Dyskeratosis congenita history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Symptoms

Patients with DKC complain of

• Cutaneous pigmentation - hyper or hypo-pigmentation
• Premature graying of hair
• Dystrophy of the nails - ridging and longitudinal splitting
• Leukoplakia of the oral mucosa (patches on the tongue and inside the mouth)
• Continuous/excess lacrimation (due to atresia of the lacrimal ducts)
• Decreased libido (due to testicular atrophy in the male carriers).