cutis laxa; elastolysis; loose skin; pachydermatocele

Introduction

Droopy eyelid.

Pathology

• connective tissue disorder
• reduced elastin mRNA levels
• deficient elastic fibers in dermis
• diminshed skin resilience
• hernias

Genetics

• autosomal dominant & autosomal recessive forms associated with defects in fibulin-5 gene
• associated with defects in fubulin-4 gene
• associated with defects in elastin gene &/or alterations in elastin expression (autosomal dominant type 1)

Clinical manifestations

• cutaneous abnormalities
  • decreased resilience & elasticity of the skin leading to a premature aged appearance
  • loose skin, sagging over the face & trunk
  • superior visual field defect
  • face, hands, feet, joints, & torso may be differentially affected
• variable clinical manifestations
  • gastrointestinal diverticula
  • hernia
  • genital prolapse
• rare manifestations:
  • pulmonary artery stenosis
  • aortic aneurysm
  • bronchiectasis
  • emphysema
• autosomal dominant form is relatively benign

Complications

• peripheral pulmonic stenosis

Management

• visual field testing
• blepharoplasty covered by insurance when the is a 10 degree difference in visual field testing

More general terms

• genetic disease of connective tissue
• genetic disease of the skin (genodermatosis)
• sign/symptom

More specific terms

• cutis laxa autosomal recessive type 3A; mental retardation-joint hypermobility-skin laxity
• cutis laxa type I
• cutis laxa type II or cutis laxa with bone dystrophy
• De Barsy syndrome
• mid-dermal elastolysis
• neonatal cutis laxa with marfanoid phenotype
• X-linked cutis laxa; occipital horn syndrome

Database

• OMIM: https://mirror.omim.org/entry/123700