of blood flow to parts of the body such as fingers, toes, or nose, usually because of cold. The skin might turn red, white or blue.

Esophageal dysfunction. This is when the esophagus doesn’t work the way it should.

Sclerodactyly. This is when skin becomes thin and shiny. It usually causes problems with moving fingers and toes. It can result in ulcerations.

Telangiectasia. This is when small blood vessels grow near the surface of the skin. This is often called spider veins, but in the case of scleroderma the number of broken veins increases significantly with the disease and is a sign of vascular damage.

CREST

image from https://medlineplus.gov/ency/imagepages/19507.htm

 

// Diffuse scleroderma, which develops quite quickly with thickening of skin on the torso, thighs, upper arms, hands, and feet as a result. Internal organs, lungs, kidneys, and gastrointestinal tract are also affected.

Needless to say that a diagnosis of scleroderma means that a person is going to be seeing a lot of medical staff and there will be a lot of appointments, treatments and considerations. Specialist involved will include:

// Physicians

// Dermatologist

// Cardiologist

// Respiratory specialist

// Immunologist

// Gastroenterologists

// Nephrologists

// Rheumatologist

Clients will also be dealing with physiotherapists, speech therapists, and occupational therapists and will be undertaking both local (think face, neck, and hand therapies) as well as generalized therapies for posture, breathing, muscle strength, and general quality of life. 

As movement teachers, there are many things that we can do to help our clients with posture, muscle strengthening to reduce contractures, and help with general movement. Understanding, pacing, and tailoring work in a non-clinical setting can make a huge difference to these clients, who often endure multiple medical appointments and a rapidly declining quality of life.

Considerations for skin and scleroderma

Skin involvement affects the hands and face in the early stages of scleroderma and can go onto affect many other organs and parts of the body. The skin changes are classified into three phases:

// Edematous phase

The edematous phase is characterized by reduced finger movement and function. Eg the hand becomes swollen and the tissues become stiff because of fluid retention. The fingers swell up making it difficult for the person to maneuver their hands. This can also affect their feet. 

To try and imagine how it would feel like, put on some rubber gloves and fill them with water then seal them with a rubber band. Now try and dress or do simple tasks. This is how it would be for people in the edematous stage of scleroderma. 

// Sclerotic phase

This is when the skin becomes fibrotic in its consistency. The skin loses its elasticity and becomes shiny and taut which means it does not have the flexibility you need for joint movement. In this phase you can start to see contractures because the skin and connective tissues are too tight to allow muscles and joints to sit in a comfortable rest position. The hands start to appear clawed and it can be difficult for a person to make a fist and properly grasp objects. 

It is important to remember that these contractions are not because of upper motor lesions, as seen in cases such as MS or CP. Rather the contractions are because of the tightening of the skin, probably more in alignment with what is seen in severe burns that have not been properly rehabilitated.

The contractions will also affect the face and people start to lose facial expression. This is called amimica and it can involve losing teeth because the gums and salivary glands lose their integrity. 

Bone resorption of the temporomandibular joint (TMJ) may cause osteolysis of the condyles, branches and changes tothe angles of the mandible. Resulting TMJ impairments may lead to severe dysfunctions in jaw movements and mouth opening.

// Atrophic phase

In the later atrophic stage, the dermis layer of the skin becomes thinner and therefore no longer a good barrier to infections. This is also the part of our skin that contains your blood supply and hair follicles etc. 

During this phase the skin and the blood supply loses its integrity making a person susceptible to changes in temperature and wound healing and the development of ulcers from cuts and bruises. This is a phase in which people have difficulty opening their mouths or even chewing on food because the skin is so tight and restricted. Problems also arise because they start to lose their teeth and their gums deteriorate.

All of these phases are associated with pain and fatigue. The fatigue can come from changes in breath function and capacity to get good oxygen supply and nutritional absorption. The fatigue can also be associated just with the additional effort required to achieve simple activities of daily living as the person’s functional ability to grasp and manipulate objects is diminished.

