Clinical Guidance

Autosomal Recessive FBLN5-Related Cutis Laxa

To date, six families with autosomal recessive FBLN5-related cutis laxa have been described [, , , , , , ]. Intrafamilial variability in age of onset is observed. Cutis laxa. The most common finding in FBLN5-related cutis laxa is described as furrowing of the skin of the whole body that is particularly obvious in the neck, axillae, and groin. The face has a "droopy" appearance with eyelid ptosis and drooping cheeks. When one tries to extend the skin, it does not display hyperelasticity as in the Ehlers-Danlos syndromes, but rather keeps its consistency. Pulmonary emphysema. Most affected individuals have early childhood-onset pulmonary emphysema, and some individuals have presented with emphysema during the neonatal period.

Diagnostic Criteria

Suggestive Findings

FBLN5-related cutis laxa should be suspected in individuals with the following clinical features:

• Cutis laxa

• Pulmonary emphysema

• Arterial involvement (e.g., peripheral pulmonary artery stenosis, supravalvar aortic stenosis)

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with FBLN5-related cutis laxa, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with FBLN5-Related Cutis Laxa

Surveillance Guidelines

Routine surveillance of the urinary tract for evidence of bladder diverticula and/or vesicoureteral reflux is indicated.

Source: GeneReviews — "FBLN5-Related Cutis Laxa"