No abstract available.
Dyskeratosis Congenita*

No abstract available.
Dyskeratosis Congenita* ; Female ; Humans

Dyskeratosis Congenita/therapy* ; Humans

Dyskeratosis Congenita ; Dermoscopy

A case of familial telangiectasia of face resembling lupus erythematosus but no having other involved symptoms, except ichthyosis vulgaris of lower legs in all 4 sisters, appeared on 8 months through 2 years after birth is reported Authors suggest this case to be simplified congenital telangiectasia of face, because of not consisted with preexistiong various diseases such as Bloom's syndrome, Ataxia-Telangiectasia, Rothmund-Thomsons' Syndrome, Dyskeratosis congenita, and Cockayne's syndrome, which show the familial telangiectasia of face.
Ataxia Telangiectasia ; Bloom Syndrome ; Dyskeratosis Congenita ; Humans ; Ichthyosis Vulgaris ; Leg ; Parturition ; Siblings ; Telangiectasis*

Dyskeratosis congenita is a rare multisystemic genodermatosis of ectodermal dysplasia, and is characterized by the diagnostic triad consisting of reticulated hyperpigmentation, dystrophic nails, and leukoplakia. Complications such a malignancy and bone marrow involvement will be predisposition. A 44-year-old male was presented with reticulated hyperpigmentation, nail dystrophy, oral leukoplakia, mild hyperkeratosis of the palms and soles, and short stature. His brothers were presented with reticulated hyperpigmentation and nail dystrophy, and underwent a surgical operation due to oral cavity cancer. The histopathological findings taken from the reticulated lesion showed epidermal thinning and a mild inflammatory cell infiltration with melanophages in the dermis. We report a typical case of dyskeratosis congenita in a male with family history.
Adult ; Bone Marrow ; Dermis ; Dyskeratosis Congenita* ; Ectodermal Dysplasia ; Humans ; Hyperpigmentation ; Leukoplakia ; Leukoplakia, Oral ; Male ; Mouth ; Siblings

OBJECTIVETo investigate the genetic instability in patients with Dyskeration congenita.

METHODSThe spontaneous chromosome instability of lymphocytes from 4 DC patients, 29 FA patients and 24 healthy volunteers was assessed with comet assay. The percent of DNA in comet head (HeadDNA%）, the percent of DNA in comet tail (TailDNA%）, tail moment (TM), olive tail moment (OTM), the comet cell percentage (CCP) were compared between groups. And the results of MMC test, PNH clones and karotype were analysed additionally. The correlation between TM, OTM, CCP and the severity degree of bone marrow failure in DC group were evaluated.

RESULTS①PNH clones and karotype abnormalities were not found in 4 DC patients. ②TM (6.77 ± 0.90), OTM（6.19 ± 0.80) and CCP [(46.00 ± 5.03) %] in DC were significantly higher than those in normal control group [0.61 ± 0.49, 0.66 ± 0.42, (5.91 ± 3.19)%, P<0.05], however, not distinguished from FA patients [7.81 ± 3.58, 6.65 ± 2.21, (56.03 ± 13.47) %, P ≥ 0.05]. The aberrant cell percent at the MMC concentration of 80 μg/L in DC group was significantly lower than that in FA group [(21.00 ± 3.16) % vs (31.97 ± 6.33)%, P=0.003]. ③The correlation between TM, OTM, CCP and the severity of bone marrow failure in DC group were not found (P>0.05).

CONCLUSIONDC patients were of significantly increased genetic instability and normal DNA repair, which was different from that in FA patients. And there was no correlation between the degree of genetic instability and the severity of bone marrow failure in DC patients presenting as aplastic anemia.

Case-Control Studies ; Chromosomal Instability ; Comet Assay ; Dyskeratosis Congenita ; genetics ; Fanconi Anemia ; genetics ; Humans ; Lymphocytes ; Pancytopenia

Dyskeratosis Congenita/genetics* ; Enterocolitis/genetics* ; Fetal Growth Retardation ; Humans ; Intellectual Disability/genetics* ; Microcephaly/genetics*

Dyskeratosis congenita (DC) is a rare genetic disorder encompassing abnormal skin pigmentation, dystrophic nails, leukoplakia of mucous membranes and others. Bone marrow failure is the cause of early mortality. Moreover, DC is known for its predisposition to malignancy. X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. We describe here a rare case of DC in a 4-year-old girl showing dark skin, dystrophic toe nails, and mild bone marrow failure. Autosomal recessive disease was suggested as the patient is female, and tests for DKC1 and hTR mutations were negative. Intermittent treatment with oxymetholone and prednisolone for about 26 months resulted in stable hemoglobin and platelet response.
Blood Platelets ; Bone Marrow ; Child, Preschool ; Dyskeratosis Congenita* ; Female* ; Humans ; Leukoplakia ; Mortality ; Mucous Membrane ; Oxymetholone ; Prednisolone ; Skin ; Skin Pigmentation ; Toes

OBJECTIVETo analysis the clinic and genotype in two Chinese patients with Dyskeratosis congenita (DC).

METHODSThe two patients were characterized by mucocutaneous abnormalities (abnormal nails, lacey reticular pigmentation, and oral leukoplakia), bone marrow failure. They were diagnosed with DC. DC genes were amplified by polymerase chain reaction (PCR), including DKC1, TERT, TERC, TINF2, NOP10, NHP2, then DNA sequencing was performed for abnormal exons.

RESULTSAn abnormal peak was found in exon 6 of TINF2 gene of the two patients. DNA sequencing showed a 845G→A transition in TINF2 gene in the two patients.

CONCLUSIONWe should think about DC if the young patients with mucocutaneous abnormalities and marrow failure. TINF2 c.845G→A(R282H) does exist in the two patients. It is reported in China for the first time.

Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; Dyskeratosis Congenita ; diagnosis ; genetics ; Exons ; Female ; Humans ; Infant ; Male ; Telomere-Binding Proteins ; genetics