Sandqvist et al. (2000) showed that difficulties in the Activities of Daily Living (ADL) were mainly related to functional impairments in the hands, particularly stiffness and reduced grip strength and dexterity. Avouac,et al. (2009) found that the changes in the hands and face of systemic scleroderma patients were often undervalued and generally not thoroughly investigated and treated.

Below is a video from our Anatomy Dimensions Neck and Jaw course.

If you are interested in the Makarlu which is a fantastic tool for releasing the facial muscles affected in conditions like Scleroderma you can purchase the product Shop Makarlu 

When we consider working with scleroderma clients we need to appreciate that:

// rehabilitation techniques need to be integrated, selected, and tailored to the clients in a way that looks at movement beyond simply a traditional postural focus. Some videos are included below.

// global rehabilitation is needed and should include a focus on posture, breathing, muscle strength, and overall quality of life. The musculoskeletal system needs to be treated in its entirety in order to prevent or reduce impairments in all other areas and prevent damage due to postural compensations.

// pulmonary techniques need to be incorporated.

The focus of pulmonary rehabilitation is to “reduce breathing difficulties” and “increase physical strength.” It involves the following:

// maintaining the flexibility of the rib cage

// maintaining the flexibility of breathing-related muscles,

// improving breathing-related muscle strength, 

// strengthening lower body muscles,

// performing aerobic exercise, 

// understanding proper breathing methods, and 

// learning self-care and self-training. 

Cardiovascular exercise tolerance work would be done with exercise physiologists as part of the respiratory conditioning. However, a movement teacher would readily teach many of the exercises for maintaining rib mobility and breath. 

Scleroderma Treatment

Whilst scleroderma can be managed it cannot be cured. The symptoms can be managed with:

// Nonsteroidal anti-inflammatory drugs, eg aspirin or ibuprofen which can help with swelling and pain.

// Steroids and other medications that slow or suppress the immune system. These can help with muscle, joint or internal organ problems.

// Drugs to boost blood flow to the fingers, which is important for Raynaud’s syndrome.

// Blood pressure and heartburn medications.

// Drugs to open blood vessels in your lungs or to keep tissue from scarring.

// Antibiotics to help fight infections.

// Medications to help move food from the gastrointestinal tract.

Some ideas for working with clients with scleroderma can be found below. Please note that these have been done quickly and in zoom classes so are not the high-quality visual and audio content that we use in our courses. However, we hope that this material will at least help as a basis for some ideas when working with clients with scleroderma. If you are interested in our online courses you can write to us education@bodyorganics.com.au for more information.

In this series of videos we look at ideas for hands and face.  If you move through  to about 2 minutes to learn about some of the hand exercises to help strengthen and face exercises to help maintain mobility of the jaw and face.

 

 

References

  1. Avouac, J, Kowal-Bielecka, O, Landewe, R. European League Against Rheumatism (EULAR) Scleroderma Trial and Research group (EUSTAR) recommendations for the treatment of systemic sclerosis: methods of elaboration and results of systematic literature research. Ann Rheum Dis. 2009;68(5):629-634.
  2. Lodish H, Berk A, Zipursky SL, et al. Molecular Cell Biology. 4th edition.New York: W. H. Freeman; 2000. (this chapter was accessed 5 July 2020  Section 22.3, Collagen: The Fibrous Proteins of the Matrix )
  3. Lofgren S, Hinchcliff M, Carns M, Wood T, Aren K, Arroyo E, Cheung P, Kuo A, Valenzuela A, Haemel A, Wolters PJ, Gordon J, Spiera R, Assassi S, Boin F, Chung L, Fiorentino D, Utz PJ, Whitfield ML, Khatri P. Integrated, multicohort analysis of systemic sclerosis identifies robust transcriptional signature of disease severity. JCI Insight. 2016 Dec 22;1(21):e89073.

 

4. Mugii.N, Hamaguchi.Y, Maddali-Bongi . S. Clinical significance and usefulness of rehabilitation for systemic sclerosi First Published April 4, 2018; pp. 71–80https://journals-sagepub-com.ezproxy.library.uq.edu.au/toc/jsoa/3/1

 

  1. Sandqvist, G, Eklund, M. Validity of HAMIS: a test of hand mobility in scleroderma. Arthritis Care Res. 2000;13(6):382-387.

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