Dyskeratosis congenita (Q60666)
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Dyskeratosis congenita (DC) is a multisystem disorder characterised by the mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. A variety of other abnormalities have been reported (dental, gastrointestinal, genitourinary, hair greying/loss, immunological, neurological, ophthalmic, pulmonary and skeletal). Bone marrow (BM) failure is the principal cause of early mortality with an additional predisposition to malignancy and fatal pulmonary complications.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1531033936 |
||
| English | Dyskeratosis congenita |
Dyskeratosis congenita (DC) is a multisystem disorder characterised by the mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. A variety of other abnormalities have been reported (dental, gastrointestinal, genitourinary, hair greying/loss, immunological, neurological, ophthalmic, pulmonary and skeletal). Bone marrow (BM) failure is the principal cause of early mortality with an additional predisposition to malignancy and fatal pulmonary complications. |
Statements
CID11:ID_1531033936
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dki-india-ID_1531033936
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Concluído
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13 August 2026
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