Sapere riconoscere la discheratosi congenita

Ginevra was examined at age 14 for neurological and inflammatory symptoms (paresthesia, muscle weakness and xerostomia). The clinical picture remained unclear until the discovery of severe onychodystrophy, which had been hidden for years by nail polish. This key clinical sign, combined with telomere analysis, led to the correct diagnosis of Dyskeratosis congenita.