Penetrance

ELN-related cutis laxa has 100% penetrance on detailed clinical observation .

Source: GeneReviews — "ELN-Related Cutis Laxa"

Diagnostic Criteria

No consensus clinical diagnostic criteria for ELN-related cutis laxa have been published.

Suggestive Findings

ELN-related cutis laxa should be suspected in individuals with the following clinical findings and family history. Clinical findings include generalized cutis laxa (ranging from generalized skin redundancy causing excessive skin folds to skin hyperextensibility without obvious skin folds) with or without the following:

• Present at birth

• Inguinal hernia, with increased risk at all ages

• Joint hyperlaxity

• Progressive (may be present as early as childhood)

• Aortic root dilatation

• Emphysema

• Ptosis (eyelid drooping that can be caused by skin laxity)

• Facial characteristics that may become more prominent with age: large ears, convex nasal ridge, long philtrum, aged appearance

Source: GeneReviews — "ELN-Related Cutis Laxa"

Differential Diagnosis

Table 3. Disorders to Consider in the Differential Diagnosis of ELN-Related Cutis Laxa

Management Guidelines

No clinical practice guidelines for ELN-related cutis laxa have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with ELN-related cutis laxa, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with ELN-Related Cutis Laxa

Source: GeneReviews — "ELN-Related Cutis Laxa"

Surveillance Guidelines

Table 6.

Recommended Surveillance for Individuals with ELN-Related Cutis Laxa

System/Concern | Evaluation | Frequency

Cardiovascular

| Echocardiography | Annually (or depending on measurements/progression)

Magnetic resonance angiography | Post puberty, frequency based on observations or every 5 yrs1

Pulmonary

| Lung function tests | • Baseline testing at age 7 yrs

• Repeat if there is shortness of breath or decline in peak flow measurement.

Peak flow measurement | • Baseline testing at age 5 yrs

• Repeat every 6 mos.

Inguinal hernia

| Clinical eval (Valsalva maneuver) | Annually

Joint pain

| Clinical eval

Ptosis

Bladder diverticula

| • Ultrasound of urinary tract

• Voiding cystography

| Whenever there is incomplete voiding or urinary tract infections

Family/Community

| Assess family need for social work support (e.g., other local resources) follow-up genetic counseling if new questions arise (e.g., family planning). | At each visit

1. Although the risk for arterial aneurysms beyond the ascending aorta is likely low, given the small number of individuals reported with ELN-related cutis laxa and the known risks for arterial aneurysm in other connective tissue disorders, it is recommended that the potential risks and benefits of screening with MR angiography be discussed with the patient.

Source: GeneReviews — "ELN-Related Cutis Laxa"