Dyskeratosis congenita

Dyskeratosis congenita is a multiple organ system hereditary disease typically found on skin and mucous membranes with the symptoms of abnormal skin pigmentation, nail dystrophy and leukoplakia. Dyskeratosis congenita is heterogeneous.

The symptoms usually appear in childhood, but the age at onset of the disease varies greatly.

Other anomalies reported include dental anomalies, gastrointestinal anomalies, genitourinary system, premature graying, hypotrichosis, immune deficiencies, neurological disorders, ophthalmic disorders, pulmonary disorders, skeletal disorders. Myelosuppression, a propensity to malignancy and fatal complications in the respiratory system are the major causes of early mortality.

Three characteristic features are poorly growing and abnormally shaped fingers and toenails (nail dystrophy), altered coloration of the skin (skin pigmentation), especially on the neck and chest, and whitish patches of the oral mucosa (leukoplakia).

Other symptoms vary depending on the appearance, which may vary greatly and may even be fatal if the bone marrow function is disturbed.