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Descriptor English: Dyskeratosis Congenita
Descriptor Spanish: Disqueratosis Congénita
Descriptor disqueratosis congénita
Entry term(s) disqueratosis congénita ligada a X
disqueratosis congénita ligada al X
síndrome de Zinsser-Cole-Engman
Scope note: Síndrome recesivo, predominantemente vinculado a X, caracterizado por una triada de: pigmentación cutánea reticular, distrofia ungueal, y leucoplasia de membranas mucosas. También pueden presentarse anomalías orales y dentarias. Entre las complicaciones hemos de considerar: la predisposición a malignizar y la afectación de la medula ósea, con pancitopenia (Traducción libre del original: Int J Paediatr Dent 2000 Dec;10(4):328-34). La forma vinculada a X también se conoce como síndrome de Zinsser-Cole-Engman, y tiene relación con el gen que codifica una proteína altamente conservada denominada disquerina.
Descriptor Portuguese: Disceratose Congênita
Descriptor French: Dyskératose congénitale
Entry term(s): 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(s): 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D019871
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 98
History Note: 98
DeCS ID: 33362
Unique ID: D019871
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1998/01/01
Date of Entry: 1997/06/20
Revision Date: 2015/06/18
Dyskeratosis Congenita - Preferred
Concept UI M0029508
Scope note 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.
Preferred term Dyskeratosis Congenita
Zinsser-Cole-Engman Syndrome - Narrower
Concept UI M0385213
Preferred term Zinsser-Cole-Engman Syndrome
Entry term(s) 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



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