What is Darier's disease?


#1

Darier’s Disease:

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 (seborrhoeic) areas: midchest, face, behind the ears.
-The palms show pits.
-Nails have longitudinal white or red nail stripes.
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.