18. Dyskeratosis congenita Flashcards
1
Q
Definition of Dyskeratosis Congenita
A
Uncommon disorder with great genetic heterogeneity
2
Q
Etiology of Dyskeratosis Congenita
A
Genetic
3
Q
Clinical features of Dyskeratosis Congenita
A
- Hyper-pigmentation, telangiectasias and atrophic skin areas-neck, chest and upper arm
- Oral lesions- Recurrent blisters, epithelial atrophy, and leukoplakia
- Malignant transformation of leukoplakia may occur
4
Q
Diagnosis of Dyskeratosis Congenita
A
History and clinical features
5
Q
Laboratory tests of Dyskeratosis Congenita
A
Histopathologic examination
6
Q
Differential diagnosis of Dyskeratosis Congenita
A
- White sponge nevus
- Pachyonychia congenita
- Epidermolysis bullosa
- graft versus host disease
7
Q
Treatment of Dyskeratosis Congenita
A
Supportive-multidisciplinary care
