Rare diseases · Sign or symptom

Scleroderma

HP:0100324

What it means

A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.

A chronic autoimmune phenomenon characterised by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as mixed connective tissue disease and systemic sclerosis. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease.

In everyday care

Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:

Rare diseases that can present with this11

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Progressive systemic scleroderma · Pseudoscleroderma

Scleroderma

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.