What is Darier’s disease ?
Also called keratosis follicularis.
Was described at the beginning of the 20th century by the French dermatologist Jean Darier. At the time he had coined the condition follicular porospermosis (“Porospermose folliculaire”) -Is one of the most common genodermatosis and affects one person out of 30000.
It is inherited in an autosomal dominant pattern.
Cause/Etiology
The mutated gene codes for a calcium channel regulator called ATP2A2.
This gene encodes for SERCA Ca(2+)-ATPases, which are calcium pumps. *Acrokeratosis Verruciformis causes a mutation of the same gene and can be considered as a variant of Darier’s disease.
Presentation
On the skin, there are brownish follicular bumps which appear greasy and “dirty looking.”
The bumps appear around puberty in seborrheic areas: midchest, face, behind the ears.
The palms show pits.
Nails have longitudinal white or red nail stripes.
Longitudinal stripes on the nails (Darier’s disease)
What is the treatment ?
Local treatment with retinoids and keratolytics is quite disappointing.
Antibiotics and Antivirals may be used in case of infections. (Indeed widespread skin infections are more common)
Oral Acitretin seems to show the best results.
