Dyskeratosis congenita

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Dyskeratosis congenita Classification and external resources
ICD-10	Q82.8
ICD-9	757.39
OMIM	305000
DiseasesDB	30105
eMedicine	derm/111
MeSH	D019871

Dyskeratosis congenita (DKC) is a rare progressive bone marrow failure syndrome characterized by cutaneous pigmentation, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia and in most cases testicular atrophy. People afflicted with this are also highly susceptible to developing cancer.

[edit] Causes

DKC is a congenitally inherited disease which results from genetic mutations in telomerase-associated proteins, such as dyskerin.^[1]

[edit] References

v • d • e Congenital malformations and deformations of integument (Q80-Q84, 757) Congenital ichthyosis Epidermolytic hyperkeratosis - Harlequin type ichthyosis - Ichthyosis lamellaris - Ichthyosis vulgaris - Netherton syndrome - X-linked ichthyosis - Zunich-Kaye syndrome Epidermolysis bullosa Epidermolysis bullosa simplex - Epidermolysis bullosa dystrophica Other skin disease Hereditary lymphedema - Mastocytosis - Meleda disease - Naegeli syndrome - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - EEM syndrome - Hay-Wells syndrome - Kindler syndrome - Port-wine stain - Cutis laxa - Darier's disease - Pseudoxanthoma elasticum - Keratosis pilaris DNA repair-deficiency disorder: Bloom syndrome - Rothmund-Thomson syndrome - Xeroderma pigmentosum Nail disease Leukonychia - Pachyonychia congenita Malformations of breast Amastia - Accessory breast - Athelia - Supernumerary nipple - Micromastia Hair disease Monilethrix - Sabinas brittle hair syndrome see also non-congenital (L, 680-709)