[MIM 124 200]

( Follicular hyperkeratosis, Lutz-Darier-White disease)

Rare (1/50,000). Dermatosis of genetic origin. Autosomal dominant transmission of a mutation in the ATP2A2 gene (12q23-24.1.), coding for an isoform of a calcium pump located in the endoplasmic reticulum (SERCA2). The mutation causes an accumulation of intracellular Ca and abnormalities in the complexes responsible for cell adhesion. The clinical onset is usually between 6 and 20 years of age (peak at puberty). Keratotic papules appear mainly on the trunk but can spread to the face, the flexion creases, the scalp and palms and soles. They can regroup in thick, brownish and often smelly masses. Exposure to sun, heat or sweating aggravate the clinical picture. There are also rare bullous and hemorrhagic forms. Nail dystrophy: subungual hyperkeratosis, cracks, red and white longitudinal stripes. The mucous membranes are exceptionally affected. An association with psychiatric (depression, schizophrenia) or neurologic (epilepsy) problems has been observed.

Histology: dyskeratosis, suprabasal acantholysis, perivascular infiltration in the dermis.

Local treatment: cream with cortisone.

General treatment: local  antibiotics, acyclovir to prevent herpes superinfection, retinoid supplements.

Anesthetic implications : 

seizures ?, risk of depression of the hypothalamic-pituitary-adrenal axis (corticosteroids); side effects of retinoids: leukopenia, anemia, hypercalcemia and increase in intracranial pressure. Photosensitivity.

Références : 

-        Sharma R, Singh BP, Das SN. 
Anesthetic management of Cesarean section in a parturient with Darier’s disease. 
Acta Anaesthesiol Taiwan 2010 ; 48 : 158-9.

-         Celik T, Celik U, Donmezer C, Komur M et al. 
Cooccurrence of Darier’s disease and epilepsy : a pediatric case report and review of the literature. 
Case Reports in Pediatrics 2014; 831398, 3 pages

Updated: September 2019