1.A case of dyskeratosis congenita.
Ji Whan HAN ; Jong Woo BAE ; Woo Gun CHOI ; Hack Ki KIM ; Kyong Su LEE
Korean Journal of Hematology 1991;26(2):425-428
No abstract available.
Dyskeratosis Congenita*
2.A Case of Dyskeratosis Congenita in a Woman.
Chi Yeon KIM ; Tae Heung KIM ; Tae Jin YOON
Korean Journal of Dermatology 2001;39(10):1162-1165
No abstract available.
Dyskeratosis Congenita*
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Female
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Humans
5.A Case of Familial Telangiectasia of Face.
Korean Journal of Dermatology 1977;15(4):459-463
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
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Bloom Syndrome
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Dyskeratosis Congenita
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Humans
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Ichthyosis Vulgaris
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Leg
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Parturition
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Siblings
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Telangiectasis*
6.Dyskeratosis Congenita.
Sangho OH ; Byoung Dae KIM ; Dong Hoon LEE ; Kwang Hoon LEE
Korean Journal of Dermatology 2003;41(3):377-380
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
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Bone Marrow
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Dermis
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Dyskeratosis Congenita*
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Ectodermal Dysplasia
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Humans
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Hyperpigmentation
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Leukoplakia
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Leukoplakia, Oral
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Male
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Mouth
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Siblings
7.The study of genetic instability in patients with Dyskeratosis congenital.
Yuan LI ; Xin ZHAO ; Yang LI ; Guangxin PENG ; Jianping LI ; Wenrui YANG ; Zhijie WU ; Lin SONG ; Lei YE ; Huihui FAN ; Kang ZHOU ; Liping JING ; Qiang LIU ; Fengkui ZHANG ; Li ZHANG
Chinese Journal of Hematology 2015;36(9):770-774
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
9.Dyskeratosis Congenita in a Girl.
Jun Sun YI ; Hoon KOOK ; Hee Jo PAIK ; So Youn KIM ; Ik Sun CHOI ; Suk Joo KIM ; Kyoung Ran SOHN ; Ho Song NAM ; Tai Ju HWANG
Korean Journal of Pediatric Hematology-Oncology 2003;10(2):293-298
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
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Bone Marrow
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Child, Preschool
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Dyskeratosis Congenita*
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Female*
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Humans
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Leukoplakia
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Mortality
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Mucous Membrane
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Oxymetholone
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Prednisolone
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Skin
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Skin Pigmentation
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Toes
10.A Case of Dyskeratosis Congenita.
Dai Ho KIM ; Hyun Ah KANG ; Hyun Jeong PARK ; Chung Won KIM ; Hyung Ok KIM
Annals of Dermatology 2000;12(1):56-59
Dyskeratosis congenita is a rare genodermatosis of ectodermal dysplasia, which is characterized by the diagnostic triad consisting of reticulated hyperpigmentation, dystrophic nails, and leukoplakia. There is a predisposition to malignancy, particularly at sites of leukoplakia. Bone marrow failure can occur in about a half of the cases. A 16-year-old boy was presented with asymptomatic reticulated pigmentation of the neck and nail dystrophy. The patient also had leukoplakia on the tongue, nasolacrimal duct obstruction and cataract. The histopathological findings taken from the reticulated lesion were consistent with poikiloderma atrophicans vasculare. These clinical and histopathological findings were typical features of dyskeratosis congenita.
Adolescent
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Bone Marrow
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Cataract
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Dyskeratosis Congenita*
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Ectodermal Dysplasia
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Humans
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Hyperpigmentation
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Leukoplakia
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Male
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Nasolacrimal Duct
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Neck
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Pigmentation
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Tongue