Scleroderma

Welcome to PT 635 Pathophysiology of Complex Patient Problems This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!

Original Editors - Amanda Schoenfelder & Katie Williams from Bellarmine University's Pathophysiology of Complex Patient Problems project.

Lead Editors - Your name will be added here if you are a lead editor on this page.  Read more.

Definition/Description

Scleroderma is a connective tissue disease that involves changes in the skin, blood vessels, muscles, and internal organs. It is a chronic, progressive autoimmune disorder where inflammation and the overproduction of collagen accumulate in the body. There are two main types of Scleroderma- Systemic and Localized.

IMAGE

Systemic Scleroderma may affect multiple systems such as the integumentary, cardiopulmonary, vascular, gastrointestinal, genitourinary, or musculoskeletal. There are three forms of Systemic Scleroderma.

1. With Diffuse Scleroderma skin thickening occurs more rapidly and involves more skin areas than in limited. In addition, people with diffuse scleroderma have a higher risk of developing “sclerosis” or fibrous hardening of the internal organs.
   
2. Sine Scleroderma involves organ fibrosis with no skin involvement.
   
3. With Limited Scleroderma (CREST syndrome) skin thickening is less widespread, typically confined to the fingers, hands and face, and develops slowly over years. Internal problems occur, but they are less frequent and tend to be less severe than in diffuse scleroderma. CREST stands for the symptoms commonly associated with Limited Scleroderma.
   

• Calcinosis (KAL-sin-OH-sis): where calcium deposits form under the skin on the fingers or other areas of the body
  
• Raynaud Phenomenon (ray-NOHZ): spasm of blood vessels in the fingers or toes in response to cold or stress
  
• Esophageal dysfunction (eh-SOFF-uh-GEE-ul): difficulty swallowing
  
• Sclerodactyly (SKLER-oh-DAK-till-ee): tightening of the skin over the fingers which may cause the fingers to bend
  
• Telangiectasia (tel-AN-jee-ek-TAY-zee-uh): dilated blood vessels that look like spiders on the skin of the fingers, face, or inside of the mouth

IMAGE

Localized Scleroderma usually affects only the skin on the hands and face. It develops slowly, and rarely, if ever, spreads throughout the body or causes serious complications. There are two types of Localized Scleroderma.

1. Morphea is characterized by waxy patches on the skin of varying sizes, shapes and color. The skin under the patches may thicken. The patches may enlarge or shrink, and often may disappear spontaneously.
   
2. Linear Scleroderma starts as a streak or line of hardened, waxy skin on an arm or leg or on thehead and neck. Linear scleroderma tends to involve deeper layers of the skin as well as the surface layers, and sometimes affects the motion of the joints, which lie underneath. Linear scleroderma often appears mostly on one side of the body.
   

Mixed Connective Disease is when Scleroderma is diagnosed when another disease, such as systemic lupus erythematosus and polymyositis, has been previously diagnosed.

Prevalence

It’s estimated that about 300,000 Americans have scleroderma. About one third of those people have the systemic form of scleroderma. Localized scleroderma is more common in children, whereas systemic scleroderma is more common in adults. Overall, female patients outnumber male patients about 4-to-1. Although scleroderma is not directly inherited, some scientists feel there is a slight predisposition to it in families with a history of rheumatic diseases. However, scleroderma can develop in every age group from infants to the elderly, but its onset is most frequent between the ages of 25 to 55. Race and ethnic background, may influence the risk of getting scleroderma, the age of onset, and the pattern or severity of internal organ involvement.Choctaw Native Americans in Oklahoma are at least 20 times as likely as is the general population to develop systemic scleroderma. This increased risk doesn't apply to Choctaws living in Mississippi. African-Americans are more at risk to develop systemic scleroderma and are more likely to develop severe lung complications.

Characteristics/Clinical Presentation

Integumentary

• Fingers or toes that turn blue or white in response to hot and cold temperatures (Raynauds)
  
• Hair loss
  
• Skin hardness
  
• Skin that is abnormally dark or light
  
• Skin thickening, stiffness, and tightness of fingers, hands, and forearm
  
• Small white lumps beneath the skin, sometimes oozing a white substance that looks like toothpaste
  
• Sores (ulcers) on the fingertips or toes
  
• Tight and mask-like skin on the face
  

Musculoskeletal

• Joint pain
  
• Numbness and pain in the feet
  
• Pain, stiffness, and swelling of fingers and joints
  
• Wrist pain
  

Pulmonary

• Dry cough
  
• SOB
  
• Wheezing
  

GI

• Bloating after meals
  
• Constipation
• Diarrhea
• Difficulty swallowing
• Esophageal reflux or heartburn
• Problem controlling stools (fecal incontinence)
  

