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Scleroderma
Disease definition
Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).
ORPHA:801
Classification level: Group of disorders- Synonym(s): -
- Prevalence: 1-5 / 10 000
- Inheritance: Not applicable
- Age of onset: All ages
- ICD-10: -
- OMIM: -
- UMLS: C0011644
- MeSH: -
- GARD: -
- MedDRA: 10039710
Summary
Epidemiology
The prevalence is estimated at around 1-9/100,000 for localized scleroderma, and 1/6,500 adults for systemic sclerosis. Women are predominantly affected (F/M sex ratio around 4:1).
Clinical description
Localized scleroderma is the cutaneous form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques (morphea) or strips (linear scleroderma). Systemic sclerosis (SSc) is a generalized disorder characterized by fibrosis and vascular obliteration in the skin and organs, particularly, lungs, heart, and digestive tract.
Etiology
The exact cause of scleroderma is unknown. The disease originates from an autoimmune reaction which leads to localized overproduction of collagen. In some cases, the condition is associated with exposure to chemicals. Other suggested causes include genetic and infectious mechanisms.
A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010) Greek (2010, pdf)
Detailed information
General public
- Article for general public
- Français (2007, pdf) - Orphanet
- Arabic (2016) - PRINTO/PRES
- Bengali (2016) - PRINTO/PRES
- Czech (2016) - PRINTO/PRES
- Dansk (2016) - PRINTO/PRES
- Deutsch (2016) - PRINTO/PRES
- Greek (2016) - PRINTO/PRES
- English (2016) - PRINTO/PRES
- Español (2016) - PRINTO/PRES
- Hebrew (2016) - PRINTO/PRES
- Hrvatski (2016) - PRINTO/PRES
- Magyar (2016) - PRINTO/PRES
- Italiano (2016) - PRINTO/PRES
- Latvian (2016) - PRINTO/PRES
- Nederlands (2016) - PRINTO/PRES
- Norsk (2016) - PRINTO/PRES
- Polski (2016) - PRINTO/PRES
- Português (2016) - PRINTO/PRES
- Romanian (2016) - PRINTO/PRES
- Russian (2016) - PRINTO/PRES
- Slovak (2016) - PRINTO/PRES
- Slovensko (2016) - PRINTO/PRES
- Serbian (2016) - PRINTO/PRES
- Thai (2016) - PRINTO/PRES
- Türkçe (2016) - PRINTO/PRES
- Ukrainian (2016) - PRINTO/PRES
- Chinese (2016) - PRINTO/PRES
Guidelines
- Emergency guidelines
- Français (2017, pdf) - Orphanet Urgences
- Español (2017, pdf) - Orphanet Urgences
Disability
- Disability factsheet
- Français (2018, pdf) - Orphanet


Additional information