Search on: ZINSSER-COLE-ENGMAN SYNDROME 
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Descriptor English:   Dyskeratosis Congenita 
Descriptor Spanish:   Disqueratosis Congénita 
Descriptor Portuguese:   Disceratose Congênita 
Synonyms English:   Congenita, X-Linked Dyskeratosis
Dyskeratosis Congenita, X Linked
Dyskeratosis Congenita, X-Linked
Syndrome, Zinsser-Cole-Engman
X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenitas
Zinsser Cole Engman Syndrome
Zinsser-Cole-Engman Syndrome  
Tree Number:   C15.378.190.223.500.750
C16.131.831.150
C16.320.322.108
C16.320.850.235
C17.800.804.150
C17.800.827.235
Definition English:   A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin. 
History Note English:   98 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   33362 
Unique Identifier:   D019871 

Occurrence in VHL: 		 

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