Histological characterization of Darier's disease in Tunisian families.
BACKGROUND
Darier's disease (OMIM 124200) is an autosomal-dominant skin disorder characterized by warty papules and plaques in seborreheic areas, palmo-plantar pits and distinctive nail abnormalities. The disease has complete penetrance in adults and variable expressivity. It is caused by mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase type 2 isoform (SERCA2).


OBJECTIVE
We report histological investigations of six unrelated Tunisian families including 15 affected individuals with Darier's disease mutations.


RESULTS
The typical histological features of Darier's disease have been observed in the 15 patients. Variable histological features have been observed among Tunisian patients ranging from mild to moderate lesions of Darier's disease. A significant correlation has been observed between the clinical presentation of the Darier's disease (mild or moderate) and the intensity of the histological features. Isolated acral form of Darier's disease was seen in one case. Two distinct original associations have been observed: Darier's disease/pemphigus vulgaris in one patient and Darier's disease/ichtyosis in the other patient.


CONCLUSIONS
Our findings confirmed the clinical heterogeneity of Darier's disease on the basis of histological study. The intensity of the histological features could be closely correlated to the severity of Darier's disease clinical presentation.
Kassar
S
S
Department of Pathology, Institut Pasteur de Tunis, Tunis, Tunisia. selma_kassar@yahoo.fr
Tounsi-Kettiti
H
H
Charfeddine
C
C
Zribi
H
H
Bchetnia
M
M
Jerbi
E
E
Mokni
M
M
Ben Osman
A
A
Abdelhak
S
S
Boubaker
S
S
D007644:Darier Disease / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics; D012720:Severity of Illness Index; D014416:Tunisia
D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human