True about Dyskeratosis congenita -a) Pancytopeniab) Nail dystrophyc) Hyperkeratosisd) X linkede) Leukoplakia

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