(Elastinolysis)

Rare. Hereditary or acquired pathology of the connective tissue involving the skin and organs rich in elastin: the skin is wrinkled, abundant and hangs because it has no elasticity. 

Its genetics is complex:

- :autosomal dominant transmission of mutation of the ELN gene coding for elastin or the FBLN5 gene coding for fibuline . Mild skin damage  but sometimes associated with cardiovascular abnormalities (heart valves), lung (emphysema) or gastro-intestinal diverticula.

- autosomal recessive transmission: the structure of fibuline is affected

• type I (ARCL1) (gene EFEMP2 on 11q13 or FBLN5 on 14q31) [MIM 219 100, 614 437]: severe form with systemic impairment and early complications: pulmonary atelectasis and early  emphysema  (childhood), vascular anomalies (aortic or pulmonary stenosis if mutation of  FBLN5, aortic dilation and tortuosity of vessels  if mutation of FBLN4), diverticula of hollow organs (digestive and genitourinary), sometimes arachnodactyly and bone fragility. The tortuosity of the carotid arteries can cause a syndrome of loss of baroreflex with hypertensive crises, vasospasm, 'thunderclap' headaches: this complication responds well to prophylactic treatment with clonidine. 
• type II (ARCL2 or Debré type)  (genes ATP6VOA2 on 12q24.31 or PYCR1 on 17q25.3) [MIM 219 200, 612 940]: variable severity: from a simple wrinkled skin to the classic form which includes, in addition to the skib anomalies:

(1)  growth retardation - pre and post natal

(2) facial dysmorphism: downslanting palpebral fissures, broad nose with  anteverted nares, big ears, small mouth

(3) ocular abnormalities: strabismus, myopia

(4) ligamentous hyperlaxity with dislocation of hip

(5) osteoporosis

(6) cardiac anomalies and pulmonary emphysema are rare

(7) sometimes developmental retardation  with microcephaly and brain abnormalities

• type III (ARCL3 or De Barsy syndrome - see this term) [MIM 219 150]

- X-linked recessive form

- sporadic forms

Skin healing is normal unlike what happens in Ehlers-Danlos syndrome. 

There is an acquired form which is often preceded by localized or diffuse urticaria, angioedema, skin inflammation.

Anesthetic implications: 

Difficult venous access. Evaluate lung function. Echocardiography.

References : 

-        Pandey R, Garg R, Manikandan R, Jyotsna P, Vanlal D, Singh SA. 
Perinanesthetic management of generalized congenital cutis laxa syndrome associated with pulmonary stenosis undergoing inguinal hernia repair. 
Pediatr Anesth 2008; 18: 907-9.

-         Rajapakse T, Mineyko A, Chee C, Subramaniam S, Dicke F, Bernier FP, Kirton A. 
Baroreflex failure, sympathetic storm, and cerebral vasospasm in Fibulin-4 Cutis laxa. 
Pediatrics 2014; 133:e1396-1400.

Updated: June 2017