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cutis laxa; elastolysis; loose skin; pachydermatocele
Droopy eyelid.
Pathology:
1) connective tissue disorder
1) reduced elastin mRNA levels
2) deficient elastic fibers in dermis
3) diminshed skin resilience
4) 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) [2]
Clinical manifestations:
1) cutaneous abnormalities
a) decreased resilience & elasticity of the skin leading to a premature aged appearance
b) loose skin, sagging over the face & trunk
c) superior visual field defect
d) face, hands, feet, joints, & torso may be differentially affected
2) variable clinical manifestations
a) gastrointestinal diverticula
b) hernia
c) genital prolapse
3) rare manifestations:
a) pulmonary artery stenosis
b) aortic aneurysm
c) bronchiectasis
d) emphysema
4) autosomal dominant form is relatively benign
Complications:
- peripheral pulmonic stenosis
Management:
1) visual field testing
2) blepharoplasty covered by insurance when the is a 10 degree difference in visual field testing
Related
hyperextensible skin
Specific
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
General
genetic disease of connective tissue
genetic disease of the skin (genodermatosis)
sign/symptom
Database Correlations
OMIM 123700
References
- Harrison's Principles of Internal Medicine, 14th ed.
Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 1301
- OMIM :accession 123700