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X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene.
Indian J DermatolOktem A +4 more
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Hematology, 2011
Abstract Dyskeratosis congenita (DC) is a multisystem inherited syndrome exhibiting marked clinical and genetic heterogeneity. In its classic form, it is characterized by mucocutaneous abnormalities, BM failure, and a predisposition to cancer. BM failure is the principal cause of premature mortality.
Charles E. Schwartz +2 more
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Abstract Dyskeratosis congenita (DC) is a multisystem inherited syndrome exhibiting marked clinical and genetic heterogeneity. In its classic form, it is characterized by mucocutaneous abnormalities, BM failure, and a predisposition to cancer. BM failure is the principal cause of premature mortality.
Charles E. Schwartz +2 more
+7 more sources
Seminars in Hematology, 2006
Dyskeratosis congenita (DC) is a rare inherited multi-system disorder. Although DC is classically characterized by mucocutaneous features, the vast majority of patients develop hematologic abnormalities, and in its occult form the disease can present as aplastic anemia.
Tom, Vulliamy, Inderjeet, Dokal
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Dyskeratosis congenita (DC) is a rare inherited multi-system disorder. Although DC is classically characterized by mucocutaneous features, the vast majority of patients develop hematologic abnormalities, and in its occult form the disease can present as aplastic anemia.
Tom, Vulliamy, Inderjeet, Dokal
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Dermatologic Clinics, 1995
Dyskeratosis congenita is a rare genodermatosis. Malignant deterioration and hematologic complications are well-described features of this syndrome. Correct recognition is essential for proper management. A review of diagnostic considerations and treatment guidelines is presented.
R A, Drachtman, B P, Alter
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Dyskeratosis congenita is a rare genodermatosis. Malignant deterioration and hematologic complications are well-described features of this syndrome. Correct recognition is essential for proper management. A review of diagnostic considerations and treatment guidelines is presented.
R A, Drachtman, B P, Alter
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Cellular and molecular life sciences : CMLS, 2003
Dyskeratosis congenita is an inherited skin and bone marrow failure syndrome. There are X-linked, autosomal dominant and autosomal recessive forms of the disease. The X-linked form is due to mutations in the DKC1 gene at Xq28. The encoded protein, dyskerin, is a component of both small nucleolar ribonuclear protein particles and the telomerase complex.
A, Marrone, P J, Mason
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Dyskeratosis congenita is an inherited skin and bone marrow failure syndrome. There are X-linked, autosomal dominant and autosomal recessive forms of the disease. The X-linked form is due to mutations in the DKC1 gene at Xq28. The encoded protein, dyskerin, is a component of both small nucleolar ribonuclear protein particles and the telomerase complex.
A, Marrone, P J, Mason
+5 more sources
Dyskeratosis congenita in a female
British Journal of Dermatology, 1994We report a 9-year-old Saudi girl with dyskeratosis congenita. In addition to the known manifestations of this disease, she also had the additional features of tufts of hairs on the limbs, and an early onset of keratinized basal cell papillomas on her trunk.
R K, Joshi +3 more
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Dyskeratosis congenita with pancytopenia
Clinical and Experimental Dermatology, 1985Summary Dyskeratosis congenita is a rare inherited disorder characterized by skin pigmentation, nail dystrophy, leukoplakia and a variable number of additional features. This paper describes a patient who developed a serious manifestation, pancytopenia, as well as obliterated lacrimal puncta, gingivitis and loss of dermatoglyphics.
H J, Dodd, S, Devereux, I, Sarkany
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Dyskeratosis congenita and telomerase
Current Opinion in Pediatrics, 2004Dyskeratosis congenita, a rare condition characterized by mucocutaneous abnormalities and bone marrow failure, is caused by inherited defects in the telomerase complex. Autosomal dominant dyskeratosis congenita is associated with mutations in the RNA component of telomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene ...
Monica, Bessler +2 more
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Archives of Dermatology, 1964
The 13th case of dyskeratosis congenita is reported. The many ectodermal and mesodermal abnormalities recorded in this syndrome are reviewed. The case reported is the first in a Negro and showed the previously unrecorded abnormalities: schizophrenia, scarring alopecia, and congenital malformation of the middle ear.
H, MILGROM, H L, STOLL, J T, CRISSEY
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The 13th case of dyskeratosis congenita is reported. The many ectodermal and mesodermal abnormalities recorded in this syndrome are reviewed. The case reported is the first in a Negro and showed the previously unrecorded abnormalities: schizophrenia, scarring alopecia, and congenital malformation of the middle ear.
H, MILGROM, H L, STOLL, J T, CRISSEY
openaire +2 more sources