Dyskeratosis congenita natural history, complications and prognosis

Complications include:

• Conjunctivitis, blepharitis, lacrimal duct stenosis, and pterygium
• Mandibular hypoplasia, osteoporosis, avascular necrosis, and scoliosis
• Cirrhosis
• Bone marrow failure – infections, bleeding
• Pulmonary fibrosis
• Dysphagia, dysuria, phimosis, and epiphora – due to constriction and stenosis can occur at the sites of leukoplakia
• Increased risk of malignancy – increased prevalence of malignant mucosal neoplasms, particularly squamous cell carcinoma of the mouth, nasopharynx, esophagus, rectum, vagina, or cervix. These often occur within sites of leukoplakia. The prevalence of squamous cell carcinoma of the skin is also increased.
• Death – due to infections, bleeding

Prognosis of the disease is poor with a mean survival of 30 years. Prognosis is worse for X-linked and autosomal recessive forms compared to autosomal dominant form.

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