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Dyskeratosis congenita

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

Amegakaryocytic thrombocytopenia

Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.

Total: 1

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PMID (PMCID)
8502468	MALE	Infant, Newborn
	[Rare congenital forms of bone marrow deficiency].
	Revesz T, Kardos G, Schuler D. Orv Hetil. 1993;134(21):1147-50.
	Fanconi anaemia is most frequently diagnosed, while reticular dysgenesis, amegakaryocytic thrombocytopenia and dyskeratosis congenita occur exceptionally rarely.