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Scleroderma

Scleroderma is a rare, chronic disease characterized by excessive deposits of collagen. Progressive systemic scleroderma or systemic sclerosis, the generalised type of the disease, can be fatal. The localised type of the disease tends not to be fatal. more...

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The term 'localised, generalised sclerderma' can be used to describe cases where the disease covers a large area of the body - typically more than 40%.

Signs and symptoms

Scleroderma affects the skin, and in more serious cases, it can affect the blood vessels and internal organs. The most evident symptom is the hardening of the skin and associated scarring. Typically the skin appears reddish or scaly in appearance. Blood vessels may also be more visible. Where large areas are affected, fat and muscle wastage will weaken limbs and affect appearance.

The seriousness of the disease varies hugely between cases. The two most important factors to consider are, the level of internal involvement (beneath the skin), and the total area covered by the disease. For example there are cases where the patient has no more than one or two lesions (affected areas), perhaps covering a few inches. These are less serious cases and tend not to involve the internal bodily functions.

Cases with larger coverage are far more likely to affect the internal tissues and organs. Where an entire limb is affected, symptoms will almost certainly have serious consequences on the use of that limb. The heart and lungs will be affected when the disease covers this area of the torso. Some patients also experience gastrointestinal problems, including heartburn and acid reflux. Internal scarring may sometimes spread beyond what can be seen by the naked eye.

There is discoloration of the hands and feet in response to cold. Most patients (>80%) have Raynaud's phenomenon, a vascular symptom that can affect the fingers, and toes.

Systemic scleroderma and Raynaud's can cause painful ulcers on the fingers or toes, which are known as digital ulcers.

Types

There are three major forms of scleroderma: diffuse, limited (CREST syndrome) and morphea/linear. Diffuse and limited scleroderma are both a systemic disease, whereas the linear/morphea form is localized to the skin. (Some physicians consider CREST and limited scleroderma one and the same, others treat them as two separate forms of scleroderma.)

Diffuse scleroderma

Diffuse scleroderma is the most severe form - it has a rapid onset, involves more widespread skin hardening, will generally cause much internal organ damage (specifically the lungs and gastrointestinal tract), and is generally more life threatening.

Limited scleroderma/CREST syndrome

The limited form is much milder: it has a slow onset and progression, skin hardening is usually confined to the hands and face, internal organ involvement is less severe, and a much better prognosis is expected.

The limited form is often referred to as "CREST" syndrome. CREST is an acronym for:

Read more at Wikipedia.org


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NIH Establishes National Family Registry for Scleroderma - National Institutes of Health
From American Family Physician, 7/15/01 by Rosemarie Sweeney

A national Scleroderma Family Registry and DNA Repository has been established by the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health (NIH). Its overall objective is to identify genes that influence susceptibility to scleroderma, a complex, chronic, autoimmune disease. The registry is led by Dr. Maureen D. Mayes, professor of internal medicine, Wayne State University School of Medicine, Detroit, Mich. The registry will study both families with only one case of scleroderma and those with more than one case (known as multiplex families). To learn more about the registry, contact the registry coordinator, Marilyn Perry, Scleroderma Family & DNA Repository, Wayne State University School of Medicine, Hutzel Hospital, 4707 St. Antoine, Detroit, MI 48201; toll-free telephone: 800-736-6864; fax: 313-966-7776; e-mail: mperry@wayne.edu.

COPYRIGHT 2001 American Academy of Family Physicians
COPYRIGHT 2001 Gale Group

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