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Living with Reynolds syndrome

An autoimmune condition combining liver (bile duct) disease with skin tightening and blood vessel and swallowing problems.

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Understanding Reynolds syndrome

Reynolds syndrome is an autoimmune condition in which primary biliary cholangitis (PBC) and limited cutaneous systemic sclerosis (LCSS) occur together.

PBC affects the liver's bile ducts and can bring tiredness, itchy skin, and an enlarged liver. LCSS can bring calcium deposits in the skin, sores on the fingers and toes, small red blood vessel marks on the face, Raynaud's (fingers that change color in the cold), acid reflux, and tight skin on the fingers. It starts in adulthood.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Tiredness (fatigue)
  • Itchy skin (pruritus)
  • Enlarged liver (hepatomegaly)
  • Tight skin on fingers and toes (sclerodactyly)
  • Acid reflux and trouble swallowing
  • Dry eyes and dry mouth

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include autoimmune and inflammatory disease specialists, digestive system specialists, kidney specialists and skin, hair, and nail specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    Scleroderma Research Foundation and National Scleroderma Foundation may keep lists of experts for this condition.

Care & treatment

Care team
autoimmune and inflammatory disease specialists (rheumatologists); Digestive system specialists (gastroenterologists); Kidney specialists (nephrologists); Skin, hair, and nail specialists (dermatologists)
Expert care
Expert lists: Scleroderma Research Foundation, National Scleroderma Foundation
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with Scleroderma Research Foundation and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
How are the liver and the skin symptoms monitored?
Which specialists should be on my care team?
What can help with itching, reflux, and Raynaud's symptoms?

Quick facts

Symptoms usually startAdult
InheritanceAutosomal Dominant

GARD describes it as an autoimmune condition. It lists autosomal dominant inheritance but does not name a gene.

KidneyGastrointestinalSkin

Also known as: primary biliary cirrhosis and systemic scleroderma; primary biliary cirrhosis co-occurrent with systemic scleroderma; primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Patient organizations

Source: NIH GARD · Reynolds syndromeGARD ID 4697 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Reynolds syndrome.

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Embrace the Ask: How to Seek The Support You Need

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Explore research for Reynolds syndrome

Explore actively recruiting Reynolds syndrome studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Reynolds syndrome with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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