Autosomal dominant cutis laxa

What it is

From: Orphanet

A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

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.

Cutis laxa · Very frequent (99-80%)

Wrinkled, redundant, inelastic and sagging skin.

Fragmented elastic fibers in the dermis · Very frequent (99-80%)

Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.

Hyperextensible skin · Very frequent (99-80%)

A condition in which the skin can be stretched beyond normal, and then returns to its initial position.

Premature skin wrinkling · Very frequent (99-80%)

The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.

Redundant skin · Very frequent (99-80%)

Loose and sagging skin often associated with loss of skin elasticity.

Increased number of skin folds · Very frequent (99-80%)

Abnormal facial shape · Frequent (79-30%)

An abnormal morphology (form) of the face or its components.

Abnormality of the curvature of the vertebral column · Frequent (79-30%)

The presence of an abnormal curvature of the vertebral column.

Aortic aneurysm · Frequent (79-30%)

Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.

Aortic regurgitation · Frequent (79-30%)

An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.

Inguinal hernia · Frequent (79-30%)

Protrusion of the contents of the abdominal cavity through the inguinal canal.

Joint hypermobility · Frequent (79-30%)

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.

Mitral regurgitation · Frequent (79-30%)

An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.

Hernia · Frequent (79-30%)

Other findings in the same source

From: Orphanet

Additional reported features include Prematurely aged appearance (Frequent (79-30%)); Adducted thumb (Occasional (29-5%)); Bladder diverticulum (Occasional (29-5%)); Brisk reflexes (Occasional (29-5%)); Broad forehead (Occasional (29-5%)); Bronchiectasis (Occasional (29-5%)); Bronchiolitis (Occasional (29-5%)); Coarctation of aorta (Occasional (29-5%)); Congestive heart failure (Occasional (29-5%)); Corneal opacity (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal dominant

Frequency and the population described

From: Orphanet

Reported case(s): 50.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal dominant pattern means that one altered copy of a relevant gene can be sufficient for the condition. Some affected people inherit the change; others have a new change without an affected parent. The precise finding, family history and condition determine what this means for relatives.

Which doctor should you see?

The suggested department for discussing Autosomal dominant cutis laxa is Dermatology, with a dermatologist as the relevant type of clinician. Dermatologist; paediatric services for children as appropriate.

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.

• Which features of the skin, hair or nails distinguish the possibilities?
• Would photographs over time help document the changes?
• What should be expected from treatment, and how will irritation or other adverse effects be managed?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Autosomal dominant cutis laxa. 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.