[MIM 608 649]

(Congenital ichthyosis type 4)

Very rare form (< 1/106) of Ichthyosis Congenita encountered mainly in the Scandinavian countries. Autosomal recessive transmission of a mutation in the SLC27A4 gene (9q34.11) that codes for the FATP4 protein (fatty acid carrier protein 4)  that transports long-chain fatty acids into the cells. It seems that this protein plays an essential role in the formation of the intercellular matrix surrounding the keratinocytes in the stratum corneum of the epidermis: its absence causes a hyperproliferation of the stratum corneum of the skin with hyperkeratosis and desquamation.

Stages:

-        in utero: polyhydramnios with amniotic fluid containing debris (same image in the stomach), separation of the chorion of the amniotic sac

-        at birth: premature birth (between 30 and 34 weeks of gestation) the whole body including the face is covered with reddish, thick and grainy or paved skin; it is covered with peeling epidermis; the fingers and toes are bent due to skin thickening; there is often difficult breathing because of the debris present in the tracheo-bronchial tree and prematurity; the mortality is high

-        later: dry and hyperkeratotic skin, major pruritus; frequent skin infections; multiple allergies (asthma, food); blood eosinophilia and high IgE levels.

Anesthetic implications:

Multiple allergies. Difficult breathing at birth. Difficult peripheral venous access. Difficulties to secure catheters and endotracheal tubes  as hyperkeratosis reduces the stickiness of dressings.

References : 

-         Khnykin D, Ronneviq J, Johnsson M, Sitek JC, Blaas HG, Hausser I, Johanssen FL. 
Ichtyosis prematurity syndrome : clinical evaluation of 17 families with a rare disorder of lipid metabolism. 
J Am Acad Dermatol 2012; 66: 606-14.

-         Dereksson K, Kjartansson S, Hjartardottir H, Arngrimsson R. 
Ichtyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia. 
BMJ Case Reports 2012 doi 10.1136/bcr-2012-5823

Updated: March 2019