Search on: KERATOSIS FOLLICULARIS 
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Descriptor English:   Darier Disease 
Descriptor Spanish:   Enfermedad de Darier 
Descriptor Portuguese:   Doença de Darier 
Synonyms English:   Acrokeratosis Verruciformis of Hopf
Darier-White Disease
Keratosis Follicularis  
Tree Number:   C16.320.850.190
C17.800.428.275
C17.800.827.190
Definition English:   An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES. 
History Note English:   2009 (1966) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   7811 
Unique Identifier:   D007644 

Occurrence in VHL: 		 

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