Autosomal recessive cutis laxa type 1

What it is

From: Orphanet

A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

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 · Obligate (100%)

Wrinkled, redundant, inelastic and sagging skin.

Dermatochalasis · Very frequent (99-80%)

Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.

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.

Redundant skin · Very frequent (99-80%)

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

Emphysema · Very frequent (99-80%)

Lack of skin elasticity · Very frequent (99-80%)

Abnormal cardiovascular system morphology · Frequent (79-30%)

Any structural anomaly of the heart and blood vessels.

Abnormal facial shape · Frequent (79-30%)

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

Abnormal systemic arterial morphology · Frequent (79-30%)

An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.

Abnormality of the cheek · Frequent (79-30%)

An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface

Abnormality of the face · Frequent (79-30%)

An abnormality of the face.

Congestive heart failure · Frequent (79-30%)

The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.

Inguinal hernia · Frequent (79-30%)

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

Intrauterine growth retardation · Frequent (79-30%)

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Other findings in the same source

From: Orphanet

Additional reported features include Joint hypermobility (Frequent (79-30%)); Joint subluxation (Frequent (79-30%)); Motor delay (Frequent (79-30%)); Pathologic fracture (Frequent (79-30%)); Peripheral pulmonary artery stenosis (Frequent (79-30%)); Pneumothorax (Frequent (79-30%)); Abnormality of the thoracic cavity (Frequent (79-30%)); Hernia (Frequent (79-30%)); Respiratory insufficiency (Frequent (79-30%)); Abnormal cardiac ventricular function (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 recessive

Frequency and the population described

From: Orphanet

Reported case(s): 60.0; 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 recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Autosomal recessive cutis laxa type 1 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 recessive cutis laxa type 1. 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.