[MIM 275 630]

(Ichthyosiform erythroderma  with vacuolization of leukocytes, Dorfman-Chanarin ichthyosis disease)

Very rare. Autosomal recessive transmission of a mutation in the ABHD5 gene (ABHydrolase Domain containing 5 on 3p21) encoding for a protein  activating the ATL (Adipose Triglyceride Lipase) enzyme involved in the metabolism of triglycerides. This causes a non-bullous congenital ichthyosiform erythroderma associated with lipid overload resulting among others in the presence of lipid vacuoles in circulating leukocytes (Jordan anomaly). 

Clinical manifestations: 

-         ichthyosis: fragile skin, risk of hypothermia

-         steatosis (progress to micronodular cirrhosis), cholestasis,. 

-         myopathy caused by lipid overload that can lead to moderate elevation of CPK

-         mental retardation, sometimes deafness and cataract. 

The skin keratinization disorder prevents skin photosynthesis of vitamin D by UV rays, and therefore represents a risk of rachitism: vitamin D supplementation is necessary.

Anesthetic implications: 

risk of hypothermia. Fragile skin and difficulty to fasten the ECG electrodes and dressings. Risk of acute steatohepatitis. Monitor hepatic function (hemostasis). In case of hypertriglyceridemia, it is wise to avoid the use of propofol by continuous infusion.

References : 

•    Gottschling S, Larsen R, Meyer S, Graf N, Reinhard H. 
  Acute pancreatitis induced by short-term propofol administration. 
  Pediatr Anesth 2005; 15: 1006-8.
•    Bestas A, Bolat E, Bayar MK, Erhan OL. 
  The anesthetic management of a patient with Dorfman-Chanarin syndrome. 
  MEJ Anesth 2011; 21: 437-9.
•    Barraud C, Cano A, Boulay C, Milh M, Bollini G, Chabrol B. 
  Rachitisme carentiel compliquant une maladie de Chanarin-Dorfman. 
  Arch Pédiatr 2015 ; 22 : 414-7

Updated: August 2019