Dyskeratosis Congenita, X-linked

Alternative Names

  • DKC
  • Zinsser-Cole-Engman Syndrome
  • DKCX
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

305000

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xq28

Description

Dyskeratosis congenita is a severe, multisystem bone marrow failure syndrome, with associated cutaneous and noncutaneous abnormalities. The triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia characterize dyskeratosis congenita. Other findings include learning difficulties or mild-to-moderate mental retardation, short stature, underdeveloped or undescended testes, and abnormal bone trabeculation or osteoporosis. Dyskeratosis congenita is a rare syndrome, with approximately less than 200 individuals reported in the literature, with 90% of patients being male. Dyskeratosis congenital is a serious and usually fatal disease. Death may occur due to carcinoma, hemorrhage, and sepsis.

Molecular Genetics

he candidate-gene region for X-linked dyskeratosis congenita was originally mapped to Xq28 and was further refined to a 1.4-Mb region in the distal end of Xq28. The DKC1 gene was subsequently positionally cloned as the result of the identification of a partial gene deletion in one male dyskeratosis congenita patient.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
305000.G.1United Arab EmiratesUnknownYes Abnormality of skin pigmentation; Nail d...NM_001363.5:c.5C>THomozygousX-linked, RecessiveKnight et al. 1999 Multiplex Emirati fa...

Other Reports

Egypt

Safa et al. (2001) reported a 40 year old Egyptian man with pulmonary disease and his symptom free 35 year old brother both presented with mucocutaneous lesions characteristic of dyskeratosis congenita. The family history of the patient disclosed that he had two younger brothers, one of whom had some pigmentation on the neck. One maternal uncle had died aged 36 from a gastric carcinoma and another had died also in his mid 30s from a "bleeding problem". A third brother was alive in his mid 40s but had chest problems, and a fourth, who had died aged 28 in a car accident, had some pigmentation on the neck. Three maternal aunts were alive and healthy and a fourth had had surgery for carcinoma of the cervix. The maternal grandmother, who died aged 72, might have had some pigmentation on the neck. The patient was married and had two healthy children aged 7 and 5 years. In the older brother chest imaging revealed generalised intralobular interstitial thickening and honeycombing. Pulmonary function tests showed a restrictive pattern. Open lung biopsy specimens of lung tissue showed various degrees of fibrosis consistent with usual interstitial pneumonia of chronic idiopathic pulmonary fibrosis. The younger brother was free of pulmonary lesions.

Iraq

Gutman et al. (1978) described two maternal male cousins in a Jewish Iraqi family with dyskeratosis congenita and megaloblastic bone marrow. One cousin had pancytopenia while the other had thrombocytopenia. The kindred displays a deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a beta-thalassemia trait. Chromosomal studies showed a 46XY karyotype in both cases; however, nonspecific numerical aberrations and structural abnormalities were found in the first and in the second case, polyploidy was seen in four of 60 cells.

United Arab Emirates

Galadari (1989) reported a 19-year-old male who presented with a history of nail changes since the age of 11 and skin changes since the age of 15. There was no relevant family history. The patient had multiple patches on his neck and chest with manifest poikilodermous changes. Incision biopsies from the poikilodermous area and from the white patch showed no atrophy, no vacuolation of basal cells, and no significant inflammatory infiltrate.

[Galadari E. Dyskeratosis congenital. Emirates Med J. 1989; 7:23-5.]

Revesz et al. (1993) reviewed the occurrence of rare congenital forms of aplastic anemias in the United Arab Emirates and concluded that dyskeratosis congenita occurs exceptionally rarely in the population.

 

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