Dyskeratosis Congenita

#dyskeratosiscongenita #dermatology #skindisease #skindisorder #pediatricdermatology

Introduction - 01:52
Epidemiology - 03:52
Pathogenesis - 05:56
Clinical Features - 13:58
Clinical Features: Nails - 15:50
Clinical Features: Skin - 16:21
Clinical Features: Mucosa - 19:04
Histopathology - 21:51
Clinical Features: Complications - 23:37
Differential Diagnosis - 26:38
Investigations - 27:51
Management - 29:35
Further Reading - 31:31
End - 32:42

Further Reading:

1. Chapter 67 – Genetic Defects of Nails and Nail Growth – Dyskeratosis Congenita. In: Rooks Textbook of Dermatology, 10ed. Pg-67.11, Griffiths C et al.

2. Chapter 67 – Disorders of Hyperpigmentation – Dyskeratosis Congenita. In: Bolognia’s Dermatology, 5ed. Pg-1144, Weston KG et al.

3. Chapter 77 – Hypermelanosis – Dyskeratosis Congenita. In: Fitzpatrick’s Dermatology, 9ed. Pg-1353, Rodrigues M et al.

4. Neri Morales C, Cuestas D, Ángel F, Ilelaty Urbano FA, Rodríguez PA, Brito JA, Téllez D, Fernández I, Celis Regalado L. Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists. Arch Dermatol Res. 2024 Jun 28;316(7):438.

5. Fernández García MS, Teruya-Feldstein J. The diagnosis and treatment of dyskeratosis congenita: a review. J Blood Med. 2014 Aug 21;5:157-67. doi: 10.2147/JBM.S47437. PMID: 25170286; PMCID: PMC4145822.

Видео Dyskeratosis Congenita канала SkinSire