以舌背糜烂为首发表现的先天性角化不良1例

doi:10.13591/j.cnki.kqyx.2025.05.010

Abstract

Abstract:

Dyskeratosis congenita is a hereditary short telomere disease caused by mutations in telomerase-related genes. The classic clinical manifestations are oral leukoplakia, nail dystrophy, and skin pigmentation. This article reported a 7-year-old male child diagnosed with dyskeratosis congenita but with dorsal tongue erosion as the first manifestation. Genetic testing results confirmed DKC1 gene mutations and a literature review was performed.

Key words: dyskeratosis congenita, telomerase, erosion, DKC1

CLC Number:

R781.5

WANG Suli, WANG Wenxia. A case of dyskeratosis congenita with dorsal tongue erosion as the first manifestation[J]. Stomatology, 2025, 45(5): 376-379.

Figures/Tables 5

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References 27

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突变基因	编码产物	遗传方式	主要表型
DKC1	dyskerin	XLR	DC、HH、PF
TERT	TERT	AD AR	DC、AA、PF、LD、MDS、AML HH
TERC	TERC	AD	DC、AA、PF、LD、MDS、AML
NOP10	NOP10	AR	DC
NHP2	NHP2	AR	DC
TINF2	TIN2	AD	DC、HH、RS、PF
WRAP53	TCAB1	AR	DC、HH
CTC1	CTC1	AR	DC、CP
RTEL1	RTEL1	AD AR	PF、AA、LD、DC DC、HH
ACD	TPP1	AD AR	AA HH
PARN	PARN	AD AR	PF DC、HH
STN1	STN1	AR	CP
NAF1	NAF1	AD	PF、LD、MDS
POT1	POT1	AR	CP
ZCCHC8	ZCCHC8	AD	PF
MDM4	MDM4	AD	AA、HNSCC
RPA1	RPA1	AD	DC
DCLRE1B	Apollo	AR	DC、HH

A case of dyskeratosis congenita with dorsal tongue erosion as the first manifestation

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