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cutis laxa, autosomal dominant 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include: Premature skin wrinkling, Sideways curvature of the spine (scoliosis), Mitral regurgitation, and Cutis laxa.

Organ System	Phenotype Count	Example Features
Skin	1	Premature skin wrinkling
Bones and joints	1	Sideways curvature of the spine (scoliosis)
Heart and blood vessels	1	Mitral regurgitation

GeneReviews

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.

Source: GeneReviews — "FBLN5-Related Cutis Laxa"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for cutis laxa, autosomal dominant 2. The disease remains an area of unmet medical need.

GeneReviews

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

System/Concern	Evaluation	Comment
Cardiovascular	Echocardiogram	Consider pulmonary vessel angiogram if clinically indicated.
Renal	Kidney ultrasound exam	Consider voiding cystoureterogram, given potential presence of urethral diverticula; catheterization should be done carefully. IV pyelogram may be an alternative.
Gastrointestinal	Exam for inguinal hernia	Barium enema if clinically indicated
Other	Consultation w/clinical geneticist /or genetic counselor	IV = intravenous Treatment of Manifestations Table 4. Treatment of Manifestations in Individuals with FBLN5-Related Cutis Laxa Manifestation/Concern

Source: GeneReviews — "FBLN5-Related Cutis Laxa"

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cutis laxa, autosomal dominant 2

Overview

Clinical Presentation

Clinical Guidance

Autosomal Recessive FBLN5-Related Cutis Laxa

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Genetic Landscape

Diagnosis

Diagnostic Criteria

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cutis laxa, autosomal dominant 2

Overview

Clinical Presentation

Clinical Guidance

Autosomal Recessive FBLN5-Related Cutis Laxa

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

Treatment

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team