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Dyskeratosis congenita associated with three malignancies

✍ Scribed by C Baykal; A Kavak; P Gülcan; N Büyükbabani

Book ID: 104470256
Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 165 KB
Volume: 17
Category: Article
ISSN: 0926-9959
DOI: 10.1046/j.1468-3083.2003.00585.x

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✦ Synopsis

ABSTRACT

Dyskeratosis congenita is a rare inheritable disorder characterized by abnormalities of the skin, nails and oral mucosa. Aplastic anaemia resulting from bone marrow hypoplasia is a frequent cause of death. Squamous cell carcinoma developing from leukoplakia and visceral malignancies are other complications of the disease. We report here a case of dyskeratosis congenita in a man who developed three neoplasias of different systems over a period of many years. Squamous cell carcinoma and gastric adenocarcinoma manifested 17 years after the man was diagnosed with Hodgkin's disease.

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Dyskeratosis congenita (DC) is a rare hereditary disorder of skin which may be associated with aplastic anemia. The pattern of inheritance is X-linked recessive in most instances, but autosomal dominant and autosomal recessive types have been documented. Reticulated hyperpigmentation usually is the