Reynolds syndrome

What it is

From: Orphanet

Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormality of the gastric mucosa · Very frequent (99-80%)

An abnormality of the gastric mucous membrane.

Fatigue · Very frequent (99-80%)

A subjective feeling of tiredness characterized by a lack of energy and motivation.

Gastroesophageal reflux · Very frequent (99-80%)

A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.

Generalized abnormality of skin · Very frequent (99-80%)

An abnormality of the skin that is not localized to any one particular region.

Hepatomegaly · Very frequent (99-80%)

Abnormally increased size of the liver.

Myalgia · Very frequent (99-80%)

Pain in muscle.

Pruritus · Very frequent (99-80%)

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

Arthritis · Frequent (79-30%)

Inflammation of a joint.

Dysphagia · Frequent (79-30%)

Difficulty in swallowing.

Fever · Frequent (79-30%)

Body temperature elevated above the normal range.

Keratoconjunctivitis sicca · Frequent (79-30%)

Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.

Mucosal telangiectasiae · Frequent (79-30%)

Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.

Sclerodactyly · Frequent (79-30%)

Localized thickening and tightness of the skin of the fingers or toes.

Skin rash · Frequent (79-30%)

A red eruption of the skin.

Other findings in the same source

From: Orphanet

Additional reported features include Skin ulcer (Frequent (79-30%)); Telangiectasia of the skin (Frequent (79-30%)); Xerostomia (Frequent (79-30%)); Irregular hyperpigmentation (Frequent (79-30%)); Ascites (Occasional (29-5%)); Cirrhosis (Occasional (29-5%)); Infectious encephalitis (Occasional (29-5%)); Jaundice (Occasional (29-5%)); Lichenification (Occasional (29-5%)); Respiratory insufficiency (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adult

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Reynolds syndrome is Rheumatology, with a rheumatologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Are the findings inflammatory, structural or due to another mechanism?
• Is there evidence that other organs need assessment?
• How will function and any treatment-related risks be monitored?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Reynolds syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.