Literature DB >> 9011439

Case report: gastric carcinoma as a complication of dyskeratosis congenita in an adolescent boy.

K R Chatura1, S Nadar, S Pulimood, D Mathai, M M Mathan.   

Abstract

Dyskeratosis congenita (DC), or the Zinsser-Engman-Cole syndrome, is a rare X-linked heritable disorder, affecting primarily the ectodermal tissues, with hyperpigmentation of the skin, leukoplakia of the buccal and anal mucosa, and nail dystrophy (1, 2). Aplastic anemia (3) and a variety of neoplasms (4, 5) are some of the extraectodermal manifestation of this disorder, which although X-linked recessive, has also been described in a few females (6, 7). Mental retardation, diarrhea, and gastrointestinal bleeding have been considered to be less frequent features (8). We report an adolescent Indian male who presented with all the ectodermal manifestations, as well as mental retardation, bone marrow aplasia, and gastrointestinal hemorrhage secondary to adenocarcinoma of the stomach.

Entities:  

Mesh:

Year:  1996        PMID: 9011439     DOI: 10.1007/bf02100124

Source DB:  PubMed          Journal:  Dig Dis Sci        ISSN: 0163-2116            Impact factor:   3.199


  8 in total

1.  Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements.

Authors:  I Dokal; J Bungey; P Williamson; D Oscier; J Hows; L Luzzatto
Journal:  Blood       Date:  1992-12-15       Impact factor: 22.113

2.  DYSKERATOSIS CONGENITA. FIRST REPORT OF ITS OCCURRENCE IN A FEMALE AND A REVIEW OF THE LITERATURE.

Authors:  J M SORROW; J M HITCH
Journal:  Arch Dermatol       Date:  1963-09

3.  DYSKERATOSIS CONGENITA AND FAMILIAL PANCYTOPENIA.

Authors:  H G BRYAN; R K NIXON
Journal:  JAMA       Date:  1965-04-19       Impact factor: 56.272

4.  Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia.

Authors:  K Kawaguchi; H Sakamaki; Y Onozawa; M Koike
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1990

5.  Dyskeratosis congenita. Report of a large kindred.

Authors:  J M Connor; R H Teague
Journal:  Br J Dermatol       Date:  1981-09       Impact factor: 9.302

Review 6.  Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.

Authors:  C Sirinavin; A A Trowbridge
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

7.  Dyskeratosis congenita: two examples of this multisystem disorder.

Authors:  R Womer; J E Clark; P Wood; H Sabio; T E Kelly
Journal:  Pediatrics       Date:  1983-04       Impact factor: 7.124

8.  Gastrointestinal involvement in a woman with dyskeratosis congenita.

Authors:  K E Brown; T E Kelly; B M Myers
Journal:  Dig Dis Sci       Date:  1993-01       Impact factor: 3.199

  8 in total
  3 in total

Review 1.  Cancer in dyskeratosis congenita.

Authors:  Blanche P Alter; Neelam Giri; Sharon A Savage; Philip S Rosenberg
Journal:  Blood       Date:  2009-03-12       Impact factor: 22.113

2.  Identification of DKC1 gene mutation in an Indian patient.

Authors:  Parag M Tamhankar; Meina Zhao; Hirokazu Kanegane; Shubha R Phadke
Journal:  Indian J Pediatr       Date:  2010-01-20       Impact factor: 1.967

3.  A case of dyskeratosis congenita with primary amenorrhea and adenocarcinoma of stomach.

Authors:  Nandini Chakrabarti; Nilendu Sarma; Chandan Chattopadhyay; Atanu Roy Chowdhuri; Chanchal Das; Salil K Pal
Journal:  Indian J Dermatol       Date:  2011 Sep-Oct       Impact factor: 1.494

  3 in total

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