Pseudoxanthoma elasticum

(Gronblad-Strandberg-Touraine, syndrome)

Rare (1/100,000). Sporadic cases or autosomal recessive transmission, rarely dominant, of mutations of the ABCC6 gene on the long arm of chromosome 16 (16p13.1), which codes for the  MRP6 transmembrane carrier expressed at the level of the liver and the kidney. The pathophysiology of the condition is unknown: observed anomalies of the elastic tissue with progressive calcification which causes their fragmentation.

Clinical picture:

-        skin lesions (which gave its name to the disease): appear in the 2nd decade of life: yellowish slightly raised bumps, bilateral, at the level of the neck ("chicken skin"), but also on the side of the neck, the inguinal and axillary flexural creases

-        eye damage: at ophthalmoscopy, aspect in 'peau d'orange', then appearance of  angioid striae (tears of the retinal Bruch's membrane that calcifies): intra-retineal bleeding, often progressive loss of vision

-        vascular lesions: due to calcification of the media of small and medium arteries, involvement of peripheral arteries (stenoses, early intermittent claudication); the involvement of the arteries of the gut causes digestive bleeding; early coronary artery disease and damage to the heart valves; stroke: recurring TIA ,  cerebral or leptomeningeal bleeding

The diagnosis is made in case of 3 major criteria or a major criterion and two minor criteria.

Major criteria:

1:        characteristic skin lesions

2:  histological appearance (sampling on injured skin)

3: characteristic ophthalmic lesions at ophthalmoscopy (after the age of 20 years)

Minor criteria:

1: typical histological appearance in healthy skin (calcifications, anomalies of the elastic tissue)

2: presence of affection among  1st degree relatives.

Treatment is symptomatic: statins for vascular impairment (local anti-inflammatory effect), antihypertensives, ophthalmologic monitoring.


Anesthetic implications:

although the disease is rarely expressed in childhood, check the total blood count and peripheral pulses; cautious use of NSAIDs (under the protection of a proton pump inhibitor); the 5-lead ECG monitoring (angina cases have been described in adolescents); avoid invasive blood pressure monitoring which is not necessary; avoid pressure shock; a case of difficult intubation has been reported in an adult patient.


References : 

-         Wilson-Krechel SL, Ramirez-Inawat RC, Fabian LW. 
Anesthetic considerations in Pseudoxanthoma elasticum
Anesth Analg 1981; 60: 344-7.

-        Levitt MW, Collison JM. 
Difficult intubation in a patient with pseudoxanthoma elasticum. 
Anaesth Intensive Care 1982 ; 10 : 62-4.

-        Clanet M, Chantraine F, Dewandre PY, Peeters P, Foidart JM, Brichant JF. 
Analgésie épidurale obstétricale et pseudoxanthome élastique : à propos d’un cas. 
Ann Fr Anesth Réanim 2011 ; 30 : 685-7.

-        Dibi A, El Fahime EL, Mouane N, Dafiri R, Bentahila A.
Pseudo-xanthome élastique: une cause rare dhémorragies digestives chez lenfant.
Arch Pédiatr 2016;23:591-4


Updated: June 2016