Sunday January 20, 2013
Of hardened skins and cold extremities
By Dr YEAP SWAN SIM
The link between blue fingers and tight skin: scleroderma, or systemic sclerosis.
MRS T had been having joint pains for a few years, which her doctor had diagnosed as rheumatism. One day, while having dinner with a group of friends, one commented that her fingers had turned bluish in the air-conditioned restaurant.
“Oh, it’s quite normal,” she replied, as she rubbed her fingers to get the circulation moving again.
Six months later, her joint pains and finger circulation seemed to be getting worse, and her toes were also starting to change colour, going a purplish hue at the slightest hint of coldness.
She went to see hergeneral practitioner (GP), who referred her to a rheumatologist (a doctor specialising in the assessment of joint pains and arthritis) for further evaluation.
Apart from her joint pains and poor circulation, the doctor was also interested in a rash around her neck, where the skin had become a little darker and harder, with white areas within. He also asked other questions about whether she was losing her hair, suffered dry eyes or dry mouth, or had difficulty swallowing or breathing.
Thankfully, the answers were “no” to all the other questions. After examining her, the rheumatologist diagnosed Mrs T with scleroderma or systemic sclerosis.
What is scleroderma?
Scleroderma is a chronic, autoimmune disease that typically presents with thickened, hardened skin; scleros meaning “hardening”, and derma meaning “skin” in Greek. “Chronic” means that it is a long-term disease, and “autoimmune” refers to how the body’s immune system produces antibodies that attack itself.
Scleroderma is also known as systemic sclerosis (SSc). This is probably a better name as the disease can affect other organs in the body apart from the skin, hence, the term systemic (meaning general).
The thickened skin in scleroderma is caused by overproduction of collagen, which is the basic component of scar tissue. Abnormal accumulation of collagen is called fibrosis. Collagen is a normal part of skin and many organs.
However, in scleroderma, the balance of collagen formation and collagen breakdown is altered so that too much collagen builds up – thus, the skin feels hard.
There are two main forms.
One is localised SSc, where the skin fibrosis is confined to discrete areas in the body, sometimes called morphoea or linear SSc.
The other is the systemic form, divided into limited SSc, where the fingers, forearms, and more rarely, the face and neck are involved, and diffuse SSc, where the skin fibrosis is more generalised and spread over the upper arms, shoulders, chest and abdominal wall.
This diffuse form is more likely to be associated with internal organ involvement.
What are the symptoms?
The most obvious symptoms are related to skin sclerosis with the different distributions as described above. It can be preceded by skin swelling/puffiness. The affected areas can be itchy and painful.
As the skin gets thickened, it can lead to joint stiffness, as the skin cannot stretch as well as it used to. Commonly, the blood vessels can also be affected, causing a condition called Raynaud’s phenomenon, where the fingers and toes turn white or purple-blue in response to cold or stress. In Mrs T’s case, this was what she had noticed first.
Sometimes, there can be calcium deposits underneath the skin, most commonly in the finger-tips, called calcinosis.
More infrequently, other organs may be affected, including the lungs, bowel/gut and kidney. All these organs can be affected by the hardening.
Hardening of the lungs will lead to reduction in the amount of lung tissue that is functioning, so patients may feel breathless. Hardening of the bowel will cause the various parts of the bowel, from the gullet to the large bowel, not to move or contract so easily – our bowel usually spontaneously contracts to help move food onwards throughout the bowel to help absorption. If this does not happen, then there may be difficulty swallowing, or indigestion, when the stomach acid flows up the gullet because the muscles at the end of the gullet/oesophagus do not contract properly to keep the acid in the stomach. Immobility of the small and large bowel wall will lead to diarrhoea when food is not absorbed properly.
In the kidney, hardening of the kidney tissue and its blood vessels may lead to high blood pressure and reduced kidney function.
Are there tests for scleroderma?
Yes. The doctor will need to ask you about your symptoms and examine you. Following that, blood tests can be done to check whether you have certain types of antibodies in your blood. Other tests can be done to check if your lungs, kidneys or other organ systems are involved.
