True about Dyskeratosis congenita -a) Pancytopeniab) Nail dystrophyc) Hyperkeratosisd) X linkede) Leukoplakia
Correct Answer: abde
Description: Dyskeratosis congenita
It is characterised by mucous membrane leukoplakia, dystrophic nails, reticular hyperpigmentation and the development of aplastic anemia during chidhood.
The X-linked variety is due to mutations in the DKC1 (dyskeratin) gene; the more unusual autosomal dominant type is due to the muatation in hTERC, which encodes an RNA template, and hTERT, which encodes the catalytic reverse transcriptase, telomerase; these gene products cooperate in a repair complex to maintain telomere length.
Clinical features associated with dyskeratosis congenita are :-
Skin pigmentary abnormalities
Nail dystrophy
Leukoplakia
Epiphora
Cognitive/develpomemt delay
Pulmonay disease
Dental carries/tooth loss
Esophageal stricture
Hair loss/grey hair / sparse eyelashes
Hyperhydrosis
Intrauterine growth retardation
Category:
Pathology
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