Dyskeratosis Congenita
Telomerase DISorder
Mnemonics- TELOMERx Disorder
T – Teeth abnormal and carious
E -Epiphora ( due to nasolacrimal duct obstruction )
L- Leucoplakia in oral cavity ( tongue and buccal mucosa)
O
M – Marrow failure ( severe aplastic anemia)
MDS
E – Excessive sweating from palm and sole
Rx – Androgen
HSCT
D- Dysplastic nail
I- Increased risk of pulmonary and hepatic fibrosis
Sorder- Skin Lacy reticular pigmentation.