Scleroderma is a rare disease, affecting less than 0.1% of the population, with more females affected compared to men. As with all of the autoimmune diseases, the exact cause of the disease is unknown, but there is a genetic susceptibility in certain individuals, followed by a trigger – most likely environmental – that starts the autoimmune process.
Various genes have been implicated, and studies show that family members of SSc patients have a 1.4-2.5% chance of having the disease themselves. However, it also means that for the vast majority of patients, there is no clear-cut family history.
Environmental triggers that have been implicated in SSc include cytomegalovirus (CMV) infection, which can induce similar changes like those seen in the blood vessels and skin cells of patients with SSc.
In observational studies, stonemasons, gold miners and coal miners have been shown to have a slightly higher incidence of SSc; so, silica dust has been postulated to be a possible trigger.
About 20 years ago, there was a scare about silicone, leaking from breast implants, causing autoimmune disease, especially SSc. However, after further multiple large studies, it was concluded by the American College of Rheumatology in 1995 that silicone implant-exposed patients had no demonstrable additional risk for connective tissue or rheumatologic disease.
Much more rarely, SSc-like disorders may occur in patients exposed to organic solvents or vinyl chloride during the manufacturing process, or contaminated rapeseed oil.
Very rarely, several chemotherapy drugs given in the treatment of cancer, such as bleomycin, docetaxel and paclitaxel, have been associated with the development of SSc.
Like other autoimmune diseases, there is no cure for the disease, but treatments are available to control it.
What medication is given depends on the organ that is involved. For localised skin lesions, ultraviolet-A (UVA) light therapy is sometimes useful to soften the skin. Moisturising creams and treatment of itchiness can be given.
Raynaud’s phenomenon is usually treated with medications that open up blood channels (vasodilators), the most common of which are the calcium channel blockers such as nifedipine (which are also given for high blood pressure). High blood pressure needs to be treated accordingly.
Many patients with SSc have bowel involvement, especially acid reflux from the stomach, so medications for reducing acid production in the stomach, such as proton-pump inhibitors, are often prescribed.
It is important that patients with SSc are seen regularly by a doctor for monitoring of their disease activity and extent of organ involvement, as early detection and treatment will lead to a better long-term outcome.
Helpful websites for patients with SSc (accessed Nov 17, 2012) include:
Scleroderma Foundation: http://www.scleroderma.org
Scleroderma Society: http://www.sclerodermasociety.co.uk/
Raynaud’s and Scleroderma Association: http://www.raynauds.org.uk/
Arthritis Foundation: http://www.arthritis.org/disease-center.php?disease_id=26
Mayo Clinic: http://www.mayoclinic.com/health/scleroderma/DS00362
n This article is contributed by The Star Health & Ageing Panel, which comprises a group of panellists who are not just opinion leaders in their respective fields of medical expertise, but have wide experience in medical health education for the public. The members of the panel include: Datuk Prof Dr Tan Hui Meng, consultant urologist; Dr Yap Piang Kian, consultant endocrinologist; Datuk Dr Azhari Rosman, consultant cardiologist; A/Prof Dr Philip Poi, consultant geriatrician; Dr Hew Fen Lee, consultant endocrinologist; Prof Dr Low Wah Yun, psychologist; Datuk Dr Nor Ashikin Mokhtar, consultant obstetrician and gynaecologist; Dr Lee Moon Keen, consultant neurologist; Dr Ting Hoon Chin, consultant dermatologist; Prof Khoo Ee Ming, primary care physician; Dr Ng Soo Chin, consultant haematologist. For more information, e-mail email@example.com. The Star Health & Ageing Advisory Panel provides this information for educational and communication purposes only and it should not be construed as personal medical advice. Information published in this article is not intended to replace, supplant or augment a consultation with a health professional regarding the reader’s own medical care. The Star Health & Ageing Advisory Panel disclaims any and all liability for injury or other damages that could result from use of the information obtained from this article.