Associated Co-morbidities

add text here

Medications

Medicines used to treat scleroderma include: 

• Power anti-inflammatory medicines called corticosteroids
• Immune-suppressing medications such as methotrexate and Cytoxan
• Nonsteroidal anti-inflammatory drugs (NSAIDs)

Other treatments for specific symptoms may include:

• Medicines for heartburn or swallowing problems
• Blood pressure medications (particularly ACE inhibitors) for high blood pressure or kidney problems
• Light therapy to relieve skin thickening
• Medicines to improve breathing
• Medications to treat Raynaud's phenomenon
• Intestinal dysfunction
• Medicines to increase saliva secretion in the mouth to reduce effects of Sjogren’s Syndrome

Diagnostic Tests/Lab Tests/Lab Values

add text here

Etiology/Causes

The cause of scleroderma is unknown. Some people with scleroderma have a history of being around silica dust (common in coal mines and rock quarries),polyvinyl chloride (paint thinners), or certain chemotherapy drugs, but most do not. Widespread scleroderma can occur with other autoimmune diseases, including systemic lupus erythematosus and polymyositis. 1 Research indicates that there is a susceptibility gene, which raises the likelihood of getting scleroderma, but by itself does not cause the disease. 2
 

Systemic Involvement

Integumentary

• Swelling in fingers and hands
• Sclerodactyly: thickened patches of skin, particularly on the fingers or tight skin around the hands, face or mouth.
• Skin can appear shiny because it's so tight, and movement of the affected area may be restricted.
• Ulcers: restricted blood flow permanently damages the tissue at the fingertips, causing pits or skin sores. In some cases, gangrene and amputation may follow. 3

GI

• GERD: valve dysfunction and narrowing of esophagus 2
• Swallowing difficulty from narrowing esophagus and decreased saliva production2
• Diarrhea: decrease in peristalsis causing increase in bacterial growth or malabsorbtion 2
• Constipation: weak or scarred colon muscles causing decreased peristalsis 2

Pulmonary

• Fibrosis: Build-up of collagen thickens lung tissue making the transport of oxygen into the bloodstream more difficult. 2
• Pulmonary arterial hypertension (PAH): state of increased resistance to blood flow through the lungs, can result from damage to blood vessels 2
• Respiratory muscle weakness: from fibrosis may decrease lung function 2<u</u>
  

Cardiac

• Heart Failure: from increased pressure secondary to Pulmonary Hypertension 2
• Pericarditis 3
• Arrythmias 3

Vascular

• Raynaud’s: blood vessels constrict or narrow in response to cold or emotional upset and stress. The resulting disturbance in blood circulation causes a series of color changes in the skin: white, blanched or pale, when circulation is reduced; blue as the affected part loses oxygen from decreased blood flow; and then red or flushed as blood flow returns and the part re-warms. Sensations such as tingling, numbness and coldness may be felt. In the “red” stage, a feeling of warmth, burning or throbbing may be noted. 2
  

Endocrine

• Sjögren Syndrome:  is characterized by a decrease in secretions of the tear glands and the salivary glands. The unusual dryness of the eyes resulting from this condition can lead to serious irritation and inflammation. Excessive dryness of the mouth may lead to difficulties in swallowing and speaking, a pronounced increase in tooth decay and cavities, and a reduced sense of taste. May also involve the vagina and other areas of the body. 2

GU

• Hypertension: when the kidneys are affected, you can develop an elevated blood pressure and an increased level of protein in your urine.
  
• Renal Crisis: which involves a sudden increase in blood pressure and rapid kidney failure. 
  
• Sexual Function: Erectile dysfunction and decrease of sexual lubrication 3

Dental

• Tooth Decay: decreased saliva and increased acid from GERD. 3

Medical Management (current best evidence)

Currently, there is no treatment that controls or stops the underlying problem—the overproduction of collagen—in all forms of scleroderma. Treatment and management focus on relieving symptoms and limiting damage, which is dependent upon the problems each individual experiences.

Several different specialists may be involved in the care of one person since scleroderma can affect many different organs and organ systems. Typically, care will be managed by a rheumatologist, who may refer the patient to other specialists, depending on the specific problems they are having.
These specialists can include:
• Dermatologist for the treatment of skin symptoms
• Nephrologist for kidney complications
• Cardiologist for heart complications
• Gastroenterologist for problems of the digestive tract
• Pulmonary specialist for lung involvement

Physical Therapy Management (current best evidence)

add text here

Alternative/Holistic Management (current best evidence)

add text here

Differential Diagnosis

add text here

Case Reports/ Case Studies

add links to case studies here (case studies should be added on new pages using the case study template)

Resources

add appropriate resources here

Recent Related Research (from Pubmed)

see tutorial on Adding PubMed Feed

References

see adding references tutorial.