A case report on a rare disease: dyskeratosis congenita

Journal of Clinical Medicine Research
Bethel ShiferawRadhames Ramos De Oleo

Abstract

Dyskeratosis congenita (DC) is a rare hereditary disorder characterized by bone marrow failure, cancer predisposition (11-fold increase compared to general population), ectodermal dysplasia (nail dystrophy, oral leukoplakia, and abnormal skin pigmentation) and other additional somatic abnormalities. A 22-year-old man presented with fever, chills, and a painful throat. Leukoplakia was noted on his tongue and some of his fingers and toe nails were markedly dystrophic. His skin seemed spotted with pigmentation on the anterior chest and neck. Patient reported family history of "blood disease" and leukemia. He was admitted for the management of neutropenic fever (102.9 °F, WBC: 940, ANC: 404, platelets: 21,000 and Hb: 9.2), and was put on broad spectrum antibiotics. A bone marrow biopsy revealed normocellular marrow with erythroid predominance and mild dyserythropoiesis. Chromosomal analysis indicated no numerical or structural chromosomal abnormalities. The fluorescence in situ hybridization report did not reveal any assay specific abnormalities. Viral marker for hepatitis and studies of autoimmune antibodies showed negative results. CT scan had shown splenomegaly. Patient was discharged after he has been fever and symptoms free, w...Continue Reading

Citations

Sep 29, 2020·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Manahel Mahmood AlSabbagh
Sep 16, 2020·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Manahel Mahmood AlSabbagh
Dec 21, 2018·BMJ Case Reports·Reena Kumari SharmaArchit Gupta
Aug 5, 2019·Trends in Genetics : TIG·Katherine I Farley-BarnesSusan J Baserga

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Methods Mentioned

BETA
X-ray
biopsy

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