Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

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.

Thrombocytopenia

A reduction in the number of circulating thrombocytes.

Total: 6

(per page)

PMID (PMCID)
24114504	MALE
	Vitreous hemorrhage secondary to retinal vasculopathy in a patient with dyskeratosis congenita.
	Finzi A, Morara M, Pichi F, Veronese C, Ciardella AP. Int Ophthalmol. 2014;34(4):923-6.
	Medical history was significant for dyskeratosis congenita associated with thrombocytopenia.
20079002	MALE
	[Clinical and genetic characteristics of a patient with dyskeratosis congenita].
	Li JG, Li Y, Lin ZM, Ma ZH, Li JH, Liu R, Shi XD, Yang Y, Wang TY. Zhonghua Er Ke Za Zhi. 2009;47(11):867-70.
	To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia.
15843075	MALE
	Peripheral neuropathy--a novel finding in dyskeratosis congenita.
	Ip P, Knight R, Dokal I, Manzur AY, Muntoni F. Eur J Paediatr Neurol. 2005;9(2):85-9.
	He subsequently developed bleeding tendency, thrombocytopenia and hypocellularity on bone marrow examination leading to a diagnosis of dyskeratosis congenita.
12634734	FEMALE	Child
	Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita.
	Gungor T, Corbacioglu S, Storb R, Seger RA. Bone Marrow Transplant. 2003;31(5):407-10.
	We describe the treatment of a 10-year-old girl with autosomal recessive Dyskeratosis congenita (DC), neutropenia, thrombocytopenia and combined immunodeficiency by nonmyeloablative hematopoietic stem cell transplantation.
6233693	MALE
	Bone marrow failure in dyskeratosis congenita.
	Hanada T, Abe T, Nakazawa M, Aoki Y, Uyeno K. Scand J Haematol. 1984;32(5):496-500.
	We report a case of dyskeratosis congenita ( DCG ) with neutropenia, lymphocytopenia and thrombocytopenia.
6894487	MALE	Child
	Thrombocytopenia: first symptom in a patient with dyskeratosis congenita.
	De Boeck K, Degreef H, Verwilghen R, Corbeel L, Casteels-Van Daele M. Pediatrics. 1981;67(6):898-903.
	The diagnosis of dyskeratosis congenita--although it is a rare disease--should be considered in every child first seen with aplastic anemia or thrombocytopenia.