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Congenital Dyskeratosis

definition

Dyskeratosis congenita is a rare degenerative disorder, characterized by skin pigmentation, atrophic nails, leucoplakia and bone marrow failure. The skin shows reticulate hyperpigmentation affecting the flexures, particularely the neck, axillae and the inner upper thighs. Progressive nail dystrophy with longitudinal ridging and raised white patches most commonly presenting in the mouths are associated. Patients may also present with sparse or absent hair, fragile bones, underdevelopped testis, and dental abnormalities. Dyskeratosis congenita is more prevalent among males then females and an X-linked recessive inheritance is the most common form, although cases of autosomal recessive and autosomal dominant inheritance have been recorded. An increased risk of malignancy (usually squamous carcinoma arising on mucous membranes at sites of leukoplakia) has been reported. Most deaths in the X-linked form are due to haematological complications or malignancy.

synonyms

Congenital Dyskeratosis, Zinsser-Cole-Engman Syndrome, Dyskeratosis Congenita

UMLS

Cole-Engmann-Zinsser syndrome, Congenital dyskeratosis, Dyskeratosis congenita, Zinsser-Cole-Engman syndrome, Zinsser-Cole-Engmann syndrome

images

5 images found for this diagnose localisation: feet, diagnosis: Congenital Dyskeratosis localisation: auricle, diagnosis: Congenital Dyskeratosis localisation: knee, diagnosis: Congenital Dyskeratosis localisation: hands, diagnosis: Congenital Dyskeratosis localisation: legs, diagnosis: Congenital Dyskeratosis