Table I.

Clinical complications of dyskeratosis congenita and suggested monitoring. This is a general list and highlights topics discussed at the Workshop. Management of each patient with DC should be individualized.

System	Finding(s)	Clinical Complications	Suggested Monitoring/Therapy
Dermatologic	Nail dystrophy, skin pigmentation, thinning/early graying of hair, hyperkeratosis of palms/soles, adermatoglyphia, acrocyanosis	Increased skin cancer risk [30]	Annual exams by dermatologist Limit sun exposure Use sunscreen
Oral	Leukoplakia, erythematous patches, brown/black patches, short tooth roots, enlarged dental pulp chambers (taurodontism) [31]	Oral cancer	Annual cancer screening, bi- annual dental exams
Head and Neck		Squamous cell cancer [30]	Annual exams by an otolaryngologist, self- examination, early treatment
Gastrointestinal	Esophageal stenosis; liver fibrosis	Difficulty swallowing; sensitivity to androgens	Esophageal dilatation; monitor liver functions
Ophthalmologic	Excessive tearing (epiphora) due to lacrimal duct obstruction, ectropion, entropion, trichiasis, sparse eyelashes, optic nerve atrophy, retinal vessel fragility and hemorrhages, exudative retinopathy [32,12]	Corneal abrasion, infection, blindness (due to retinal abnormalities)	Symptomatic and annual exams
Neurologic	Cerebellar hypoplasia [33] Microcephaly	Variable, ataxia, learning difficulties	Supportive
Pulmonary	Pulmonary fibrosis	Variable, sometimes seen after bone marrow transplantation	Supportive, annual pulmonary function tests
Orthopedic	Osteoporosis, avascular necrosis of hips and shoulders	Fractures	Calcium and vitamin D supplementation, supportive care
Hematologic	Low blood counts, macrocytic red blood cells	Bone marrow failure; myelodysplastic syndrome	Consider bi-annual complete blood counts (more frequent if clinically indicated) Baseline bone marrow biopsy/aspiration at diagnosis, then consider annual bone marrow biopsy/aspiration and cytogenetics. Treatment should based on degree of bone marrow failure (see text)
		Leukemia	Disease-specific therapy with careful monitoring for treatment-related complications
Gynecologic	Pain or masses	Increased risk of anogenital cancer [30]	Annual gynecologic examinations and as needed