dyskeratosis congenita


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dys·ker·a·to·sis con·gen·'i·ta

[MIM*305000]
nail dystrophy, oral leukoplakia, and reticular pigmentation of the skin, testicular atrophy with anemia progressing most commonly to pancytopenia; X-linked recessive inheritance, caused by mutation in the DKC1 gene encoding dyskenin on Xq.

dyskeratosis congenita

A rare X-linked or autosomal dominant disease characterized by dystrophic formation of the nails, oral leukoplakia, and hyperpigmentation of the skin. Affected patients may also suffer bone marrow failure, resulting in aplastic anemia or pulmonary fibrosis.

dyskeratosis congenita

A genetic syndrome in which the autosomal dominant form has mutations in TELOMERASE and features aplastic anaemia, nail dystrophy, oral leukoplakia and abnormal skin pigmentation. The TELOMERES are shorter than normal.
References in periodicals archive ?
These entities include dyskeratosis congenita, Diamond-Blackfan anemia, Fanconi anemia, Shwachman-Diamond syndrome, and severe congenital neutropenia.
Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.
Other rare diseases which can lead to persistent severe neutropenia including hemophagocytic syndrome, reticular dysgenesis and dyskeratosis congenita were discounted after an analysis of the bone marrow aspiration findings.
Other disorders to be considered in differential include psoriasis, dyskeratosis congenita and some of the ectodermal dysplasias.12 Diagnosis of Papillon-Lefevre Syndrome is made by a thorough clinical evaluation that includes a detailed patient history and identification of characteristic physical findings.
All the patients did not have premature graying, blood count abnormalities, or any mucocutaneous features of dyskeratosis congenita.{Figure 1}{Figure 2}
Only three cases of aplastic anaemia were diagnosed, of which one was due to inherited bone marrow failure syndrome, Dyskeratosis congenita.
Human diseases that include dyskeratosis congenita, aplastic anemia, and idiopathic pulmonary fibrosis have been genetically linked to mutations that negatively affect telomerase activity and/or accelerate the loss of telomere length.
Gemahsis' devastated mother Tamar Srondy has told how her young boy was diagnosed with a disease called dyskeratosis congenita - rare and progressive bone marrow failure syndrome.
Pulmonary cutaneous syndromes, such as sarcoidosis, Hermansky-Pudlak syndrome, tuberous sclerosis, neurofibromatosis, dyskeratosis congenita, scleroderma, systemic lupus erythematosus, and dermatomyositis, are reported to be associated with interstitial lung involvement (4).
Dyskeratosis congenita or Zinsser-Cole-Engman syn-dromeis is a rare inherited bone marrow failure syndrome (IBMFS) characterized by diagnostic triad of reticulated skin hyperpigmentation, nail dystrophy, and oromucosal leukoplakia (1).
A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999;402:551-5.
An extensive variety of cutaneous conditions bearing a resemblance to CARP were considered in the differential diagnosis, including acanthosis nigricans (AN), tinea versicolor, Darier disease, terra firma-forme dermatosis, prurigo pigmentosa, flagellate dermatosis, and dyskeratosis congenita. (1) A common challenge for practitioners is distinguishing CARP from similar dermatoses, particularly AN.