By Disease Name > Dyskeratosis Congenita

Dyskeratosis Congenita

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mostly X-linked recessive (therefore males); presents in first decade

 

clinical:

first decade triad:
1.poikiloderma that results in reticulate hyperpigmentation
2.pterygium, atrophic, or absent nails (may be misdiagnosed as twenty nail dystrophy)
3.premalignant leukoplakia of tongue, buccal mucosa
second decade Fanconi type pancytopenia therefore look for potential bone marrow donor as soon as diagnosis is made (with secondary infection, hemorrhage)
third decade malignant neoplasms
palmoplantar keratoderma
prognosis:  death in 20-30% secondary to malignancy (usually SCC), GI hemorrhage, or opportunistic infection
only potential long-term treatment option = bone marrow transplant
ddx:  Fanconis syndrome, chronic GVHD, Rothmund-Thompson syndrome, Pachyonychia Congenita