Dyskeratosis Congenita Flashcards
1
Q
What is the pattern of inheritance for dyskeratosis congenita?
A
X linked recessive = DKC1
other genes can be AD or AR
2
Q
What are the clinical features of DC?
A
- IUGR
- Dev’t delay
- Short stature
- Lacy reticular pigmentation of skin*
- Dystrophic fingernails or toenails*
- Premature graying of hair
- Hair loss
- Oral leukoplakia*
- Squamous cell cancer of head and neck
- Pulmonary fibrosis
- Osteopenia
- Hypogonadism
- Bone marrow failure*
